Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF FRRS1 0 genome.wustl.edu 37 1 100212942 100212942 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100212942 100212942 G A SNP FRRS1 ENST00000287474 human ensembl 74_37 -1 known missense c.241 p.R81C 0.708 pfam_Reeler_dom,pfscan_Reeler_dom pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 255 0 0 183 42 18.6667 RBP7 0 genome.wustl.edu 37 1 10067724 10067724 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 10067724 10067724 G A SNP RBP7 ENST00000294435 human ensembl 74_37 +1 known missense c.170 p.S57N 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP7 HGNC ENSG00000162444 99 0 0 52 15 22.3881 CDC14A 0 genome.wustl.edu 37 1 100964808 100964808 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100964808 100964808 G A SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.1745 p.R582H 0.997 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 161 0 0 107 35 24.6479 CDC14A 0 genome.wustl.edu 37 1 100964835 100964835 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100964835 100964835 C T SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.1772 p.P591L 0.968 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 153 0 0 122 36 22.7848 VCAM1 0 genome.wustl.edu 37 1 101194879 101194879 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 101194879 101194879 T A SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.1145 p.L382Q 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 307 0 0 218 56 20.438 SLC30A7 0 genome.wustl.edu 37 1 101387377 101387377 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 101387377 101387377 A G SNP SLC30A7 ENST00000357650 human ensembl 74_37 +1 novel missense c.822 p.I274M 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A7 HGNC ENSG00000162695 202 0 0 159 44 21.6749 KIF1B 0 genome.wustl.edu 37 1 10381867 10381867 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 10381867 10381867 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.2172 p.A724 0.033 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 131 0 0 103 27 20.7692 KIF1B 0 genome.wustl.edu 37 1 10384880 10384880 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 10384880 10384880 G T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.2464 p.D822Y 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 244 0 0 151 39 20.5263 AMY2A 0 genome.wustl.edu 37 1 104160673 104160673 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 104160673 104160673 G C SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.266 p.G89A 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 407 0 0 228 62 21.3793 PGD 0 genome.wustl.edu 37 1 10460487 10460487 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 10460487 10460487 A C SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.122 p.D41A 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 244 0 0 139 35 20.1149 NTNG1 0 genome.wustl.edu 37 1 107867505 107867505 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 107867505 107867505 G A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.848 p.R283H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 113 0 0 85 17 16.6667 TAF13 0 genome.wustl.edu 37 1 109607261 109607261 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 109607261 109607261 C T SNP TAF13 ENST00000338366 human ensembl 74_37 -1 known missense c.259 p.V87I 1.000 pfam_TFIID-18 pfam_TFIID-18,superfamily_Histone-fold - no_errors TAF13 HGNC ENSG00000197780 485 0 0 317 71 18.299 KIAA1324 0 genome.wustl.edu 37 1 109742806 109742806 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 109742806 109742806 T C SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known silent c.2754 p.C918 0.880 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 271 0 0 172 51 22.87 CELSR2 0 genome.wustl.edu 37 1 109793883 109793883 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 109793883 109793883 T A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1182 p.D394E 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 142 0 0 115 25 17.8571 GNAT2 0 genome.wustl.edu 37 1 110151277 110151277 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 110151277 110151277 T C SNP GNAT2 ENST00000351050 human ensembl 74_37 -1 known missense c.437 p.Y146C 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 191 0 0 144 36 20 EPS8L3 0 genome.wustl.edu 37 1 110301149 110301149 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 110301149 110301149 G A SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.601 p.H201Y 0.362 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 146 0 0 100 28 21.875 SLC6A17 0 genome.wustl.edu 37 1 110734660 110734660 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 110734660 110734660 C A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.931 p.L311M 0.997 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 110 0 0 87 12 12.1212 TARDBP 0 genome.wustl.edu 37 1 11078874 11078874 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 11078874 11078874 T C SNP TARDBP ENST00000240185 human ensembl 74_37 +1 known missense c.487 p.S163P 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 341 0 0 207 64 23.6162 EXOSC10 0 genome.wustl.edu 37 1 11131025 11131025 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 11131025 11131025 G A SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.2248 p.R750W 0.996 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 185 0 0 129 37 22.2892 EXOSC10 0 genome.wustl.edu 37 1 11142796 11142796 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 11142796 11142796 T C SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1229 p.Y410C 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 305 0 0 210 51 19.5402 LRIF1 0 genome.wustl.edu 37 1 111490689 111490689 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 111490689 111490689 C T SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known silent c.2202 p.P734 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 431 1 0.231481 318 70 18.0412 CHIA 0 genome.wustl.edu 37 1 111857963 111857963 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 111857963 111857963 A C SNP CHIA ENST00000343320 human ensembl 74_37 +1 known missense c.386 p.Q129P 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 277 0 0 202 33 14.0426 OVGP1 0 genome.wustl.edu 37 1 111959046 111959046 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 111959046 111959046 G C SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1055 p.A352G 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 152 0 0 126 32 20.2532 ADORA3 0 genome.wustl.edu 37 1 112031596 112031596 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 112031596 112031596 C T SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.508 p.A170T 0.836 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 127 0 0 104 26 20 KCND3 0 genome.wustl.edu 37 1 112525069 112525069 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 112525069 112525069 C T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.280 p.V94M 0.997 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 102 0 0 77 18 18.9474 MTOR 0 genome.wustl.edu 37 1 11288788 11288788 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 11288788 11288788 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known silent c.2967 p.F989 1.000 pfam_DUF3385_TOR,superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 81 0 0 75 14 15.7303 MOV10 0 genome.wustl.edu 37 1 113239362 113239362 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 113239362 113239362 C T SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known silent c.2092 p.L698 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 20 0 0 14 3 17.6471 PPM1J 0 genome.wustl.edu 37 1 113252813 113252813 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 113252813 113252813 G A SNP PPM1J ENST00000309276 human ensembl 74_37 -1 known missense c.1490 p.P497L 1.000 superfamily_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1J HGNC ENSG00000155367 136 0 0 109 27 19.8529 UBIAD1 0 genome.wustl.edu 37 1 11333988 11333988 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 11333988 11333988 T C SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known missense c.400 p.F134L 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 115 0 0 104 25 19.3798 LRIG2 0 genome.wustl.edu 37 1 113638869 113638869 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 113638869 113638869 C T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.973 p.R325C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 335 0 0 204 65 24.1636 DCLRE1B 0 genome.wustl.edu 37 1 114450657 114450657 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 114450657 114450657 C G SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.382 p.L128V 0.997 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 140 0 0 100 27 21.2598 DCLRE1B 0 genome.wustl.edu 37 1 114454019 114454019 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 114454019 114454019 C A SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.805 p.H269N 0.918 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 165 0 0 153 27 15 DENND2C 0 genome.wustl.edu 37 1 115168676 115168676 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 115168676 115168676 T C SNP DENND2C ENST00000493549 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors DENND2C HGNC ENSG00000175984 61 0 0 42 10 19.2308 PTCHD2 0 genome.wustl.edu 37 1 11586864 11586864 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 11586864 11586864 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2770 p.V924M 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 60 0 0 49 10 16.9492 IGSF3 0 genome.wustl.edu 37 1 117122169 117122169 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117122169 117122169 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.3239 p.P1080L 0.870 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 67 0 0 64 5 7.24638 IGSF3 0 genome.wustl.edu 37 1 117122256 117122256 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117122256 117122256 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.3152 p.T1051M 0.037 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 38 0 0 34 6 15 IGSF3 0 genome.wustl.edu 37 1 117156447 117156447 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117156447 117156447 A G SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.772 p.S258P 0.993 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 71 0 0 42 13 23.6364 CD2 0 genome.wustl.edu 37 1 117297441 117297441 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117297441 117297441 T C SNP CD2 ENST00000369478 human ensembl 74_37 +1 known missense c.250 p.Y84H 0.051 pfam_Ig_V-set,prints_CD2 pfam_Ig_C2-set,pfam_Ig_V-set,prints_CD2 - no_errors CD2 HGNC ENSG00000116824 86 0 0 72 18 20 CD101 0 genome.wustl.edu 37 1 117564494 117564494 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117564494 117564494 C T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.2317 p.R773W 0.998 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 139 0 0 116 32 21.6216 TTF2 0 genome.wustl.edu 37 1 117619362 117619362 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117619362 117619362 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1490 p.R497H 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 127 0 0 76 6 7.31707 TTF2 0 genome.wustl.edu 37 1 117633170 117633170 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117633170 117633170 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2513 p.R838H 0.477 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 153 0 0 94 22 18.9655 TRIM45 0 genome.wustl.edu 37 1 117658232 117658232 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117658232 117658232 T C SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.1432 p.T478A 0.675 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 245 0 0 161 35 17.8571 SPAG17 0 genome.wustl.edu 37 1 118530776 118530776 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 118530776 118530776 T C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.5573 p.K1858R 0.006 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 77 0 0 39 14 26.4151 WARS2 0 genome.wustl.edu 37 1 119575743 119575743 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 119575743 119575743 G A SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.874 p.R292C 0.380 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 140 1 0.70922 111 22 16.5414 REG4 0 genome.wustl.edu 37 1 120341118 120341118 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 120341118 120341118 A G SNP REG4 ENST00000256585 human ensembl 74_37 -1 known splice_site c.409+2 e4+2 0.952 - - - no_errors REG4 HGNC ENSG00000134193 316 0 0 261 35 11.8243 PLOD1 0 genome.wustl.edu 37 1 12034725 12034725 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12034725 12034725 T C SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.2185 p.F729L 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 47 0 0 36 6 14.2857 NOTCH2 0 genome.wustl.edu 37 1 120458677 120458677 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 120458677 120458677 T C SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.6668 p.Q2223R 1.000 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 115 0 0 82 19 18.8119 MFN2 0 genome.wustl.edu 37 1 12057394 12057394 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12057394 12057394 A G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.515 p.Q172R 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 93 0 0 68 8 10.5263 MFN2 0 genome.wustl.edu 37 1 12065963 12065963 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12065963 12065963 G A SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1691 p.R564Q 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 189 0 0 118 44 27.1605 TNFRSF1B 0 genome.wustl.edu 37 1 12248947 12248947 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12248947 12248947 C T SNP TNFRSF1B ENST00000376259 human ensembl 74_37 +1 known missense c.173 p.S58L 0.030 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 48 0 0 29 10 25.641 VPS13D 0 genome.wustl.edu 37 1 12336565 12336565 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12336565 12336565 T C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.2920 p.Y974H 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 274 1 0.363636 172 38 18.0952 GLTPD1 0 genome.wustl.edu 37 1 1262961 1262961 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1262961 1262961 C T SNP GLTPD1 ENST00000343938 human ensembl 74_37 +1 known missense c.463 p.R155C 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD1 HGNC ENSG00000224051 10 0 0 17 8 32 TAS1R3 0 genome.wustl.edu 37 1 1269515 1269515 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1269515 1269515 T G SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known missense c.2230 p.C744G 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 11 0 0 5 3 37.5 DVL1 0 genome.wustl.edu 37 1 1275137 1275137 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1275137 1275137 C T SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known missense c.965 p.R322Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 45 0 0 29 8 21.6216 PRAMEF1 0 genome.wustl.edu 37 1 12856081 12856081 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12856081 12856081 C A SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1361 p.P454H 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 392 0 0 248 28 10.1449 MXRA8 0 genome.wustl.edu 37 1 1289409 1289409 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1289409 1289409 C T SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known splice_site c.1222+1 e8+1 1.000 - - - no_errors MXRA8 HGNC ENSG00000162576 69 0 0 50 4 7.40741 PRAMEF7 0 genome.wustl.edu 37 1 12980059 12980059 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 12980059 12980059 T C SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known silent c.1251 p.S417 0.014 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 106 0 0 78 17 17.8947 PRAMEF16 0 genome.wustl.edu 37 1 13497743 13497743 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 13497743 13497743 T C SNP PRAMEF16 ENST00000376121 human ensembl 74_37 +1 known missense c.1040 p.V347A 0.000 NULL NULL - no_errors PRAMEF16 HGNC ENSG00000204488 221 0 0 196 30 13.2743 ATAD3C 0 genome.wustl.edu 37 1 1389866 1389866 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1389866 1389866 C T SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known missense c.364 p.R122W 0.998 NULL pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 14 0 0 4 9 69.2308 ENSG00000203849 0 genome.wustl.edu 37 1 142713813 142713813 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 142713813 142713813 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.457 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 153 0 0 102 27 20.9302 ATAD3B 0 genome.wustl.edu 37 1 1431181 1431181 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1431181 1431181 G T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.1931 p.G644V 0.042 NULL pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 62 0 0 41 3 6.81818 PDE4DIP 0 genome.wustl.edu 37 1 144931587 144931587 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 144931587 144931587 A G SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known missense c.122 p.V41A 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 111 0 0 97 16 14.1593 NBPF10 0 genome.wustl.edu 37 1 145324377 145324377 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 145324377 145324377 C A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.3572 p.A1191E 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 11 0 0 3 2 40 HFE2 0 genome.wustl.edu 37 1 145415465 145415465 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 145415465 145415465 G A SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known missense c.284 p.R95H 1.000 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 50 0 0 39 10 20.4082 ITGA10 0 genome.wustl.edu 37 1 145534184 145534184 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 145534184 145534184 T C SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known silent c.1689 p.G563 0.853 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 281 1 0.35461 179 53 22.8448 BCL9 0 genome.wustl.edu 37 1 147096052 147096052 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 147096052 147096052 A G SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.3573 p.A1191 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 97 0 0 91 6 6.18557 ACP6 0 genome.wustl.edu 37 1 147120182 147120182 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 147120182 147120182 T C SNP ACP6 ENST00000369238 human ensembl 74_37 -1 known missense c.1009 p.T337A 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP6 HGNC ENSG00000162836 155 0 0 129 26 16.7742 HIST2H2AC 0 genome.wustl.edu 37 1 149858893 149858893 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 149858893 149858893 C T SNP HIST2H2AC ENST00000331380 human ensembl 74_37 +1 known silent c.369 p.S123 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 126 0 0 94 18 16.0714 HIST2H2AB 0 genome.wustl.edu 37 1 149859204 149859204 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 149859204 149859204 A G SNP HIST2H2AB ENST00000331128 human ensembl 74_37 -1 known missense c.263 p.V88A 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 160 0 0 95 22 18.8034 MTMR11 0 genome.wustl.edu 37 1 149906991 149906991 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 149906991 149906991 C T SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.356 p.R119H 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 156 0 0 134 27 16.7702 CA14 0 genome.wustl.edu 37 1 150235560 150235560 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150235560 150235560 A G SNP CA14 ENST00000369111 human ensembl 74_37 +1 known missense c.682 p.T228A 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 165 1 0.60241 131 24 15.4839 RPRD2 0 genome.wustl.edu 37 1 150445370 150445370 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150445370 150445370 G A SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.3946 p.G1316R 0.990 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 38 0 0 28 5 15.1515 ECM1 0 genome.wustl.edu 37 1 150484269 150484269 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150484269 150484269 T C SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.1126 p.C376R 1.000 pfam_ECM1,superfamily_Serum_albumin-like pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 59 0 0 45 6 11.7647 SETDB1 0 genome.wustl.edu 37 1 150931668 150931668 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150931668 150931668 A G SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.2345 p.N782S 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 112 0 0 92 6 6.12245 SETDB1 0 genome.wustl.edu 37 1 150933482 150933482 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150933482 150933482 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.2944 p.A982T 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 208 0 0 152 36 19.1489 BNIPL 0 genome.wustl.edu 37 1 151011305 151011305 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 151011305 151011305 G A SNP BNIPL ENST00000368931 human ensembl 74_37 +1 known missense c.236 p.G79D 0.973 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIPL HGNC ENSG00000163141 106 0 0 72 13 15.2941 SEMA6C 0 genome.wustl.edu 37 1 151109535 151109535 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 151109535 151109535 C T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.772 p.V258I 0.989 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 126 0 0 102 28 21.5385 ZNF687 0 genome.wustl.edu 37 1 151259923 151259923 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 151259923 151259923 G C SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.1156 p.V386L 0.968 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 109 0 0 87 15 14.7059 PSMB4 0 genome.wustl.edu 37 1 151372168 151372168 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 151372168 151372168 G A SNP PSMB4 ENST00000290541 human ensembl 74_37 +1 known silent c.105 p.A35 0.000 pirsf_Proteasome_endopept_cplx_B pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B - no_errors PSMB4 HGNC ENSG00000159377 195 0 0 120 39 24.5283 LINGO4 0 genome.wustl.edu 37 1 151774479 151774479 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 151774479 151774479 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known silent c.702 p.E234 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 99 0 0 96 21 17.9487 RPTN 0 genome.wustl.edu 37 1 152129190 152129190 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152129190 152129190 T C SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.385 p.R129G 0.267 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 549 0 0 382 90 19.0678 FLG 0 genome.wustl.edu 37 1 152278828 152278828 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152278828 152278828 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8534 p.E2845G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 1536 0 0 1151 106 8.43278 FLG 0 genome.wustl.edu 37 1 152282840 152282840 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152282840 152282840 A T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4522 p.S1508T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 697 0 0 477 130 21.4168 FLG2 0 genome.wustl.edu 37 1 152326143 152326143 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152326143 152326143 A G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.4119 p.A1373 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 319 0 0 253 76 23.1003 FLG2 0 genome.wustl.edu 37 1 152326301 152326301 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152326301 152326301 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.3961 p.T1321A 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 552 2 0.361011 396 75 15.9236 FLG2 0 genome.wustl.edu 37 1 152326625 152326625 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152326625 152326625 C A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.3637 p.G1213C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 332 2 0.598802 226 46 16.9118 LCE2C 0 genome.wustl.edu 37 1 152648551 152648551 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152648551 152648551 T C SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known silent c.60 p.C20 0.001 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 193 0 0 159 40 20.1005 NPR1 0 genome.wustl.edu 37 1 153659753 153659753 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 153659753 153659753 C A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known silent c.2013 p.R671 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 111 0 0 55 18 24.6575 DENND4B 0 genome.wustl.edu 37 1 153908639 153908639 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 153908639 153908639 A G SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.2465 p.L822P 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 14 0 0 10 5 33.3333 RAB13 0 genome.wustl.edu 37 1 153955025 153955025 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 153955025 153955025 T C SNP RAB13 ENST00000368575 human ensembl 74_37 -1 known missense c.466 p.M156V 0.042 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB13 HGNC ENSG00000143545 132 0 0 96 22 18.6441 C1orf43 0 genome.wustl.edu 37 1 154185068 154185068 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154185068 154185068 G A SNP C1orf43 ENST00000368521 human ensembl 74_37 -1 known missense c.373 p.R125C 0.043 pfam_NICE-3_prd pfam_NICE-3_prd - no_errors C1orf43 HGNC ENSG00000143612 115 1 0.862069 62 23 27.0588 HAX1 0 genome.wustl.edu 37 1 154246038 154246038 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154246038 154246038 G A SNP HAX1 ENST00000483970 human ensembl 74_37 +1 known missense c.280 p.D94N 1.000 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 128 1 0.775194 89 21 19.0909 HAX1 0 genome.wustl.edu 37 1 154246292 154246292 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154246292 154246292 G A SNP HAX1 ENST00000483970 human ensembl 74_37 +1 known missense c.383 p.R128Q 0.482 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 239 0 0 150 47 23.8579 SHE 0 genome.wustl.edu 37 1 154458516 154458516 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154458516 154458516 G A SNP SHE ENST00000304760 human ensembl 74_37 -1 known missense c.1204 p.R402C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 112 0 0 97 25 20.4918 UBE2Q1 0 genome.wustl.edu 37 1 154524643 154524643 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154524643 154524643 C T SNP UBE2Q1 ENST00000292211 human ensembl 74_37 -1 known missense c.892 p.A298T 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 168 0 0 116 28 19.4444 UBE2Q1 0 genome.wustl.edu 37 1 154525264 154525264 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154525264 154525264 G A SNP UBE2Q1 ENST00000292211 human ensembl 74_37 -1 known silent c.762 p.D254 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 109 0 0 64 15 18.9873 ADAR 0 genome.wustl.edu 37 1 154569432 154569432 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154569432 154569432 A T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.2248 p.S750T 0.005 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 143 0 0 113 15 11.7188 ADAR 0 genome.wustl.edu 37 1 154600361 154600361 + Silent SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154600361 154600361 G C SNP ADAR ENST00000292205 human ensembl 74_37 -1 known silent c.114 p.V38 0.000 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 21 0 0 18 8 30.7692 PYGO2 0 genome.wustl.edu 37 1 154931981 154931981 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154931981 154931981 T C SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known silent c.495 p.Q165 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 99 0 0 66 18 21.4286 FLAD1 0 genome.wustl.edu 37 1 154960959 154960959 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 154960959 154960959 G A SNP FLAD1 ENST00000405236 human ensembl 74_37 +1 known missense c.454 p.V152I 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 108 0 0 70 8 10.2564 THBS3 0 genome.wustl.edu 37 1 155170773 155170773 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 155170773 155170773 T C SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.1463 p.N488S 1.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 410 0 0 269 59 17.9878 HCN3 0 genome.wustl.edu 37 1 155255658 155255658 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 155255658 155255658 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known silent c.1380 p.S460 0.999 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 184 0 0 123 46 27.2189 HCN3 0 genome.wustl.edu 37 1 155258286 155258286 + RNA SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 155258286 155258286 G T SNP HCN3 ENST00000496230 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors HCN3 HGNC ENSG00000143630 68 0 0 49 15 23.4375 RUSC1 0 genome.wustl.edu 37 1 155292385 155292385 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 155292385 155292385 A G SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.821 p.D274G 0.015 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 302 0 0 190 47 19.8312 RUSC1 0 genome.wustl.edu 37 1 155300452 155300452 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 155300452 155300452 T C SNP RUSC1 ENST00000462780 human ensembl 74_37 +1 known rna NULL NULL 0.142 - - - no_errors RUSC1 HGNC ENSG00000160753 20 0 0 13 6 31.5789 LMNA 0 genome.wustl.edu 37 1 156108471 156108471 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156108471 156108471 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1891 p.G631S 1.000 NULL pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 27 0 0 26 17 39.5349 SLC25A44 0 genome.wustl.edu 37 1 156170077 156170077 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156170077 156170077 G A SNP SLC25A44 ENST00000359511 human ensembl 74_37 +1 known missense c.439 p.G147S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC ENSG00000160785 123 0 0 79 26 24.7619 PAQR6 0 genome.wustl.edu 37 1 156214025 156214025 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156214025 156214025 T C SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known missense c.683 p.Y228C 0.995 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 44 0 0 34 17 33.3333 RHBG 0 genome.wustl.edu 37 1 156351209 156351209 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156351209 156351209 C T SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.745 p.R249W 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 87 0 0 51 17 25 MEF2D 0 genome.wustl.edu 37 1 156452281 156452281 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156452281 156452281 T C SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known missense c.206 p.Y69C 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 181 0 0 124 34 21.519 IQGAP3 0 genome.wustl.edu 37 1 156499967 156499967 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156499967 156499967 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.4334 p.R1445H 0.971 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 19 0 0 11 5 31.25 IQGAP3 0 genome.wustl.edu 37 1 156499976 156499976 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156499976 156499976 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.4325 p.R1442Q 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 24 0 0 8 7 46.6667 IQGAP3 0 genome.wustl.edu 37 1 156517928 156517928 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156517928 156517928 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.2241 p.R747 0.879 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 42 0 0 24 6 20 IQGAP3 0 genome.wustl.edu 37 1 156532379 156532379 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156532379 156532379 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.877 p.V293I 0.997 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 173 0 0 126 43 25.4438 ARHGEF11 0 genome.wustl.edu 37 1 156955924 156955924 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156955924 156955924 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.74 p.R25H 1.000 superfamily_PDZ pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 164 0 0 88 39 30.7087 CDK11B 0 genome.wustl.edu 37 1 1575796 1575796 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1575796 1575796 C T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1102 p.D368N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 68 0 0 40 5 11.1111 CELA2B 0 genome.wustl.edu 37 1 15817807 15817807 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 15817807 15817807 A G SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known silent c.810 p.*270 0.986 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 180 0 0 131 27 17.0886 CD1C 0 genome.wustl.edu 37 1 158262398 158262398 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 158262398 158262398 C A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.623 p.A208D 0.784 pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 106 0 0 85 11 11.4583 CD1C 0 genome.wustl.edu 37 1 158263003 158263003 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 158263003 158263003 A G SNP CD1C ENST00000368170 human ensembl 74_37 +1 known silent c.891 p.G297 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 438 0 0 309 66 17.6 OR6K2 0 genome.wustl.edu 37 1 158670434 158670434 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 158670434 158670434 G T SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known missense c.9 p.S3R 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 118 0 0 76 27 26.2136 OR6K3 0 genome.wustl.edu 37 1 158687161 158687161 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 158687161 158687161 T A SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.793 p.I265L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 117 0 0 118 31 20.8054 CADM3 0 genome.wustl.edu 37 1 159163707 159163707 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 159163707 159163707 G A SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.670 p.V224I 0.999 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 92 0 0 55 14 20.2899 OR10J3 0 genome.wustl.edu 37 1 159284344 159284344 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 159284344 159284344 A G SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.106 p.Y36H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 297 0 0 218 48 18.0451 FCRL6 0 genome.wustl.edu 37 1 159780002 159780002 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 159780002 159780002 A C SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.1005 p.K335N 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 163 1 0.609756 116 18 13.4328 VSIG8 0 genome.wustl.edu 37 1 159827580 159827580 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 159827580 159827580 A T SNP VSIG8 ENST00000368100 human ensembl 74_37 -1 known missense c.607 p.S203T 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG8 HGNC ENSG00000243284 71 0 0 60 12 16.6667 IGSF8 0 genome.wustl.edu 37 1 160062824 160062824 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160062824 160062824 G A SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known missense c.1202 p.A401V 0.996 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 19 0 0 12 4 25 IGSF8 0 genome.wustl.edu 37 1 160063696 160063696 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160063696 160063696 C A SNP IGSF8 ENST00000314485 human ensembl 74_37 -1 known missense c.708 p.E236D 0.999 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF8 HGNC ENSG00000162729 69 0 0 67 14 17.284 ATP1A4 0 genome.wustl.edu 37 1 160134082 160134082 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160134082 160134082 G T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.915 p.V305 0.016 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 283 0 0 218 52 19.2593 COPA 0 genome.wustl.edu 37 1 160267456 160267456 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160267456 160267456 T C SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2084 p.N695S 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 195 1 0.510204 164 35 17.5879 COPA 0 genome.wustl.edu 37 1 160268702 160268702 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160268702 160268702 A G SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1937 p.V646A 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 196 0 0 160 36 18.3673 COPA 0 genome.wustl.edu 37 1 160276963 160276963 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160276963 160276963 C T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.1292 p.R431Q 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 294 0 0 187 42 18.3406 NCSTN 0 genome.wustl.edu 37 1 160320035 160320035 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160320035 160320035 A G SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known missense c.577 p.K193E 1.000 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 235 0 0 163 36 18.0905 TMEM82 0 genome.wustl.edu 37 1 16069351 16069351 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 16069351 16069351 T A SNP TMEM82 ENST00000375782 human ensembl 74_37 +1 known missense c.110 p.V37D 1.000 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 52 0 0 35 15 30 ITLN2 0 genome.wustl.edu 37 1 160917764 160917764 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 160917764 160917764 G A SNP ITLN2 ENST00000368029 human ensembl 74_37 -1 known silent c.780 p.N260 0.069 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN2 HGNC ENSG00000158764 137 0 0 102 16 13.5593 KLHDC9 0 genome.wustl.edu 37 1 161070003 161070003 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 161070003 161070003 G A SNP KLHDC9 ENST00000368011 human ensembl 74_37 +1 known missense c.1039 p.D347N 1.000 superfamily_Gal_Oxase/kelch_b-propeller superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC9 HGNC ENSG00000162755 231 0 0 171 43 20.0935 PPOX 0 genome.wustl.edu 37 1 161137126 161137126 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 161137126 161137126 T C SNP PPOX ENST00000490768 human ensembl 74_37 +1 known rna NULL NULL 0.851 - - - no_errors PPOX HGNC ENSG00000143224 170 0 0 117 20 14.5985 SPEN 0 genome.wustl.edu 37 1 16257562 16257562 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 16257562 16257562 A G SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.4827 p.K1609 0.986 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 178 0 0 102 50 32.8947 ZBTB17 0 genome.wustl.edu 37 1 16271569 16271569 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 16271569 16271569 C T SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.790 p.E264K 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 11 0 0 9 6 40 NUF2 0 genome.wustl.edu 37 1 163315530 163315530 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 163315530 163315530 G T SNP NUF2 ENST00000271452 human ensembl 74_37 +1 known missense c.870 p.Q290H 0.130 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 199 0 0 122 22 15.2778 RXRG 0 genome.wustl.edu 37 1 165386317 165386317 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 165386317 165386317 G A SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.583 p.R195C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 123 0 0 91 21 18.75 ALDH9A1 0 genome.wustl.edu 37 1 165632366 165632366 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 165632366 165632366 T C SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known missense c.1478 p.N493S 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 118 0 0 66 24 26.6667 FBXO42 0 genome.wustl.edu 37 1 16577504 16577504 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 16577504 16577504 C T SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known silent c.1815 p.G605 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 174 0 0 143 40 21.8579 TADA1 0 genome.wustl.edu 37 1 166838708 166838708 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 166838708 166838708 C T SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known missense c.206 p.R69H 0.999 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 54 0 0 45 12 21.0526 ILDR2 0 genome.wustl.edu 37 1 166927241 166927241 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 166927241 166927241 G T SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known silent c.144 p.S48 0.985 smart_Ig_sub pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 268 1 0.371747 176 38 17.757 DUSP27 0 genome.wustl.edu 37 1 167095407 167095407 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 167095407 167095407 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.1039 p.E347K 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 18 0 0 9 4 30.7692 NBPF1 0 genome.wustl.edu 37 1 16895594 16895594 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 16895594 16895594 T C SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.2588 p.Q863R 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 2251 1 0.044405 1775 129 6.77521 SELL 0 genome.wustl.edu 37 1 169677585 169677585 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 169677585 169677585 T C SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.484 p.K162E 0.960 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 195 0 0 106 30 22.0588 SELE 0 genome.wustl.edu 37 1 169701051 169701051 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 169701051 169701051 C T SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.454 p.G152S 0.951 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 83 0 0 60 18 23.0769 C1orf112 0 genome.wustl.edu 37 1 169771846 169771846 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 169771846 169771846 A G SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known missense c.151 p.T51A 0.133 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 167 0 0 85 19 18.2692 C1orf112 0 genome.wustl.edu 37 1 169772333 169772333 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 169772333 169772333 T G SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known silent c.195 p.A65 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 101 0 0 85 15 15 PRRX1 0 genome.wustl.edu 37 1 170695482 170695482 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 170695482 170695482 T C SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.539 p.V180A 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 97 0 0 62 24 27.907 PRRX1 0 genome.wustl.edu 37 1 170695497 170695497 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 170695497 170695497 C T SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known missense c.554 p.P185L 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 99 0 0 83 9 9.78261 PRRX1 0 genome.wustl.edu 37 1 170705388 170705388 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 170705388 170705388 C T SNP PRRX1 ENST00000476867 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRRX1 HGNC ENSG00000116132 46 0 0 32 9 21.9512 SUCO 0 genome.wustl.edu 37 1 172558159 172558159 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 172558159 172558159 A G SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.2374 p.R792G 0.736 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 109 0 0 96 23 19.3277 SLC9C2 0 genome.wustl.edu 37 1 173499145 173499145 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 173499145 173499145 G A SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2212 p.R738C 0.500 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 195 0 0 136 45 24.8619 KLHL20 0 genome.wustl.edu 37 1 173726131 173726131 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 173726131 173726131 T C SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known silent c.984 p.S328 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 245 0 0 179 36 16.7442 RABGAP1L 0 genome.wustl.edu 37 1 174927162 174927162 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 174927162 174927162 A G SNP RABGAP1L ENST00000367686 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors RABGAP1L HGNC ENSG00000152061 29 0 0 18 4 18.1818 CACYBP 0 genome.wustl.edu 37 1 174975919 174975919 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 174975919 174975919 A G SNP CACYBP ENST00000367679 human ensembl 74_37 +1 known missense c.274 p.T92A 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS - no_errors CACYBP HGNC ENSG00000116161 126 0 0 88 20 18.5185 MRPS14 0 genome.wustl.edu 37 1 174987603 174987603 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 174987603 174987603 A G SNP MRPS14 ENST00000476371 human ensembl 74_37 -1 known missense c.155 p.L52P 0.996 NULL pfam_Ribosomal_S14 - no_errors MRPS14 HGNC ENSG00000120333 320 0 0 215 54 20.0743 TNN 0 genome.wustl.edu 37 1 175087805 175087805 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 175087805 175087805 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2495 p.T832M 0.984 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 149 0 0 83 27 24.5455 TNN 0 genome.wustl.edu 37 1 175113675 175113675 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 175113675 175113675 A G SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.3748 p.K1250E 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 76 0 0 63 11 14.8649 TNR 0 genome.wustl.edu 37 1 175299227 175299227 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 175299227 175299227 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3776 p.S1259N 0.052 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 121 0 0 86 21 19.6262 RFWD2 0 genome.wustl.edu 37 1 176085813 176085813 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 176085813 176085813 T C SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known missense c.973 p.I325V 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 266 0 0 205 55 21.1538 PAPPA2 0 genome.wustl.edu 37 1 176563808 176563808 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 176563808 176563808 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.1068 p.H356 0.107 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 90 0 0 78 19 19.5876 BRINP2 0 genome.wustl.edu 37 1 177249772 177249772 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 177249772 177249772 C G SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1460 p.A487G 0.972 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 52 0 0 60 10 14.2857 RCC2 0 genome.wustl.edu 37 1 17749323 17749323 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 17749323 17749323 T C SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.533 p.E178G 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 115 0 0 74 18 19.5652 AXDND1 0 genome.wustl.edu 37 1 179523744 179523744 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 179523744 179523744 T C SNP AXDND1 ENST00000484455 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AXDND1 HGNC ENSG00000162779 67 0 0 67 15 18.2927 ACTL8 0 genome.wustl.edu 37 1 18149614 18149614 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 18149614 18149614 G A SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known silent c.111 p.P37 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 144 0 0 84 24 22.2222 CACNA1E 0 genome.wustl.edu 37 1 181727985 181727985 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 181727985 181727985 T C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4586 p.V1529A 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 159 0 0 121 31 20.3947 RGS8 0 genome.wustl.edu 37 1 182641997 182641997 + RNA SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 182641997 182641997 A T SNP RGS8 ENST00000491420 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RGS8 HGNC ENSG00000135824 183 0 0 115 25 17.8571 DHX9 0 genome.wustl.edu 37 1 182836115 182836115 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 182836115 182836115 A G SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known silent c.1494 p.L498 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 302 0 0 217 55 20.2206 ARPC5 0 genome.wustl.edu 37 1 183596507 183596507 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 183596507 183596507 A G SNP ARPC5 ENST00000462965 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ARPC5 HGNC ENSG00000162704 29 0 0 34 11 24.4444 RGL1 0 genome.wustl.edu 37 1 183881241 183881241 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 183881241 183881241 A G SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1693 p.T565A 0.029 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 102 0 0 56 21 27.2727 RGL1 0 genome.wustl.edu 37 1 183885723 183885723 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 183885723 183885723 C T SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1997 p.T666M 0.990 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 168 0 0 150 31 17.1271 SWT1 0 genome.wustl.edu 37 1 185137497 185137497 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 185137497 185137497 A G SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.191 p.Y64C 0.002 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 56 0 0 43 11 20.3704 HMCN1 0 genome.wustl.edu 37 1 185962440 185962440 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 185962440 185962440 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.3504 p.H1168 0.968 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 129 0 0 84 22 20.7547 PRG4 0 genome.wustl.edu 37 1 186281960 186281960 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 186281960 186281960 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.4051 p.T1351A 0.995 superfamily_Hemopexin-like_dom pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 172 0 0 125 26 17.2185 TPR 0 genome.wustl.edu 37 1 186313637 186313637 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 186313637 186313637 A G SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.3287 p.L1096P 0.917 pfam_TPR_MLP1_2 pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 332 1 0.3003 247 54 17.9402 BRINP3 0 genome.wustl.edu 37 1 190067644 190067644 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 190067644 190067644 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1805 p.D602G 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 484 0 0 329 81 19.7561 PAX7 0 genome.wustl.edu 37 1 19029776 19029776 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 19029776 19029776 G T SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.1141 p.G381C 1.000 pfam_Pax7 pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 57 0 0 45 10 18.1818 ALDH4A1 0 genome.wustl.edu 37 1 19201970 19201970 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 19201970 19201970 A G SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.1366 p.Y456H 0.967 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 98 0 0 88 10 10.2041 RGS1 0 genome.wustl.edu 37 1 192547467 192547467 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 192547467 192547467 A G SNP RGS1 ENST00000367459 human ensembl 74_37 +1 known silent c.396 p.K132 0.916 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS1 HGNC ENSG00000090104 320 0 0 218 57 20.7273 B3GALT2 0 genome.wustl.edu 37 1 193149827 193149827 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 193149827 193149827 T C SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.866 p.N289S 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 145 0 0 119 21 15 UBR4 0 genome.wustl.edu 37 1 19449347 19449347 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 19449347 19449347 A T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.9796 p.Y3266N 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 176 0 0 119 20 14.3885 CFHR2 0 genome.wustl.edu 37 1 196928105 196928105 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 196928105 196928105 A G SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.708 p.I236M 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 135 0 0 93 26 21.8487 F13B 0 genome.wustl.edu 37 1 197026524 197026524 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 197026524 197026524 G A SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.877 p.R293C 0.106 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 259 1 0.384615 178 35 16.4319 ASPM 0 genome.wustl.edu 37 1 197097731 197097731 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 197097731 197097731 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.2825 p.R942H 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 108 0 0 70 13 15.6627 ZBTB41 0 genome.wustl.edu 37 1 197157461 197157461 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 197157461 197157461 G A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.1507 p.R503W 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 174 0 0 106 25 19.084 ZBTB41 0 genome.wustl.edu 37 1 197168674 197168674 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 197168674 197168674 C T SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known silent c.930 p.E310 0.961 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 319 0 0 214 67 23.8434 ZBTB41 0 genome.wustl.edu 37 1 197169174 197169174 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 197169174 197169174 A G SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.430 p.Y144H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 83 0 0 91 22 19.469 PTPRC 0 genome.wustl.edu 37 1 198668766 198668766 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 198668766 198668766 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.372 p.T124 0.355 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 201 0 0 135 29 17.6829 PTPRC 0 genome.wustl.edu 37 1 198668804 198668804 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 198668804 198668804 A G SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.410 p.N137S 0.002 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 291 1 0.342466 191 41 17.6724 PTPRC 0 genome.wustl.edu 37 1 198687384 198687384 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 198687384 198687384 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1612 p.D538N 0.000 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 81 0 0 61 15 19.7368 CAMSAP2 0 genome.wustl.edu 37 1 200818150 200818150 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 200818150 200818150 G A SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known silent c.2286 p.V762 0.985 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 132 0 0 118 34 22.3684 CACNA1S 0 genome.wustl.edu 37 1 201052326 201052326 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 201052326 201052326 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.1357 p.H453Y 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 57 0 0 47 18 27.6923 CACNA1S 0 genome.wustl.edu 37 1 201058550 201058550 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 201058550 201058550 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.736 p.A246T 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 40 0 0 30 6 16.6667 NAV1 0 genome.wustl.edu 37 1 201617978 201617978 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 201617978 201617978 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.182 p.A61V 0.062 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 23 0 0 14 6 30 NAV1 0 genome.wustl.edu 37 1 201751603 201751603 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 201751603 201751603 G A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.1963 p.A655T 0.001 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 143 1 0.694444 118 36 23.3766 ELF3 0 genome.wustl.edu 37 1 201983146 201983146 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 201983146 201983146 C T SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.995 p.A332V 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 31 0 0 18 5 21.7391 PTPN7 0 genome.wustl.edu 37 1 202123315 202123315 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 202123315 202123315 T G SNP PTPN7 ENST00000309017 human ensembl 74_37 -1 known missense c.920 p.E307A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 80 0 0 69 15 17.8571 KDM5B 0 genome.wustl.edu 37 1 202700079 202700079 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 202700079 202700079 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known silent c.4242 p.Q1414 0.044 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 94 0 0 76 22 22.449 KDM5B 0 genome.wustl.edu 37 1 202702811 202702811 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 202702811 202702811 A G SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known silent c.3735 p.I1245 0.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 86 0 0 74 25 25.2525 PPFIA4 0 genome.wustl.edu 37 1 203012612 203012612 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 203012612 203012612 C T SNP PPFIA4 ENST00000367240 human ensembl 74_37 +1 novel missense c.322 p.R108W 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 14 0 0 14 4 22.2222 PPFIA4 0 genome.wustl.edu 37 1 203024745 203024745 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 203024745 203024745 A G SNP PPFIA4 ENST00000414050 human ensembl 74_37 +1 known missense c.1136 p.K379R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 53 0 0 48 13 21.3115 FMOD 0 genome.wustl.edu 37 1 203317279 203317279 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 203317279 203317279 A G SNP FMOD ENST00000354955 human ensembl 74_37 -1 known silent c.120 p.D40 0.662 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 118 1 0.840336 60 12 16.6667 PLEKHA6 0 genome.wustl.edu 37 1 204236645 204236645 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 204236645 204236645 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.238 p.R80C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 101 0 0 70 13 15.6627 PIK3C2B 0 genome.wustl.edu 37 1 204418333 204418333 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 204418333 204418333 G A SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.2326 p.P776S 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 23 0 0 22 5 18.5185 NFASC 0 genome.wustl.edu 37 1 204937448 204937448 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 204937448 204937448 C T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.778 p.R260C 0.801 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 119 0 0 88 21 19.2661 NFASC 0 genome.wustl.edu 37 1 204945914 204945914 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 204945914 204945914 A G SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1822 p.T608A 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 138 0 0 81 17 17.3469 TMEM81 0 genome.wustl.edu 37 1 205052683 205052683 + Nonstop_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 205052683 205052683 A G SNP TMEM81 ENST00000367167 human ensembl 74_37 -1 known nonstop c.766 p.*256R 0.000 NULL pfscan_Ig-like_dom - no_errors TMEM81 HGNC ENSG00000174529 110 0 0 79 23 22.549 RBBP5 0 genome.wustl.edu 37 1 205074295 205074295 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 205074295 205074295 A G SNP RBBP5 ENST00000264515 human ensembl 74_37 -1 known missense c.220 p.W74R 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP5 HGNC ENSG00000117222 145 0 0 100 28 21.875 KLHDC8A 0 genome.wustl.edu 37 1 205312636 205312636 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 205312636 205312636 C T SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known missense c.97 p.V33I 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 30 0 0 38 8 17.3913 RAB7L1 0 genome.wustl.edu 37 1 205739514 205739514 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 205739514 205739514 A G SNP RAB7L1 ENST00000235932 human ensembl 74_37 -1 known missense c.568 p.Y190H 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7L1 HGNC ENSG00000117280 122 0 0 71 21 22.8261 CR2 0 genome.wustl.edu 37 1 207639972 207639972 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 207639972 207639972 A G SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.160 p.T54A 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 296 0 0 225 48 17.5824 CR1 0 genome.wustl.edu 37 1 207679344 207679344 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 207679344 207679344 T C SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.217 p.C73R 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 240 0 0 184 38 17.1171 CR1L 0 genome.wustl.edu 37 1 207867785 207867785 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 207867785 207867785 C T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.551 p.T184I 0.913 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 243 0 0 164 53 24.424 CD46 0 genome.wustl.edu 37 1 207940424 207940424 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 207940424 207940424 A G SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.740 p.Y247C 0.000 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 144 0 0 107 27 20.1493 PLXNA2 0 genome.wustl.edu 37 1 208206749 208206749 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 208206749 208206749 T C SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.4970 p.N1657S 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 84 0 0 77 14 15.3846 IRF6 0 genome.wustl.edu 37 1 209964012 209964012 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 209964012 209964012 G A SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known silent c.888 p.D296 0.416 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 149 1 0.666667 108 27 20 IRF6 0 genome.wustl.edu 37 1 209964020 209964020 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 209964020 209964020 G A SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known silent c.880 p.L294 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 150 0 0 118 31 20.8054 KIF17 0 genome.wustl.edu 37 1 21009336 21009336 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 21009336 21009336 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.2273 p.A758V 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 103 0 0 77 16 17.2043 HP1BP3 0 genome.wustl.edu 37 1 21083671 21083671 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 21083671 21083671 C A SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known silent c.969 p.S323 0.308 pfam_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 156 0 0 100 19 15.9664 EIF4G3 0 genome.wustl.edu 37 1 21205843 21205843 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 21205843 21205843 G A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known silent c.2445 p.Y815 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 311 2 0.638978 243 46 15.917 INTS7 0 genome.wustl.edu 37 1 212142038 212142038 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 212142038 212142038 T C SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known silent c.1680 p.T560 0.996 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 80 0 0 81 21 20.5882 INTS7 0 genome.wustl.edu 37 1 212161324 212161324 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 212161324 212161324 G A SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known nonsense c.754 p.Q252* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 74 0 0 61 10 14.0845 C1orf86 0 genome.wustl.edu 37 1 2125140 2125140 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 2125140 2125140 C T SNP C1orf86 ENST00000378543 human ensembl 74_37 -1 putative missense c.272 p.R91H 0.005 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 43 0 0 33 10 23.2558 KCNK2 0 genome.wustl.edu 37 1 215345490 215345490 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 215345490 215345490 A G SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.787 p.T263A 1.000 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 287 0 0 197 42 17.5732 USH2A 0 genome.wustl.edu 37 1 215802205 215802205 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 215802205 215802205 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.15542 p.L5181S 0.013 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 147 0 0 121 34 21.9355 USH2A 0 genome.wustl.edu 37 1 215953368 215953368 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 215953368 215953368 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.10756 p.T3586A 0.858 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 102 1 0.970874 82 15 15.4639 USH2A 0 genome.wustl.edu 37 1 216405425 216405425 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 216405425 216405425 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2863 p.T955A 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 186 0 0 138 27 16.3636 USH2A 0 genome.wustl.edu 37 1 216497021 216497021 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 216497021 216497021 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.1345 p.R449C 0.885 smart_Laminin_N,pfscan_Laminin_N pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 237 0 0 143 39 21.4286 ESRRG 0 genome.wustl.edu 37 1 216850574 216850574 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 216850574 216850574 T C SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.316 p.S106G 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 288 0 0 205 62 23.221 GPATCH2 0 genome.wustl.edu 37 1 217783709 217783709 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 217783709 217783709 A G SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known missense c.1052 p.M351T 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 233 0 0 196 22 10.0917 TGFB2 0 genome.wustl.edu 37 1 218614599 218614599 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 218614599 218614599 C T SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known silent c.1224 p.C408 0.441 pirsf_TGF-beta,pfam_TGF-b_C,smart_TGF-b_C pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 219 1 0.454545 176 50 22.1239 RAP1GAP 0 genome.wustl.edu 37 1 21938061 21938061 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 21938061 21938061 G T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.919 p.L307M 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 74 0 0 44 13 22.807 EPRS 0 genome.wustl.edu 37 1 220170682 220170682 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 220170682 220170682 G T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known silent c.2184 p.T728 0.000 NULL pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 153 0 0 87 26 23.0088 MARK1 0 genome.wustl.edu 37 1 220826557 220826557 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 220826557 220826557 A G SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known silent c.1851 p.E617 0.849 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 181 0 0 118 33 21.8543 HSPG2 0 genome.wustl.edu 37 1 22169859 22169859 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 22169859 22169859 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.8689 p.G2897R 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 49 0 0 34 8 19.0476 HSPG2 0 genome.wustl.edu 37 1 22176959 22176959 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 22176959 22176959 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.7191 p.A2397 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 15 0 0 10 8 44.4444 HSPG2 0 genome.wustl.edu 37 1 22179505 22179505 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 22179505 22179505 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.6498 p.G2166 0.986 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 79 0 0 53 14 20.8955 TLR5 0 genome.wustl.edu 37 1 223285544 223285544 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 223285544 223285544 G T SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.830 p.P277H 1.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 180 0 0 116 30 20.5479 C1orf65 0 genome.wustl.edu 37 1 223567614 223567614 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 223567614 223567614 G A SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.797 p.R266H 0.004 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 45 0 0 31 7 18.4211 CNIH3 0 genome.wustl.edu 37 1 224804920 224804920 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 224804920 224804920 T C SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known missense c.44 p.V15A 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 530 1 0.188324 400 73 15.4334 CNIH3 0 genome.wustl.edu 37 1 224868721 224868721 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 224868721 224868721 T C SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known missense c.143 p.V48A 0.967 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 144 0 0 88 26 22.807 CNIH3 0 genome.wustl.edu 37 1 224922301 224922301 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 224922301 224922301 C A SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known silent c.348 p.A116 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 127 0 0 101 24 19.2 DNAH14 0 genome.wustl.edu 37 1 225142738 225142738 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 225142738 225142738 A T SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.155 p.E52V 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 261 0 0 221 53 19.3431 PARP1 0 genome.wustl.edu 37 1 226552822 226552822 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 226552822 226552822 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.2539 p.R847C 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 105 0 0 73 21 22.3404 CDC42BPA 0 genome.wustl.edu 37 1 227216861 227216861 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 227216861 227216861 C T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.3824 p.R1275H 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 99 0 0 74 12 13.9535 CDC42BPA 0 genome.wustl.edu 37 1 227335223 227335223 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 227335223 227335223 A T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.731 p.I244N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 126 0 0 74 22 22.9167 ZNF678 0 genome.wustl.edu 37 1 227842264 227842264 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 227842264 227842264 A G SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.478 p.N160D 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 140 0 0 102 25 19.685 JMJD4 0 genome.wustl.edu 37 1 227921375 227921375 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 227921375 227921375 A G SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known missense c.700 p.F234L 0.984 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 39 0 0 52 9 14.7541 GUK1 0 genome.wustl.edu 37 1 228333221 228333221 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228333221 228333221 G C SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known missense c.8 p.G3A 1.000 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 29 0 0 18 4 18.1818 GJC2 0 genome.wustl.edu 37 1 228346175 228346175 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228346175 228346175 T C SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known missense c.716 p.V239A 0.998 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 47 0 0 30 7 18.9189 IBA57 0 genome.wustl.edu 37 1 228363092 228363092 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228363092 228363092 G A SNP IBA57 ENST00000366711 human ensembl 74_37 +1 known missense c.949 p.V317M 0.049 pfam_GCV_T_C pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 106 0 0 80 20 20 OBSCN 0 genome.wustl.edu 37 1 228433238 228433238 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228433238 228433238 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.3606 p.D1202 0.103 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 97 0 0 76 21 21.6495 OBSCN 0 genome.wustl.edu 37 1 228437898 228437898 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228437898 228437898 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.4266 p.C1422 0.936 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 115 0 0 88 16 15.3846 OBSCN 0 genome.wustl.edu 37 1 228437904 228437904 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228437904 228437904 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.4272 p.A1424 0.969 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 123 0 0 95 20 17.3913 OBSCN 0 genome.wustl.edu 37 1 228456347 228456347 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228456347 228456347 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4978 p.Y1660H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 55 0 0 34 10 22.7273 OBSCN 0 genome.wustl.edu 37 1 228509588 228509588 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 228509588 228509588 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15046 p.R5016W 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 65 0 0 56 11 16.4179 EPHA8 0 genome.wustl.edu 37 1 22902826 22902826 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 22902826 22902826 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known silent c.276 p.D92 0.420 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 147 0 0 84 21 20 EPHA8 0 genome.wustl.edu 37 1 22927263 22927263 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 22927263 22927263 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2498 p.A833V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 125 0 0 77 15 16.3043 TTC13 0 genome.wustl.edu 37 1 231064815 231064815 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 231064815 231064815 T C SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1325 p.H442R 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 181 1 0.549451 132 30 18.5185 SPRTN 0 genome.wustl.edu 37 1 231487299 231487299 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 231487299 231487299 T G SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known missense c.700 p.L234V 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 124 0 0 97 24 19.8347 TSNAX 0 genome.wustl.edu 37 1 231673007 231673007 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 231673007 231673007 T C SNP TSNAX ENST00000366639 human ensembl 74_37 +1 known missense c.170 p.V57A 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSNAX HGNC ENSG00000116918 152 0 0 99 30 23.2558 SIPA1L2 0 genome.wustl.edu 37 1 232650649 232650649 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 232650649 232650649 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.437 p.V146A 0.292 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 306 0 0 203 49 19.4444 PCNXL2 0 genome.wustl.edu 37 1 233394715 233394715 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 233394715 233394715 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.893 p.R298Q 0.001 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 159 0 0 135 15 10 PEX10 0 genome.wustl.edu 37 1 2337210 2337210 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 2337210 2337210 G A SNP PEX10 ENST00000288774 human ensembl 74_37 -1 known missense c.1036 p.R346C 1.000 NULL pfam_Pex_N,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX10 HGNC ENSG00000157911 11 0 0 9 4 30.7692 TARBP1 0 genome.wustl.edu 37 1 234563331 234563331 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 234563331 234563331 C T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.3242 p.R1081H 1.000 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 70 0 0 49 14 22.2222 TARBP1 0 genome.wustl.edu 37 1 234565023 234565023 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 234565023 234565023 C T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.2919 p.A973 0.160 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 161 0 0 112 28 20 HTR1D 0 genome.wustl.edu 37 1 23520184 23520184 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 23520184 23520184 G A SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.529 p.R177W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 70 0 0 56 24 30 RBM34 0 genome.wustl.edu 37 1 235324296 235324296 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 235324296 235324296 T C SNP RBM34 ENST00000408888 human ensembl 74_37 -1 known missense c.140 p.H47R 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 61 0 0 36 33 47.8261 B3GALNT2 0 genome.wustl.edu 37 1 235658060 235658060 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 235658060 235658060 T C SNP B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known missense c.191 p.H64R 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 227 0 0 146 38 20.6522 LYST 0 genome.wustl.edu 37 1 235827885 235827885 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 235827885 235827885 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.11075 p.N3692S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 103 1 0.961538 65 20 23.5294 LYST 0 genome.wustl.edu 37 1 235922883 235922883 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 235922883 235922883 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.6270 p.N2090 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 122 0 0 98 22 18.3333 NID1 0 genome.wustl.edu 37 1 236148697 236148697 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 236148697 236148697 T C SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.3037 p.T1013A 0.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 125 0 0 93 28 23.1405 HNRNPR 0 genome.wustl.edu 37 1 23637458 23637458 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 23637458 23637458 T C SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known missense c.1400 p.Y467C 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 184 0 0 132 33 20 ACTN2 0 genome.wustl.edu 37 1 236914881 236914881 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 236914881 236914881 A G SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1768 p.N590D 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 107 0 0 82 23 21.9048 MTR 0 genome.wustl.edu 37 1 236995292 236995292 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 236995292 236995292 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.1102 p.Y368H 0.977 superfamily_S_MeTrfase,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 98 0 0 88 8 8.33333 MTR 0 genome.wustl.edu 37 1 237016301 237016301 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 237016301 237016301 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.1866 p.D622 0.921 superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 248 0 0 175 29 14.2157 RYR2 0 genome.wustl.edu 37 1 237838135 237838135 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 237838135 237838135 T A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.8813 p.I2938N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 62 0 0 47 7 12.963 CHRM3 0 genome.wustl.edu 37 1 240071898 240071898 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 240071898 240071898 T C SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known silent c.1147 p.L383 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 28 0 0 17 4 19.0476 FMN2 0 genome.wustl.edu 37 1 240286491 240286491 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 240286491 240286491 T C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1628 p.L543S 0.999 pfscan_DEP_dom pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 116 0 0 72 17 19.1011 TCEB3 0 genome.wustl.edu 37 1 24077589 24077589 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 24077589 24077589 A G SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known missense c.572 p.Y191C 0.951 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 219 0 0 151 49 24.5 RGS7 0 genome.wustl.edu 37 1 240966228 240966228 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 240966228 240966228 C T SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known silent c.1335 p.Q445 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 304 0 0 196 42 17.6471 PLD5 0 genome.wustl.edu 37 1 242511481 242511481 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 242511481 242511481 T A SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.253 p.I85F 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 229 0 0 158 36 18.5567 ZBTB18 0 genome.wustl.edu 37 1 244218042 244218042 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 244218042 244218042 T A SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.966 p.H322Q 0.995 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 90 0 0 84 13 13.4021 AHCTF1 0 genome.wustl.edu 37 1 247013668 247013668 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 247013668 247013668 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.5667 p.E1889 0.566 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 179 0 0 114 35 23.4899 AHCTF1 0 genome.wustl.edu 37 1 247051505 247051505 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 247051505 247051505 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.2326 p.V776I 0.956 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 132 0 0 84 16 16 ZNF695 0 genome.wustl.edu 37 1 247150946 247150946 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 247150946 247150946 T C SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.871 p.T291A 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 41 0 0 33 8 19.5122 NIPAL3 0 genome.wustl.edu 37 1 24776017 24776017 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 24776017 24776017 T C SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known silent c.441 p.G147 0.851 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 100 0 0 75 17 18.4783 OR11L1 0 genome.wustl.edu 37 1 248005113 248005113 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 248005113 248005113 A G SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.86 p.V29A 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 68 0 0 38 6 13.6364 OR2L2 0 genome.wustl.edu 37 1 248201952 248201952 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 248201952 248201952 C A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.383 p.P128H 0.941 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 321 0 0 258 59 18.612 OR2L13 0 genome.wustl.edu 37 1 248263216 248263216 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 248263216 248263216 T A SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.539 p.V180D 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 409 0 0 284 67 19.0883 OR2T2 0 genome.wustl.edu 37 1 248616758 248616758 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 248616758 248616758 G A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.660 p.T220 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 90 0 0 53 17 24.2857 OR2G6 0 genome.wustl.edu 37 1 248685072 248685072 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 248685072 248685072 A G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.125 p.N42S 0.657 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 211 0 0 159 39 19.697 OR2T10 0 genome.wustl.edu 37 1 248756250 248756250 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 248756250 248756250 A G SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known missense c.820 p.S274P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC ENSG00000184022 125 0 0 88 19 17.757 RHD 0 genome.wustl.edu 37 1 25611080 25611080 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 25611080 25611080 C T SNP RHD ENST00000328664 human ensembl 74_37 +1 known silent c.165 p.T55 0.002 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 134 0 0 84 9 9.67742 TMEM50A 0 genome.wustl.edu 37 1 25678158 25678158 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 25678158 25678158 A G SNP TMEM50A ENST00000374358 human ensembl 74_37 +1 known missense c.248 p.Y83C 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50A HGNC ENSG00000183726 127 0 0 95 21 18.1034 RHCE 0 genome.wustl.edu 37 1 25715467 25715467 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 25715467 25715467 C T SNP RHCE ENST00000294413 human ensembl 74_37 -1 known silent c.939 p.P313 0.985 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 100 0 0 61 17 21.7949 TMEM57 0 genome.wustl.edu 37 1 25775373 25775373 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 25775373 25775373 G A SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known nonsense c.297 p.W99* 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 203 0 0 111 35 23.9726 TMEM57 0 genome.wustl.edu 37 1 25812245 25812245 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 25812245 25812245 A G SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known silent c.1455 p.E485 1.000 pfam_Macoilin,superfamily_Prefoldin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 166 0 0 106 30 22.0588 SEPN1 0 genome.wustl.edu 37 1 26135246 26135246 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26135246 26135246 A G SNP SEPN1 ENST00000354177 human ensembl 74_37 +1 known missense c.611 p.N204S 1.000 NULL pfscan_EF_hand_dom - no_errors SEPN1 HGNC ENSG00000162430 108 0 0 62 16 20.5128 MTFR1L 0 genome.wustl.edu 37 1 26156176 26156176 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26156176 26156176 A G SNP MTFR1L ENST00000526894 human ensembl 74_37 +1 novel splice_site c.452-2 e5-2 1.000 - - - no_errors MTFR1L HGNC ENSG00000117640 274 1 0.363636 166 47 22.0657 AUNIP 0 genome.wustl.edu 37 1 26162053 26162053 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26162053 26162053 T C SNP AUNIP ENST00000538789 human ensembl 74_37 -1 known missense c.505 p.T169A 0.000 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 424 0 0 290 67 18.7675 STMN1 0 genome.wustl.edu 37 1 26228173 26228173 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26228173 26228173 A G SNP STMN1 ENST00000426559 human ensembl 74_37 -1 known missense c.187 p.S63P 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN1 HGNC ENSG00000117632 238 0 0 182 27 12.9187 CNKSR1 0 genome.wustl.edu 37 1 26511543 26511543 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26511543 26511543 C T SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known missense c.1195 p.R399C 1.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 13 0 0 9 2 18.1818 CATSPER4 0 genome.wustl.edu 37 1 26517331 26517331 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26517331 26517331 G A SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known silent c.213 p.A71 0.479 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 13 0 0 16 4 20 CEP85 0 genome.wustl.edu 37 1 26582109 26582109 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26582109 26582109 A G SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known missense c.656 p.Y219C 0.996 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 176 0 0 130 37 22.1557 LIN28A 0 genome.wustl.edu 37 1 26751895 26751895 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26751895 26751895 C T SNP LIN28A ENST00000254231 human ensembl 74_37 +1 known silent c.330 p.T110 0.045 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC ENSG00000131914 207 0 0 146 37 20.2186 C1orf172 0 genome.wustl.edu 37 1 27278358 27278358 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 27278358 27278358 A G SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known missense c.514 p.Y172H 0.942 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 71 0 0 46 7 13.2075 WDTC1 0 genome.wustl.edu 37 1 27609836 27609836 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 27609836 27609836 G A SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.187 p.A63T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 112 1 0.884956 66 21 24.1379 WASF2 0 genome.wustl.edu 37 1 27744873 27744873 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 27744873 27744873 G A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known nonsense c.316 p.Q106* 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 116 0 0 97 20 17.094 AHDC1 0 genome.wustl.edu 37 1 27875206 27875206 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 27875206 27875206 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.3421 p.V1141M 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 162 0 0 129 36 21.8182 THEMIS2 0 genome.wustl.edu 37 1 28212500 28212500 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 28212500 28212500 A G SNP THEMIS2 ENST00000492877 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors THEMIS2 HGNC ENSG00000130775 58 0 0 41 9 18 RCC1 0 genome.wustl.edu 37 1 28862498 28862498 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 28862498 28862498 C T SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known silent c.870 p.G290 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 122 0 0 98 17 14.7826 GMEB1 0 genome.wustl.edu 37 1 29041308 29041308 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 29041308 29041308 T C SNP GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.464 - - - no_errors GMEB1 HGNC ENSG00000162419 78 0 0 63 20 24.0964 YTHDF2 0 genome.wustl.edu 37 1 29070470 29070470 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 29070470 29070470 G A SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.1688 p.R563H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 69 0 0 38 15 28.3019 FABP3 0 genome.wustl.edu 37 1 31838696 31838696 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 31838696 31838696 G A SNP FABP3 ENST00000497275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP3 HGNC ENSG00000121769 39 0 0 36 10 21.7391 SERINC2 0 genome.wustl.edu 37 1 31899570 31899570 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 31899570 31899570 A G SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known missense c.707 p.Y236C 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 249 0 0 187 30 13.8249 BAI2 0 genome.wustl.edu 37 1 32221679 32221679 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32221679 32221679 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known silent c.759 p.P253 0.296 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 128 0 0 79 24 23.301 CCDC28B 0 genome.wustl.edu 37 1 32667684 32667684 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32667684 32667684 C T SNP CCDC28B ENST00000373602 human ensembl 74_37 +1 known missense c.148 p.R50W 1.000 NULL NULL - no_errors CCDC28B HGNC ENSG00000160050 66 0 0 51 11 17.7419 IQCC 0 genome.wustl.edu 37 1 32673020 32673020 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32673020 32673020 C T SNP IQCC ENST00000537469 human ensembl 74_37 +1 known silent c.978 p.D326 0.326 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 72 0 0 42 19 31.1475 EIF3I 0 genome.wustl.edu 37 1 32694367 32694367 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32694367 32694367 C T SNP EIF3I ENST00000373586 human ensembl 74_37 +1 known missense c.679 p.R227W 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 687 0 0 407 140 25.5941 HDAC1 0 genome.wustl.edu 37 1 32796452 32796452 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32796452 32796452 G A SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known missense c.922 p.V308I 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 106 0 0 77 20 20.6186 BSDC1 0 genome.wustl.edu 37 1 32842196 32842196 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32842196 32842196 T C SNP BSDC1 ENST00000341071 human ensembl 74_37 -1 known missense c.874 p.T292A 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 231 0 0 171 45 20.8333 RBBP4 0 genome.wustl.edu 37 1 33117607 33117607 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33117607 33117607 A G SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.109 p.T37A 1.000 pfam_Histone-bd_RBBP4_N pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 199 0 0 118 33 21.8543 TMEM54 0 genome.wustl.edu 37 1 33360402 33360402 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33360402 33360402 T C SNP TMEM54 ENST00000474144 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM54 HGNC ENSG00000121900 110 0 0 87 22 20.1835 RNF19B 0 genome.wustl.edu 37 1 33415365 33415365 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33415365 33415365 T C SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.646 p.I216V 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 76 0 0 67 15 18.2927 PRDM16 0 genome.wustl.edu 37 1 3342703 3342703 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3342703 3342703 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.3198 p.D1066 0.793 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 116 0 0 69 20 22.4719 PHC2 0 genome.wustl.edu 37 1 33795727 33795727 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33795727 33795727 C T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.2093 p.R698H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 42 0 0 20 4 16.6667 ZSCAN20 0 genome.wustl.edu 37 1 33956657 33956657 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33956657 33956657 G A SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.799 p.E267K 0.007 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 131 0 0 76 21 21.6495 ZSCAN20 0 genome.wustl.edu 37 1 33956724 33956724 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33956724 33956724 A T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.866 p.D289V 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 134 0 0 105 13 11.0169 ZSCAN20 0 genome.wustl.edu 37 1 33960491 33960491 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33960491 33960491 T C SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known silent c.2547 p.A849 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 443 1 0.225225 300 91 23.2737 MEGF6 0 genome.wustl.edu 37 1 3417557 3417557 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3417557 3417557 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.2548 p.G850R 0.998 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 67 0 0 46 18 28.125 MEGF6 0 genome.wustl.edu 37 1 3425206 3425206 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3425206 3425206 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.1576 p.D526N 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 85 0 0 59 17 22.3684 CSMD2 0 genome.wustl.edu 37 1 34383824 34383824 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 34383824 34383824 T C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.791 p.N264S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 98 0 0 72 12 14.2857 GJB4 0 genome.wustl.edu 37 1 35226975 35226975 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35226975 35226975 G T SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known silent c.120 p.A40 0.001 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 62 0 0 33 7 17.5 GJB3 0 genome.wustl.edu 37 1 35250706 35250706 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35250706 35250706 A G SNP GJB3 ENST00000373362 human ensembl 74_37 +1 known missense c.343 p.K115E 0.998 prints_Connexin31 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 136 0 0 116 12 9.375 TPRG1L 0 genome.wustl.edu 37 1 3544202 3544202 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3544202 3544202 A G SNP TPRG1L ENST00000378344 human ensembl 74_37 +1 known silent c.609 p.T203 0.313 NULL pfam_Inositol_phosphatase - no_errors TPRG1L HGNC ENSG00000158109 186 0 0 146 16 9.87654 ZMYM4 0 genome.wustl.edu 37 1 35864507 35864507 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35864507 35864507 T C SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.3296 p.V1099A 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 168 0 0 139 39 21.9101 CLSPN 0 genome.wustl.edu 37 1 36202565 36202565 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36202565 36202565 T C SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known missense c.3859 p.T1287A 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 219 1 0.454545 136 34 20 AGO1 0 genome.wustl.edu 37 1 36358271 36358271 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36358271 36358271 A G SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.323 p.N108S 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 99 0 0 78 19 19.5876 AGO1 0 genome.wustl.edu 37 1 36367936 36367936 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36367936 36367936 C T SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known silent c.1395 p.L465 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 92 0 0 47 16 25.3968 ADPRHL2 0 genome.wustl.edu 37 1 36557305 36557305 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36557305 36557305 G A SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.395 p.C132Y 0.953 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 131 0 0 104 10 8.77193 TRAPPC3 0 genome.wustl.edu 37 1 36602838 36602838 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36602838 36602838 C T SNP TRAPPC3 ENST00000373166 human ensembl 74_37 -1 known missense c.509 p.R170Q 1.000 superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 - no_errors TRAPPC3 HGNC ENSG00000054116 143 0 0 110 37 25.1701 MAP7D1 0 genome.wustl.edu 37 1 36645665 36645665 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36645665 36645665 A G SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.2512 p.T838A 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 61 0 0 53 9 14.5161 CCDC27 0 genome.wustl.edu 37 1 3679950 3679950 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3679950 3679950 G A SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known silent c.1233 p.L411 0.145 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 67 0 0 48 13 21.3115 CSF3R 0 genome.wustl.edu 37 1 36940985 36940985 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 36940985 36940985 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known silent c.354 p.R118 0.085 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 105 1 0.943396 68 24 26.087 GRIK3 0 genome.wustl.edu 37 1 37319265 37319265 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 37319265 37319265 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1163 p.T388M 0.989 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 75 0 0 44 16 26.6667 SNIP1 0 genome.wustl.edu 37 1 38005863 38005863 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 38005863 38005863 T C SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known missense c.821 p.Y274C 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 216 0 0 122 39 24.2236 GNL2 0 genome.wustl.edu 37 1 38056365 38056365 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 38056365 38056365 A G SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.326 p.V109A 1.000 pfam_NOG2_N_dom pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 118 0 0 89 25 21.9298 C1orf174 0 genome.wustl.edu 37 1 3809519 3809519 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3809519 3809519 T C SNP C1orf174 ENST00000361605 human ensembl 74_37 -1 known silent c.57 p.R19 0.000 NULL NULL - no_errors C1orf174 HGNC ENSG00000198912 43 0 0 24 9 27.2727 EPHA10 0 genome.wustl.edu 37 1 38227235 38227235 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 38227235 38227235 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.692 p.S231F 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 26 0 0 21 7 25 POU3F1 0 genome.wustl.edu 37 1 38511620 38511620 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 38511620 38511620 G A SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known missense c.796 p.R266C 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 65 0 0 48 8 14.2857 MACF1 0 genome.wustl.edu 37 1 39765930 39765930 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 39765930 39765930 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.2545 p.V849I 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 251 1 0.396825 177 44 19.9095 PABPC4 0 genome.wustl.edu 37 1 40029377 40029377 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 40029377 40029377 G A SNP PABPC4 ENST00000372858 human ensembl 74_37 -1 known missense c.1577 p.A526V 0.994 superfamily_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 103 0 0 69 12 14.8148 RLF 0 genome.wustl.edu 37 1 40661362 40661362 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 40661362 40661362 T C SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.533 p.V178A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 100 0 0 64 14 17.9487 ZNF684 0 genome.wustl.edu 37 1 41012267 41012267 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 41012267 41012267 A C SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known missense c.272 p.K91T 0.780 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 162 0 0 104 17 14.0496 SLFNL1 0 genome.wustl.edu 37 1 41486096 41486096 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 41486096 41486096 C T SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known silent c.237 p.A79 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 112 0 0 74 14 15.9091 C1orf210 0 genome.wustl.edu 37 1 43748598 43748598 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 43748598 43748598 C T SNP C1orf210 ENST00000423420 human ensembl 74_37 -1 known missense c.200 p.R67H 0.043 NULL NULL - no_errors C1orf210 HGNC ENSG00000253313 82 0 0 71 14 16.4706 TIE1 0 genome.wustl.edu 37 1 43773195 43773195 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 43773195 43773195 T C SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.865 p.Y289H 1.000 smart_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 69 0 0 58 9 13.4328 TIE1 0 genome.wustl.edu 37 1 43785145 43785145 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 43785145 43785145 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.3052 p.R1018C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 251 1 0.396825 201 44 17.9592 SZT2 0 genome.wustl.edu 37 1 43893400 43893400 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 43893400 43893400 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.3627 p.I1209 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 40 0 0 35 3 7.89474 IPO13 0 genome.wustl.edu 37 1 44432664 44432664 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 44432664 44432664 T C SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known silent c.2586 p.G862 0.944 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 73 0 0 66 14 17.5 DPH2 0 genome.wustl.edu 37 1 44437671 44437671 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 44437671 44437671 C T SNP DPH2 ENST00000255108 human ensembl 74_37 +1 known missense c.1097 p.A366V 1.000 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 103 1 0.961538 77 18 18.9474 ERI3 0 genome.wustl.edu 37 1 44804743 44804743 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 44804743 44804743 A G SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known missense c.463 p.C155R 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 324 0 0 205 35 14.5833 ERI3 0 genome.wustl.edu 37 1 44804978 44804978 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 44804978 44804978 T C SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known silent c.228 p.G76 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 190 0 0 126 32 20.2532 BEST4 0 genome.wustl.edu 37 1 45250930 45250930 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 45250930 45250930 G A SNP BEST4 ENST00000372207 human ensembl 74_37 -1 known silent c.762 p.G254 0.990 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 64 0 0 37 13 26 MAST2 0 genome.wustl.edu 37 1 46496683 46496683 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 46496683 46496683 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2713 p.R905W 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 24 0 0 30 8 21.0526 TAL1 0 genome.wustl.edu 37 1 47691500 47691500 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 47691500 47691500 C T SNP TAL1 ENST00000371883 human ensembl 74_37 -1 known missense c.61 p.A21T 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 32 0 0 35 4 10.2564 AJAP1 0 genome.wustl.edu 37 1 4834505 4834505 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 4834505 4834505 G A SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.1182 p.R394 0.988 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 171 0 0 98 24 19.6721 BEND5 0 genome.wustl.edu 37 1 49201945 49201945 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 49201945 49201945 T C SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.1074 p.P358 0.773 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 300 1 0.332226 168 24 12.5 TTC39A 0 genome.wustl.edu 37 1 51767291 51767291 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 51767291 51767291 A G SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1114 p.S372P 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 38 0 0 23 4 14.8148 OSBPL9 0 genome.wustl.edu 37 1 52252277 52252277 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 52252277 52252277 A G SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.2042 p.Y681C 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 38 0 0 40 10 20 ZCCHC11 0 genome.wustl.edu 37 1 52961105 52961105 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 52961105 52961105 A G SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known silent c.1260 p.P420 0.907 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 122 0 0 89 26 22.6087 SELRC1 0 genome.wustl.edu 37 1 53153604 53153604 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 53153604 53153604 G A SNP SELRC1 ENST00000371538 human ensembl 74_37 -1 known missense c.484 p.P162S 0.940 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 158 0 0 103 18 14.876 SCP2 0 genome.wustl.edu 37 1 53513586 53513586 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 53513586 53513586 A G SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known missense c.1525 p.T509A 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 177 0 0 144 20 12.1951 SLC1A7 0 genome.wustl.edu 37 1 53554604 53554604 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 53554604 53554604 G A SNP SLC1A7 ENST00000371494 human ensembl 74_37 -1 known missense c.1409 p.A470V 0.990 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 99 0 0 64 22 25.5814 CPT2 0 genome.wustl.edu 37 1 53675834 53675834 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 53675834 53675834 T C SNP CPT2 ENST00000371486 human ensembl 74_37 +1 known missense c.488 p.L163P 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 192 0 0 127 29 18.5897 DMRTB1 0 genome.wustl.edu 37 1 53930411 53930411 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 53930411 53930411 C T SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known silent c.852 p.L284 0.993 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 73 0 0 64 4 5.88235 GLIS1 0 genome.wustl.edu 37 1 53974836 53974836 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 53974836 53974836 C T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known silent c.1662 p.R554 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 11 0 0 5 3 37.5 ACOT11 0 genome.wustl.edu 37 1 55065067 55065067 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 55065067 55065067 T C SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.863 p.V288A 1.000 pfam_Thioestr_supf pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 277 2 0.716846 199 54 21.3439 ACOT11 0 genome.wustl.edu 37 1 55069590 55069590 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 55069590 55069590 C T SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.1132 p.P378S 1.000 NULL pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 174 0 0 131 21 13.8158 MROH7 0 genome.wustl.edu 37 1 55175638 55175638 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 55175638 55175638 T C SNP MROH7 ENST00000421030 human ensembl 74_37 +1 known silent c.3750 p.H1250 0.981 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7 HGNC ENSG00000184313 115 0 0 79 19 19.3878 USP24 0 genome.wustl.edu 37 1 55624619 55624619 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 55624619 55624619 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known nonsense c.823 p.R275* 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 35 0 0 24 6 20 C1orf168 0 genome.wustl.edu 37 1 57284984 57284984 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 57284984 57284984 T C SNP C1orf168 ENST00000484327 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf168 HGNC ENSG00000187889 57 0 0 33 7 17.5 C8B 0 genome.wustl.edu 37 1 57415420 57415420 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 57415420 57415420 T G SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.672 p.Q224H 1.000 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 74 0 0 59 15 20.2703 C8B 0 genome.wustl.edu 37 1 57425755 57425755 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 57425755 57425755 T C SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.187 p.I63V 0.994 superfamily_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 150 0 0 114 28 19.7183 CHD5 0 genome.wustl.edu 37 1 6204099 6204099 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6204099 6204099 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.1919 p.A640V 0.691 superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 177 0 0 148 22 12.9412 CHD5 0 genome.wustl.edu 37 1 6212526 6212526 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6212526 6212526 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.816 p.A272 0.001 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 90 0 0 52 16 23.5294 L1TD1 0 genome.wustl.edu 37 1 62676144 62676144 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 62676144 62676144 T C SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known silent c.1698 p.H566 0.000 pfam_Transposase_22 pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 142 0 0 90 11 10.8911 DOCK7 0 genome.wustl.edu 37 1 62970361 62970361 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 62970361 62970361 T C SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.4677 p.I1559M 0.017 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 115 1 0.862069 83 16 16.1616 GPR153 0 genome.wustl.edu 37 1 6313900 6313900 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6313900 6313900 C T SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known missense c.664 p.A222T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 21 0 0 27 5 15.625 ACOT7 0 genome.wustl.edu 37 1 6399491 6399491 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6399491 6399491 A G SNP ACOT7 ENST00000377855 human ensembl 74_37 -1 known splice_site c.448+2 e3+2 1.000 - - - no_errors ACOT7 HGNC ENSG00000097021 111 0 0 73 15 17.0455 CACHD1 0 genome.wustl.edu 37 1 65147750 65147750 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 65147750 65147750 C T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.3547 p.R1183C 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 102 1 0.970874 71 21 22.8261 RAVER2 0 genome.wustl.edu 37 1 65243402 65243402 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 65243402 65243402 A G SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.413 p.Q138R 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 342 0 0 247 66 21.0863 TNFRSF25 0 genome.wustl.edu 37 1 6524767 6524767 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6524767 6524767 G A SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.308 p.A103V 0.743 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 55 0 0 30 7 18.9189 MIR101-1 0 genome.wustl.edu 37 1 65524156 65524156 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 65524156 65524156 A G SNP MIR101-1 ENST00000362265 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MIR101-1 HGNC ENSG00000199135 83 0 0 55 16 22.5352 DNAJC6 0 genome.wustl.edu 37 1 65830470 65830470 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 65830470 65830470 T C SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known splice_site c.344+2 e2+2 1.000 - - - no_errors DNAJC6 HGNC ENSG00000116675 354 1 0.28169 239 51 17.5862 TAS1R1 0 genome.wustl.edu 37 1 6631009 6631009 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6631009 6631009 G A SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.232 p.A78T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 205 0 0 121 44 26.6667 KLHL21 0 genome.wustl.edu 37 1 6659354 6659354 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6659354 6659354 G A SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known missense c.1180 p.R394C 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 67 0 0 42 11 20.7547 SGIP1 0 genome.wustl.edu 37 1 67105497 67105497 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 67105497 67105497 A T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.221 p.E74V 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 191 0 0 92 25 21.3675 SGIP1 0 genome.wustl.edu 37 1 67185012 67185012 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 67185012 67185012 G A SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1759 p.A587T 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 86 0 0 61 7 10.2941 WDR78 0 genome.wustl.edu 37 1 67337080 67337080 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 67337080 67337080 A T SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.913 p.C305S 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 178 0 0 148 33 18.232 GNG12 0 genome.wustl.edu 37 1 68171216 68171216 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 68171216 68171216 T C SNP GNG12 ENST00000370982 human ensembl 74_37 -1 known missense c.137 p.H46R 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 171 0 0 107 21 16.4062 GNG12 0 genome.wustl.edu 37 1 68171242 68171242 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 68171242 68171242 C T SNP GNG12 ENST00000370982 human ensembl 74_37 -1 known silent c.111 p.A37 0.218 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 148 0 0 97 28 22.4 WLS 0 genome.wustl.edu 37 1 68564378 68564378 + Nonsense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 68564378 68564378 A T SNP WLS ENST00000540432 human ensembl 74_37 -1 known nonsense c.1575 p.Y525* 0.035 NULL NULL - no_errors WLS HGNC ENSG00000116729 157 0 0 133 26 16.3522 ZRANB2 0 genome.wustl.edu 37 1 71530743 71530743 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 71530743 71530743 T C SNP ZRANB2 ENST00000477096 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 34 0 0 28 5 15.1515 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957869 74957869 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 74957869 74957869 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2612 p.R871Q 1.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 405 1 0.246305 255 63 19.8113 C1orf173 0 genome.wustl.edu 37 1 75108709 75108709 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 75108709 75108709 A G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known splice_site c.315+2 e4+2 1.000 - - - no_errors C1orf173 HGNC ENSG00000178965 172 0 0 102 27 20.9302 CRYZ 0 genome.wustl.edu 37 1 75188918 75188918 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 75188918 75188918 C T SNP CRYZ ENST00000340866 human ensembl 74_37 -1 known missense c.148 p.V50M 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 244 0 0 162 33 16.9231 LHX8 0 genome.wustl.edu 37 1 75606712 75606712 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 75606712 75606712 G A SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.310 p.V104I 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 270 0 0 183 42 18.6667 RABGGTB 0 genome.wustl.edu 37 1 76256992 76256992 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 76256992 76256992 T C SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known silent c.438 p.S146 0.995 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 243 0 0 156 27 14.7541 PIGK 0 genome.wustl.edu 37 1 77620132 77620132 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 77620132 77620132 A G SNP PIGK ENST00000370812 human ensembl 74_37 -1 known splice_site c.986+2 e9+2 1.000 - - - no_errors PIGK HGNC ENSG00000142892 109 0 0 76 13 14.6067 PIGK 0 genome.wustl.edu 37 1 77629529 77629529 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 77629529 77629529 A G SNP PIGK ENST00000370812 human ensembl 74_37 -1 known splice_site c.584+2 e6+2 1.000 - - - no_errors PIGK HGNC ENSG00000142892 126 0 0 90 17 15.8879 FAM73A 0 genome.wustl.edu 37 1 78326981 78326981 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 78326981 78326981 A G SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.1348 p.T450A 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 118 0 0 94 20 17.5439 FAM73A 0 genome.wustl.edu 37 1 78329681 78329681 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 78329681 78329681 A G SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.1477 p.N493D 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 135 0 0 87 23 20.9091 PER3 0 genome.wustl.edu 37 1 7890044 7890044 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 7890044 7890044 A G SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.3010 p.T1004A 0.126 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 168 0 0 141 16 10.1911 ERRFI1 0 genome.wustl.edu 37 1 8073280 8073280 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 8073280 8073280 A G SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known missense c.1379 p.V460A 1.000 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 119 0 0 71 19 21.1111 ERRFI1 0 genome.wustl.edu 37 1 8074243 8074243 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 8074243 8074243 A G SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known missense c.416 p.L139P 0.000 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 241 0 0 169 44 20.6573 LPHN2 0 genome.wustl.edu 37 1 82372891 82372891 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 82372891 82372891 A T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.263 p.D88V 1.000 pfam_Lectin_gal-bd_dom,prints_GPCR_2_latrophilin,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 154 0 0 121 33 21.4286 SLC45A1 0 genome.wustl.edu 37 1 8397983 8397983 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 8397983 8397983 T C SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1807 p.Y603H 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 160 0 0 134 40 22.9885 PRKACB 0 genome.wustl.edu 37 1 84610152 84610152 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 84610152 84610152 T C SNP PRKACB ENST00000370685 human ensembl 74_37 +1 known silent c.108 p.G36 0.352 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 299 0 0 212 61 22.3443 SSX2IP 0 genome.wustl.edu 37 1 85130189 85130189 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 85130189 85130189 T C SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.584 p.N195S 1.000 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 260 0 0 172 29 14.4279 MCOLN2 0 genome.wustl.edu 37 1 85424273 85424273 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 85424273 85424273 T C SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.350 p.Y117C 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 188 0 0 120 20 14.2857 MCOLN2 0 genome.wustl.edu 37 1 85431242 85431242 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 85431242 85431242 A G SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.227 p.V76A 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 125 0 0 83 22 20.9524 WDR63 0 genome.wustl.edu 37 1 85598648 85598648 + Silent SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 85598648 85598648 C G SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known silent c.2643 p.V881 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 266 0 0 192 47 19.6653 COL24A1 0 genome.wustl.edu 37 1 86591117 86591117 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 86591117 86591117 A G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.902 p.V301A 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 243 0 0 176 41 18.894 COL24A1 0 genome.wustl.edu 37 1 86591185 86591185 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 86591185 86591185 T C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.834 p.V278 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 243 0 0 202 35 14.7679 CLCA2 0 genome.wustl.edu 37 1 86921029 86921029 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 86921029 86921029 C T SNP CLCA2 ENST00000370565 human ensembl 74_37 +1 known missense c.2651 p.A884V 0.030 NULL pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA2 HGNC ENSG00000137975 512 0 0 332 117 26.0579 NOC2L 0 genome.wustl.edu 37 1 880168 880168 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 880168 880168 T C SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.2156 p.D719G 0.876 NULL pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 25 0 0 18 2 10 NOC2L 0 genome.wustl.edu 37 1 887850 887850 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 887850 887850 A G SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.1133 p.F378S 1.000 pfam_Noc2,superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 66 0 0 54 6 10 CCBL2 0 genome.wustl.edu 37 1 89408756 89408756 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 89408756 89408756 C T SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known missense c.1234 p.V412I 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 326 1 0.30581 219 62 22.0641 GBP3 0 genome.wustl.edu 37 1 89479832 89479832 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 89479832 89479832 A G SNP GBP3 ENST00000370481 human ensembl 74_37 -1 known silent c.559 p.L187 0.007 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 246 0 0 160 38 19.1919 GBP6 0 genome.wustl.edu 37 1 89848299 89848299 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 89848299 89848299 T G SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.1229 p.L410R 0.012 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 200 0 0 146 30 17.0455 LRRC8B 0 genome.wustl.edu 37 1 90058418 90058418 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 90058418 90058418 A G SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.2228 p.H743R 0.008 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 246 0 0 198 51 20.4819 CA6 0 genome.wustl.edu 37 1 9005977 9005977 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 9005977 9005977 T C SNP CA6 ENST00000377443 human ensembl 74_37 +1 known missense c.32 p.F11S 0.055 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 130 0 0 93 17 15.4545 ZNF326 0 genome.wustl.edu 37 1 90493124 90493124 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 90493124 90493124 T C SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known missense c.1613 p.V538A 0.000 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 43 0 0 20 7 25.9259 ZNF644 0 genome.wustl.edu 37 1 91405701 91405701 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 91405701 91405701 T C SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.1210 p.T404A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 323 1 0.308642 275 15 5.17241 ZNF644 0 genome.wustl.edu 37 1 91406703 91406703 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 91406703 91406703 T C SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.208 p.N70D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 316 0 0 215 48 18.251 CDC7 0 genome.wustl.edu 37 1 91977451 91977451 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 91977451 91977451 C T SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known silent c.543 p.S181 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 120 0 0 85 11 11.4583 H6PD 0 genome.wustl.edu 37 1 9305622 9305622 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 9305622 9305622 T C SNP H6PD ENST00000377403 human ensembl 74_37 +1 known splice_site c.627+2 e1+2 1.000 - - - no_errors H6PD HGNC ENSG00000049239 54 0 0 45 10 18.1818 MTF2 0 genome.wustl.edu 37 1 93544971 93544971 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 93544971 93544971 T C SNP MTF2 ENST00000471953 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MTF2 HGNC ENSG00000143033 10 0 0 5 2 28.5714 CCDC18 0 genome.wustl.edu 37 1 93705385 93705385 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 93705385 93705385 A G SNP CCDC18 ENST00000334652 human ensembl 74_37 +1 known missense c.790 p.T264A 0.066 NULL NULL - no_errors CCDC18 HGNC ENSG00000122483 143 0 0 100 21 17.3554 ABCA4 0 genome.wustl.edu 37 1 94544999 94544999 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 94544999 94544999 A G SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.1118 p.L373S 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 144 0 0 115 25 17.8571 ABCD3 0 genome.wustl.edu 37 1 94980753 94980753 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 94980753 94980753 C T SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known missense c.1969 p.H657Y 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 208 0 0 142 39 21.547 RWDD3 0 genome.wustl.edu 37 1 95709937 95709937 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 95709937 95709937 A G SNP RWDD3 ENST00000370202 human ensembl 74_37 +1 known missense c.256 p.N86D 0.752 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD3 HGNC ENSG00000122481 167 0 0 145 40 21.6216 AGRN 0 genome.wustl.edu 37 1 979559 979559 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 979559 979559 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.2070 p.R690 0.000 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 114 0 0 89 15 14.4231 LPPR4 0 genome.wustl.edu 37 1 99772369 99772369 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 99772369 99772369 G A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.2095 p.G699R 0.963 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 59 0 0 30 7 18.9189 PYROXD2 0 genome.wustl.edu 37 10 100167720 100167720 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 100167720 100167720 G A SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.182 p.A61V 0.098 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 29 0 0 17 4 19.0476 SLC25A28 0 genome.wustl.edu 37 10 101373648 101373648 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 101373648 101373648 C T SNP SLC25A28 ENST00000370495 human ensembl 74_37 -1 known missense c.325 p.A109T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A28 HGNC ENSG00000155287 43 0 0 33 5 13.1579 ABCC2 0 genome.wustl.edu 37 10 101591749 101591749 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 101591749 101591749 T C SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.3119 p.I1040T 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 319 0 0 215 42 16.3424 DNMBP 0 genome.wustl.edu 37 10 101656041 101656041 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 101656041 101656041 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3106 p.T1036A 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 79 0 0 66 14 17.5 SEC31B 0 genome.wustl.edu 37 10 102249885 102249885 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 102249885 102249885 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2845 p.R949C 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 120 0 0 88 22 20 FAM178A 0 genome.wustl.edu 37 10 102690834 102690834 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 102690834 102690834 G A SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.2435 p.R812Q 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 194 0 0 146 47 24.3523 FBXW4 0 genome.wustl.edu 37 10 103371117 103371117 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103371117 103371117 A G SNP FBXW4 ENST00000331272 human ensembl 74_37 -1 known silent c.1170 p.R390 0.940 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 96 0 0 78 17 17.8947 MGEA5 0 genome.wustl.edu 37 10 103553747 103553747 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103553747 103553747 T C SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.1993 p.S665G 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 362 0 0 241 49 16.8966 MGEA5 0 genome.wustl.edu 37 10 103560141 103560141 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103560141 103560141 A G SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known silent c.1053 p.S351 1.000 superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 160 1 0.621118 114 18 13.6364 KCNIP2 0 genome.wustl.edu 37 10 103587421 103587421 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103587421 103587421 T C SNP KCNIP2 ENST00000239117 human ensembl 74_37 -1 known missense c.532 p.T178A 0.010 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP2 HGNC ENSG00000120049 112 0 0 64 15 18.9873 C10orf76 0 genome.wustl.edu 37 10 103766311 103766311 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103766311 103766311 G A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.1034 p.P345L 0.998 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 166 0 0 131 28 17.6101 PITX3 0 genome.wustl.edu 37 10 103990855 103990855 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103990855 103990855 A G SNP PITX3 ENST00000370002 human ensembl 74_37 -1 known missense c.325 p.W109R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 12 0 0 8 5 38.4615 GBF1 0 genome.wustl.edu 37 10 104127249 104127249 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104127249 104127249 T A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.2571 p.N857K 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 71 0 0 67 11 14.1026 GBF1 0 genome.wustl.edu 37 10 104129053 104129053 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104129053 104129053 A G SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.3056 p.H1019R 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 160 1 0.621118 121 40 24.8447 GBF1 0 genome.wustl.edu 37 10 104129985 104129985 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104129985 104129985 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.3391 p.L1131 0.942 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 427 0 0 256 66 20.4969 CUEDC2 0 genome.wustl.edu 37 10 104183602 104183602 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104183602 104183602 G A SNP CUEDC2 ENST00000369937 human ensembl 74_37 -1 known silent c.609 p.R203 0.767 NULL pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC ENSG00000107874 84 0 0 42 9 17.6471 SUFU 0 genome.wustl.edu 37 10 104268964 104268964 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104268964 104268964 A G SNP SUFU ENST00000369902 human ensembl 74_37 +1 known missense c.221 p.Y74C 1.000 pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 214 1 0.465116 165 27 14.0625 SUFU 0 genome.wustl.edu 37 10 104389822 104389822 + Splice_Site SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104389822 104389822 G A SNP SUFU ENST00000369902 human ensembl 74_37 +1 known splice_site c.1366-1 e12-1 1.000 - - - no_errors SUFU HGNC ENSG00000107882 232 0 0 202 49 19.5219 WBP1L 0 genome.wustl.edu 37 10 104557834 104557834 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104557834 104557834 T C SNP WBP1L ENST00000448841 human ensembl 74_37 +1 known missense c.175 p.Y59H 1.000 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 150 0 0 77 21 21.4286 AS3MT 0 genome.wustl.edu 37 10 104638614 104638614 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 104638614 104638614 C T SNP AS3MT ENST00000369880 human ensembl 74_37 +1 known missense c.751 p.R251C 1.000 NULL pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC ENSG00000214435 175 0 0 107 28 20.7407 USMG5 0 genome.wustl.edu 37 10 105151956 105151956 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 105151956 105151956 T C SNP USMG5 ENST00000309579 human ensembl 74_37 -1 known missense c.172 p.T58A 1.000 prints_DAPIT prints_DAPIT - no_errors USMG5 HGNC ENSG00000173915 127 0 0 76 21 21.6495 CALHM1 0 genome.wustl.edu 37 10 105217967 105217967 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 105217967 105217967 C T SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known missense c.542 p.R181H 1.000 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 87 0 0 53 11 17.1875 WDR96 0 genome.wustl.edu 37 10 105920859 105920859 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 105920859 105920859 T C SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.3476 p.K1159R 1.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 141 0 0 111 6 5.12821 SHOC2 0 genome.wustl.edu 37 10 112769489 112769489 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 112769489 112769489 A G SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known missense c.1441 p.N481D 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 98 0 0 85 22 20.5607 GPAM 0 genome.wustl.edu 37 10 113935430 113935430 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 113935430 113935430 A G SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.341 p.F114S 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 156 0 0 110 42 27.6316 GPAM 0 genome.wustl.edu 37 10 113937763 113937763 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 113937763 113937763 T C SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.278 p.Y93C 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 113 0 0 95 21 18.1034 CASP7 0 genome.wustl.edu 37 10 115451793 115451793 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 115451793 115451793 T C SNP CASP7 ENST00000369321 human ensembl 74_37 +1 known silent c.63 p.G21 0.260 NULL pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP7 HGNC ENSG00000165806 89 0 0 68 11 13.9241 TDRD1 0 genome.wustl.edu 37 10 115980582 115980582 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 115980582 115980582 T C SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.2750 p.V917A 0.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 171 0 0 120 34 22.0779 FAM160B1 0 genome.wustl.edu 37 10 116602927 116602927 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 116602927 116602927 T C SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.758 p.V253A 0.178 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 217 0 0 183 51 21.7949 FAM160B1 0 genome.wustl.edu 37 10 116603563 116603563 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 116603563 116603563 G A SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.880 p.A294T 0.982 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 77 0 0 81 20 19.802 TRUB1 0 genome.wustl.edu 37 10 116731926 116731926 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 116731926 116731926 T C SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.629 p.L210P 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 133 0 0 124 26 17.3333 ATRNL1 0 genome.wustl.edu 37 10 116930924 116930924 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 116930924 116930924 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known nonsense c.1222 p.Q408* 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 325 1 0.306748 253 55 17.8571 GFRA1 0 genome.wustl.edu 37 10 117884972 117884972 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 117884972 117884972 G T SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.530 p.P177Q 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 38 0 0 39 9 18.75 HSPA12A 0 genome.wustl.edu 37 10 118439100 118439100 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 118439100 118439100 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known silent c.1200 p.P400 0.001 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 182 1 0.546448 117 30 20.4082 PDZD8 0 genome.wustl.edu 37 10 119043331 119043331 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 119043331 119043331 T C SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known silent c.2913 p.T971 0.872 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 803 1 0.124378 511 121 19.1456 PDZD8 0 genome.wustl.edu 37 10 119043801 119043801 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 119043801 119043801 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.2443 p.P815S 0.001 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 180 0 0 146 31 17.5141 RAB11FIP2 0 genome.wustl.edu 37 10 119798815 119798815 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 119798815 119798815 T C SNP RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known silent c.933 p.L311 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 210 0 0 173 51 22.7679 SFXN4 0 genome.wustl.edu 37 10 120921921 120921921 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 120921921 120921921 A G SNP SFXN4 ENST00000355697 human ensembl 74_37 -1 known silent c.183 p.S61 0.945 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 105 0 0 66 17 20.4819 BAG3 0 genome.wustl.edu 37 10 121436385 121436385 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 121436385 121436385 A G SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known missense c.1319 p.D440G 0.998 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 72 0 0 52 9 14.7541 SEC23IP 0 genome.wustl.edu 37 10 121658045 121658045 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 121658045 121658045 T C SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known silent c.270 p.S90 0.995 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 323 0 0 223 58 20.6406 PPAPDC1A 0 genome.wustl.edu 37 10 122348907 122348907 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 122348907 122348907 C A SNP PPAPDC1A ENST00000398250 human ensembl 74_37 +1 known missense c.709 p.P237T 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1A HGNC ENSG00000203805 233 1 0.42735 166 23 12.1693 ADARB2 0 genome.wustl.edu 37 10 1232452 1232452 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 1232452 1232452 T C SNP ADARB2 ENST00000474762 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADARB2 HGNC ENSG00000185736 44 0 0 37 6 13.9535 TACC2 0 genome.wustl.edu 37 10 123989903 123989903 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 123989903 123989903 T C SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.8075 p.L2692P 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 196 1 0.507614 130 32 19.7531 TACC2 0 genome.wustl.edu 37 10 124013541 124013541 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 124013541 124013541 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.8817 p.D2939 0.932 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 157 0 0 87 28 24.3478 PSTK 0 genome.wustl.edu 37 10 124742484 124742484 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 124742484 124742484 A T SNP PSTK ENST00000368887 human ensembl 74_37 +1 known missense c.452 p.D151V 1.000 pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 347 0 0 177 41 18.8073 GPR26 0 genome.wustl.edu 37 10 125426422 125426422 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 125426422 125426422 C A SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.499 p.L167M 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 16 0 0 20 6 23.0769 GPR26 0 genome.wustl.edu 37 10 125426428 125426428 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 125426428 125426428 T C SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.505 p.F169L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 20 0 0 20 4 16.6667 GPR26 0 genome.wustl.edu 37 10 125447563 125447563 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 125447563 125447563 T C SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.901 p.Y301H 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 128 0 0 78 23 22.7723 GPR26 0 genome.wustl.edu 37 10 125447602 125447602 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 125447602 125447602 C T SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.940 p.H314Y 0.915 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 59 0 0 37 7 15.9091 CPXM2 0 genome.wustl.edu 37 10 125526528 125526528 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 125526528 125526528 A G SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known silent c.1440 p.Y480 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 169 1 0.588235 96 34 26.1538 CPXM2 0 genome.wustl.edu 37 10 125528175 125528175 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 125528175 125528175 A G SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1166 p.L389P 0.930 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 198 0 0 121 22 15.3846 C10orf137 0 genome.wustl.edu 37 10 127413917 127413917 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 127413917 127413917 T C SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.541 p.Y181H 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 162 0 0 87 28 24.3478 ADAM12 0 genome.wustl.edu 37 10 127730732 127730732 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 127730732 127730732 T C SNP ADAM12 ENST00000368676 human ensembl 74_37 -1 known missense c.2186 p.H729R 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ENSG00000148848 86 0 0 55 9 14.0625 C10orf90 0 genome.wustl.edu 37 10 128192694 128192694 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 128192694 128192694 C T SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.1366 p.A456T 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 91 0 0 75 15 16.6667 DOCK1 0 genome.wustl.edu 37 10 128821470 128821470 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 128821470 128821470 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.1271 p.V424A 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 149 0 0 114 31 21.3793 FAM196A 0 genome.wustl.edu 37 10 128974139 128974139 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 128974139 128974139 A G SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.521 p.V174A 0.997 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 139 0 0 102 6 5.55556 PTPRE 0 genome.wustl.edu 37 10 129871635 129871635 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 129871635 129871635 A G SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.1499 p.Q500R 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 101 0 0 71 7 8.97436 MKI67 0 genome.wustl.edu 37 10 129906399 129906399 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 129906399 129906399 A G SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.3705 p.G1235 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 233 1 0.42735 174 34 16.3462 PWWP2B 0 genome.wustl.edu 37 10 134218153 134218153 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 134218153 134218153 C T SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.149 p.P50L 0.131 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 272 0 0 202 60 22.9008 TTC40 0 genome.wustl.edu 37 10 134646945 134646945 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 134646945 134646945 A G SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.1517 p.V506A 0.010 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 303 1 0.328947 200 46 18.6992 GPR123 0 genome.wustl.edu 37 10 134886463 134886463 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 134886463 134886463 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.497 p.A166V 0.002 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 23 0 0 9 3 25 TUBGCP2 0 genome.wustl.edu 37 10 135099060 135099060 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 135099060 135099060 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.1879 p.A627T 1.000 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 22 0 0 13 5 27.7778 NMT2 0 genome.wustl.edu 37 10 15154898 15154898 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 15154898 15154898 T C SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.1235 p.H412R 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 218 1 0.456621 119 37 23.7179 FAM171A1 0 genome.wustl.edu 37 10 15255063 15255063 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 15255063 15255063 C T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.2524 p.A842T 0.002 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 246 0 0 171 28 14.0704 CUBN 0 genome.wustl.edu 37 10 16994323 16994323 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 16994323 16994323 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4921 p.Y1641H 0.992 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 175 0 0 86 20 18.8679 CACNB2 0 genome.wustl.edu 37 10 18823131 18823131 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 18823131 18823131 T C SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1181 p.V394A 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 296 0 0 196 41 17.2996 C10orf113 0 genome.wustl.edu 37 10 21414839 21414839 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 21414839 21414839 T C SNP C10orf113 ENST00000534331 human ensembl 74_37 -1 known missense c.381 p.I127M 0.990 NULL NULL - no_errors C10orf113 HGNC ENSG00000204683 305 0 0 229 62 21.3058 PIP4K2A 0 genome.wustl.edu 37 10 22896941 22896941 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 22896941 22896941 G A SNP PIP4K2A ENST00000376573 human ensembl 74_37 -1 known missense c.254 p.P85L 1.000 smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 42 0 0 49 9 15.5172 PIP4K2A 0 genome.wustl.edu 37 10 23003192 23003192 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 23003192 23003192 G A SNP PIP4K2A ENST00000376573 human ensembl 74_37 -1 known missense c.64 p.H22Y 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2A HGNC ENSG00000150867 40 0 0 29 4 12.1212 GPR158 0 genome.wustl.edu 37 10 25861658 25861658 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 25861658 25861658 T C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1595 p.V532A 0.995 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 166 0 0 112 42 27.2727 GPR158 0 genome.wustl.edu 37 10 25887184 25887184 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 25887184 25887184 T C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2629 p.C877R 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 202 0 0 177 13 6.84211 GPR158 0 genome.wustl.edu 37 10 25887641 25887641 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 25887641 25887641 T C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3086 p.V1029A 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 179 0 0 124 31 20 ANKRD26 0 genome.wustl.edu 37 10 27306695 27306695 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 27306695 27306695 C G SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.4290 p.E1430D 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 128 0 0 120 18 13.0435 ANKRD26 0 genome.wustl.edu 37 10 27382687 27382687 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 27382687 27382687 A G SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.284 p.V95A 0.988 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 95 0 0 65 15 18.75 MASTL 0 genome.wustl.edu 37 10 27454351 27454351 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 27454351 27454351 G A SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.694 p.A232T 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 227 0 0 157 49 23.7864 LRRC37A6P 0 genome.wustl.edu 37 10 27538044 27538044 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 27538044 27538044 C T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A6P HGNC ENSG00000230445 246 0 0 218 40 15.5039 PTCHD3 0 genome.wustl.edu 37 10 27687296 27687296 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 27687296 27687296 A T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.2231 p.I744N 0.983 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 104 0 0 80 5 5.88235 MPP7 0 genome.wustl.edu 37 10 28358700 28358700 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 28358700 28358700 C T SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known splice_site c.1204+1 e12+1 1.000 - - - no_errors MPP7 HGNC ENSG00000150054 67 0 0 51 11 17.7419 MPP7 0 genome.wustl.edu 37 10 28527589 28527589 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 28527589 28527589 A G SNP MPP7 ENST00000474682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP7 HGNC ENSG00000150054 31 0 0 10 4 28.5714 WAC 0 genome.wustl.edu 37 10 28897190 28897190 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 28897190 28897190 C T SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.995 p.P332L 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 218 0 0 146 42 22.3404 KIAA1462 0 genome.wustl.edu 37 10 30316194 30316194 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 30316194 30316194 A G SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known silent c.2883 p.V961 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 184 0 0 148 34 18.6813 KIAA1462 0 genome.wustl.edu 37 10 30317740 30317740 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 30317740 30317740 A T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.1337 p.I446K 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 231 0 0 159 32 16.7539 ZNF438 0 genome.wustl.edu 37 10 31134202 31134202 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 31134202 31134202 T C SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known silent c.2175 p.R725 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 195 0 0 166 36 17.8218 PITRM1 0 genome.wustl.edu 37 10 3199640 3199640 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 3199640 3199640 A G SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.1334 p.L445P 0.606 superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 56 0 0 36 9 20 EPC1 0 genome.wustl.edu 37 10 32575755 32575755 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 32575755 32575755 T C SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known missense c.1258 p.T420A 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 135 0 0 85 18 17.4757 C10orf68 0 genome.wustl.edu 37 10 32983820 32983820 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 32983820 32983820 A G SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known silent c.279 p.E93 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 62 0 0 34 12 26.087 NRP1 0 genome.wustl.edu 37 10 33481334 33481334 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 33481334 33481334 T C SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.1937 p.Y646C 1.000 pirsf_Neuropilin,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 582 0 0 375 75 16.6667 PARD3 0 genome.wustl.edu 37 10 34620065 34620065 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 34620065 34620065 T C SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.2822 p.D941G 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 108 0 0 89 20 18.3486 PARD3 0 genome.wustl.edu 37 10 34739363 34739363 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 34739363 34739363 T C SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.596 p.Y199C 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 126 0 0 78 29 27.1028 KLF6 0 genome.wustl.edu 37 10 3821740 3821740 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 3821740 3821740 C T SNP KLF6 ENST00000497571 human ensembl 74_37 -1 known silent c.843 p.R281 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 64 0 0 55 11 16.6667 ZNF33A 0 genome.wustl.edu 37 10 38345181 38345181 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 38345181 38345181 T C SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.2147 p.V716A 0.064 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 210 0 0 156 41 20.8122 ZNF33A 0 genome.wustl.edu 37 10 38345257 38345257 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 38345257 38345257 A G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known silent c.2223 p.E741 0.202 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 214 0 0 128 33 20.4969 DIP2C 0 genome.wustl.edu 37 10 395363 395363 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 395363 395363 T A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.3017 p.Q1006L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 104 0 0 53 13 19.697 ZNF37BP 0 genome.wustl.edu 37 10 43015108 43015108 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 43015108 43015108 A G SNP ZNF37BP ENST00000452075 human ensembl 74_37 -1 known rna NULL NULL 0.327 - - - no_errors ZNF37BP HGNC ENSG00000234420 17 0 0 15 6 28.5714 HNRNPF 0 genome.wustl.edu 37 10 43882564 43882564 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 43882564 43882564 T C SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known missense c.769 p.T257A 1.000 pfam_Znf_CHHC pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 63 0 0 51 10 16.3934 ZNF22 0 genome.wustl.edu 37 10 45499107 45499107 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 45499107 45499107 T C SNP ZNF22 ENST00000298299 human ensembl 74_37 +1 known silent c.291 p.N97 0.325 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ENSG00000165512 101 0 0 92 16 14.8148 ZFAND4 0 genome.wustl.edu 37 10 46159025 46159025 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 46159025 46159025 A G SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.149 p.V50A 1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 102 0 0 55 16 22.5352 FRMPD2 0 genome.wustl.edu 37 10 49395242 49395242 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 49395242 49395242 C A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.2259 p.M753I 0.000 superfamily_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 34 0 0 28 5 15.1515 FRMPD2 0 genome.wustl.edu 37 10 49400886 49400886 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 49400886 49400886 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.2006 p.R669Q 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 175 0 0 130 24 15.5844 FRMPD2 0 genome.wustl.edu 37 10 49447676 49447676 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 49447676 49447676 G A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.760 p.H254Y 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 127 0 0 72 13 15.2941 C10orf71 0 genome.wustl.edu 37 10 50532305 50532305 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 50532305 50532305 C T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.1715 p.P572L 0.596 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 61 0 0 50 10 16.6667 OGDHL 0 genome.wustl.edu 37 10 50946030 50946030 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 50946030 50946030 A G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2480 p.V827A 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 197 0 0 142 36 20.2247 OGDHL 0 genome.wustl.edu 37 10 50957801 50957801 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 50957801 50957801 A G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.958 p.F320L 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 14 0 0 5 3 37.5 ENSG00000226200 0 genome.wustl.edu 37 10 52389923 52389923 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 52389923 52389923 C T SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 49 0 0 50 6 10.7143 NET1 0 genome.wustl.edu 37 10 5498073 5498073 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 5498073 5498073 A G SNP NET1 ENST00000355029 human ensembl 74_37 +1 known silent c.1221 p.Q407 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 138 0 0 113 12 9.6 CALML5 0 genome.wustl.edu 37 10 5541219 5541219 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 5541219 5541219 G A SNP CALML5 ENST00000380332 human ensembl 74_37 -1 known silent c.183 p.D61 0.895 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML5 HGNC ENSG00000178372 85 0 0 70 17 19.5402 CALML3 0 genome.wustl.edu 37 10 5567441 5567441 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 5567441 5567441 G A SNP CALML3 ENST00000315238 human ensembl 74_37 +1 known silent c.393 p.T131 0.339 pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML3 HGNC ENSG00000178363 41 0 0 30 6 16.6667 BICC1 0 genome.wustl.edu 37 10 60562876 60562876 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 60562876 60562876 T C SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.2055 p.A685 0.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 81 0 0 66 14 17.5 PHYHIPL 0 genome.wustl.edu 37 10 60994089 60994089 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 60994089 60994089 A G SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.132 p.I44M 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 99 0 0 69 20 22.4719 FAM13C 0 genome.wustl.edu 37 10 61112119 61112119 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 61112119 61112119 C T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.235 p.V79I 0.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 73 0 0 77 10 11.4943 SLC16A9 0 genome.wustl.edu 37 10 61413938 61413938 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 61413938 61413938 A G SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known silent c.846 p.L282 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 413 0 0 263 70 21.021 ANK3 0 genome.wustl.edu 37 10 61832609 61832609 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 61832609 61832609 A G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8030 p.V2677A 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 182 0 0 137 24 14.9068 ARID5B 0 genome.wustl.edu 37 10 63852092 63852092 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 63852092 63852092 T C SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.2870 p.V957A 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 250 0 0 179 44 19.7309 JMJD1C 0 genome.wustl.edu 37 10 64944406 64944406 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 64944406 64944406 A G SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.6923 p.V2308A 0.999 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 182 0 0 125 28 18.3007 JMJD1C 0 genome.wustl.edu 37 10 64967249 64967249 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 64967249 64967249 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.4180 p.T1394A 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 267 0 0 174 54 23.6842 REEP3 0 genome.wustl.edu 37 10 65369961 65369961 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 65369961 65369961 A G SNP REEP3 ENST00000373758 human ensembl 74_37 +1 known missense c.432 p.I144M 0.994 NULL pfam_TB2_DP1_HVA22 - no_errors REEP3 HGNC ENSG00000165476 39 0 0 33 2 5.71429 CTNNA3 0 genome.wustl.edu 37 10 67748557 67748557 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 67748557 67748557 T C SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known splice_site c.2160-2 e15-2 0.994 - - - no_errors CTNNA3 HGNC ENSG00000183230 202 0 0 134 39 22.5434 HERC4 0 genome.wustl.edu 37 10 69785304 69785304 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 69785304 69785304 G A SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.907 p.R303W 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 336 1 0.296736 237 55 18.8356 DNA2 0 genome.wustl.edu 37 10 70191674 70191674 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70191674 70191674 T C SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.2186 p.Y729C 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 501 0 0 313 88 21.9451 TET1 0 genome.wustl.edu 37 10 70405606 70405606 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70405606 70405606 A G SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.3120 p.P1040 0.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 164 0 0 167 36 17.734 DDX50 0 genome.wustl.edu 37 10 70672961 70672961 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70672961 70672961 C T SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.683 p.A228V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 123 0 0 91 16 14.9533 SUPV3L1 0 genome.wustl.edu 37 10 70951476 70951476 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70951476 70951476 T C SNP SUPV3L1 ENST00000359655 human ensembl 74_37 +1 known silent c.807 p.A269 0.987 superfamily_P-loop_NTPase pfam_SUV3_C,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 108 0 0 66 20 23.2558 HKDC1 0 genome.wustl.edu 37 10 71003054 71003054 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 71003054 71003054 C A SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.808 p.L270M 0.155 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 144 0 0 100 31 23.6641 HK1 0 genome.wustl.edu 37 10 71128328 71128328 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 71128328 71128328 A G SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.637 p.S213G 0.999 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 110 0 0 104 12 10.3448 CDH23 0 genome.wustl.edu 37 10 73498265 73498265 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 73498265 73498265 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4235 p.T1412I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 112 0 0 106 19 15.2 CDH23 0 genome.wustl.edu 37 10 73553070 73553070 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 73553070 73553070 A T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.6400 p.N2134Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 104 0 0 75 18 19.3548 DNAJB12 0 genome.wustl.edu 37 10 74095633 74095633 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 74095633 74095633 C A SNP DNAJB12 ENST00000338820 human ensembl 74_37 -1 known missense c.1165 p.A389S 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB12 HGNC ENSG00000148719 100 0 0 104 19 15.4472 P4HA1 0 genome.wustl.edu 37 10 74813265 74813265 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 74813265 74813265 T C SNP P4HA1 ENST00000263556 human ensembl 74_37 -1 known missense c.547 p.T183A 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 279 0 0 208 46 18.1102 TTC18 0 genome.wustl.edu 37 10 75051441 75051441 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 75051441 75051441 A G SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known silent c.2187 p.A729 0.998 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 76 0 0 45 13 22.4138 USP54 0 genome.wustl.edu 37 10 75302625 75302625 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 75302625 75302625 C T SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.508 p.G170S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 71 0 0 61 12 16.4384 USP54 0 genome.wustl.edu 37 10 75331193 75331193 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 75331193 75331193 A G SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.226 p.F76L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 160 0 0 118 29 19.7279 NDST2 0 genome.wustl.edu 37 10 75563469 75563469 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 75563469 75563469 T C SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.2005 p.T669A 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 317 0 0 212 51 19.3916 ITIH5 0 genome.wustl.edu 37 10 7683905 7683905 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 7683905 7683905 A G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.284 p.I95T 1.000 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 180 0 0 149 27 15.3409 TAF3 0 genome.wustl.edu 37 10 7866512 7866512 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 7866512 7866512 C T SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.398 p.S133F 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 248 0 0 205 38 15.6379 DLG5 0 genome.wustl.edu 37 10 79589141 79589141 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 79589141 79589141 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.2157 p.P719 0.004 smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 198 0 0 125 38 23.3129 DLG5 0 genome.wustl.edu 37 10 79590513 79590513 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 79590513 79590513 A G SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.1867 p.F623L 1.000 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 110 0 0 66 7 9.58904 POLR3A 0 genome.wustl.edu 37 10 79769355 79769355 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 79769355 79769355 G T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1849 p.L617M 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 204 0 0 145 32 18.0791 TAF3 0 genome.wustl.edu 37 10 8006770 8006770 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 8006770 8006770 A G SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.1297 p.T433A 0.998 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 181 1 0.549451 139 38 21.4689 TAF3 0 genome.wustl.edu 37 10 8007187 8007187 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 8007187 8007187 A G SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.1714 p.T572A 0.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 95 0 0 77 8 9.41176 ZMIZ1 0 genome.wustl.edu 37 10 81056311 81056311 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 81056311 81056311 G A SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.1314 p.R438 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 105 0 0 54 15 21.7391 MAT1A 0 genome.wustl.edu 37 10 82033515 82033515 + RNA SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 82033515 82033515 C G SNP MAT1A ENST00000480845 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAT1A HGNC ENSG00000151224 206 0 0 152 44 22.449 ENSG00000270002 0 genome.wustl.edu 37 10 87406932 87406932 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 87406932 87406932 C T SNP ENSG00000270002 ENST00000474115 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-93H12.4 Clone_based_vega_gene ENSG00000270002 278 0 0 191 56 22.6721 GRID1 0 genome.wustl.edu 37 10 87615784 87615784 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 87615784 87615784 A G SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known splice_site c.1113+2 e7+2 0.998 - - - no_errors GRID1 HGNC ENSG00000182771 159 0 0 79 17 17.7083 ADIRF 0 genome.wustl.edu 37 10 88728350 88728350 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 88728350 88728350 G A SNP ADIRF ENST00000372013 human ensembl 74_37 +1 known missense c.49 p.A17T 0.035 NULL NULL - no_errors ADIRF HGNC ENSG00000148671 39 0 0 22 4 15.3846 ATAD1 0 genome.wustl.edu 37 10 89574266 89574266 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 89574266 89574266 A G SNP ATAD1 ENST00000308448 human ensembl 74_37 -1 known missense c.91 p.Y31H 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD1 HGNC ENSG00000138138 202 0 0 114 37 24.5033 IFIT3 0 genome.wustl.edu 37 10 91098570 91098570 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 91098570 91098570 T C SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.158 p.M53T 0.260 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 188 0 0 153 29 15.9341 HECTD2 0 genome.wustl.edu 37 10 93185148 93185148 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 93185148 93185148 T C SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known silent c.249 p.V83 0.997 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 61 0 0 42 11 20.7547 TNKS2 0 genome.wustl.edu 37 10 93596680 93596680 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 93596680 93596680 T C SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known silent c.1452 p.G484 0.939 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 77 0 0 57 11 16.1765 BTAF1 0 genome.wustl.edu 37 10 93740227 93740227 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 93740227 93740227 T C SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.1667 p.L556P 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 109 0 0 100 15 13.0435 CPEB3 0 genome.wustl.edu 37 10 93940759 93940759 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 93940759 93940759 A G SNP CPEB3 ENST00000265997 human ensembl 74_37 -1 known missense c.1183 p.F395L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 143 0 0 93 19 16.9643 MARCH5 0 genome.wustl.edu 37 10 94070932 94070932 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 94070932 94070932 A C SNP MARCH5 ENST00000358935 human ensembl 74_37 +1 known missense c.76 p.T26P 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 102 0 0 74 12 13.9535 CYP26A1 0 genome.wustl.edu 37 10 94834724 94834724 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 94834724 94834724 G A SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known silent c.603 p.A201 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 77 0 0 61 13 17.5676 PDE6C 0 genome.wustl.edu 37 10 95399875 95399875 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 95399875 95399875 T C SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known missense c.1531 p.F511L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 238 0 0 161 41 20.297 PDE6C 0 genome.wustl.edu 37 10 95400298 95400298 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 95400298 95400298 T G SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known missense c.1721 p.M574R 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 299 0 0 204 35 14.6444 FRA10AC1 0 genome.wustl.edu 37 10 95458056 95458056 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 95458056 95458056 A G SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known splice_site c.173+2 e2+2 1.000 - - - no_errors FRA10AC1 HGNC ENSG00000148690 174 0 0 103 32 23.7037 PLCE1 0 genome.wustl.edu 37 10 96081696 96081696 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 96081696 96081696 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.6381 p.E2127D 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 98 0 0 66 12 15.3846 HELLS 0 genome.wustl.edu 37 10 96306134 96306134 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 96306134 96306134 G A SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.32 p.G11D 0.007 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 159 0 0 93 30 24.3902 CYP2C18 0 genome.wustl.edu 37 10 96493085 96493085 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 96493085 96493085 T C SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1181 p.V394A 0.986 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 285 0 0 207 42 16.8675 ALDH18A1 0 genome.wustl.edu 37 10 97387227 97387227 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 97387227 97387227 A G SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known silent c.1050 p.G350 0.999 superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 353 0 0 248 42 14.4828 ALDH18A1 0 genome.wustl.edu 37 10 97392721 97392721 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 97392721 97392721 A G SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.803 p.V268A 1.000 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 106 0 0 85 14 14.1414 ZNF518A 0 genome.wustl.edu 37 10 97916643 97916643 + RNA SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 97916643 97916643 T A SNP ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 528 0 0 368 78 17.4888 ZNF518A 0 genome.wustl.edu 37 10 97918869 97918869 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 97918869 97918869 A G SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors ZNF518A HGNC ENSG00000177853 131 0 0 95 42 30.6569 ZNF518A 0 genome.wustl.edu 37 10 97920061 97920061 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 97920061 97920061 C T SNP ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.945 - - - no_errors ZNF518A HGNC ENSG00000177853 141 0 0 113 26 18.705 TM9SF3 0 genome.wustl.edu 37 10 98287919 98287919 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 98287919 98287919 C T SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known silent c.1410 p.T470 0.002 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 218 0 0 161 37 18.6869 RRP12 0 genome.wustl.edu 37 10 99126849 99126849 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 99126849 99126849 T A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.2996 p.H999L 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 53 0 0 44 12 21.4286 RRP12 0 genome.wustl.edu 37 10 99132949 99132949 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 99132949 99132949 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.2035 p.R679C 0.998 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 62 0 0 62 13 17.3333 RRP12 0 genome.wustl.edu 37 10 99148278 99148278 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 99148278 99148278 T C SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.857 p.K286R 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 109 0 0 70 19 21.3483 UBTD1 0 genome.wustl.edu 37 10 99330203 99330203 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 99330203 99330203 C T SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known missense c.607 p.R203W 0.977 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 74 0 0 35 17 32.6923 ZFYVE27 0 genome.wustl.edu 37 10 99498302 99498302 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 99498302 99498302 T C SNP ZFYVE27 ENST00000356257 human ensembl 74_37 +1 known missense c.68 p.L23P 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE27 HGNC ENSG00000155256 171 1 0.581395 145 40 21.6216 CNTN5 0 genome.wustl.edu 37 11 100221600 100221600 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 100221600 100221600 A G SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.3198 p.S1066 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 143 0 0 89 18 16.8224 KIAA1377 0 genome.wustl.edu 37 11 101815143 101815143 + Splice_Site SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 101815143 101815143 T A SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known splice_site c.394+2 e3+2 0.984 - - - no_errors KIAA1377 HGNC ENSG00000110318 95 0 0 56 18 24.3243 MUC6 0 genome.wustl.edu 37 11 1025234 1025234 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 1025234 1025234 A C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2933 p.L978R 0.943 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 183 0 0 151 34 18.3784 MMP10 0 genome.wustl.edu 37 11 102650475 102650475 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 102650475 102650475 T C SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.107 p.Q36R 0.442 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 130 0 0 98 16 14.0351 DYNC2H1 0 genome.wustl.edu 37 11 103068666 103068666 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 103068666 103068666 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.7713 p.S2571 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 15 0 0 5 5 50 DDI1 0 genome.wustl.edu 37 11 103907841 103907841 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 103907841 103907841 T C SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.291 p.S97 0.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 248 0 0 169 36 17.561 CARD16 0 genome.wustl.edu 37 11 104915212 104915212 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 104915212 104915212 C T SNP CARD16 ENST00000375706 human ensembl 74_37 -1 known missense c.181 p.V61I 0.003 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD16 HGNC ENSG00000204397 590 0 0 352 85 19.4508 CARD16 0 genome.wustl.edu 37 11 104915354 104915354 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 104915354 104915354 A G SNP CARD16 ENST00000375706 human ensembl 74_37 -1 known silent c.39 p.F13 0.021 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD16 HGNC ENSG00000204397 760 0 0 455 108 19.1829 GRIA4 0 genome.wustl.edu 37 11 105758275 105758275 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 105758275 105758275 T C SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.703 p.Y235H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 163 0 0 138 25 15.3374 GRIA4 0 genome.wustl.edu 37 11 105776013 105776013 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 105776013 105776013 A G SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.1144 p.T382A 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 78 0 0 45 14 23.7288 GUCY1A2 0 genome.wustl.edu 37 11 106579349 106579349 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 106579349 106579349 A G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.1973 p.V658A 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 46 0 0 37 4 9.7561 GUCY1A2 0 genome.wustl.edu 37 11 106810451 106810451 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 106810451 106810451 G A SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.941 p.A314V 0.001 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 91 0 0 73 15 17.0455 CWF19L2 0 genome.wustl.edu 37 11 107299652 107299652 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 107299652 107299652 A G SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.1306 p.S436P 0.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 521 1 0.191571 407 85 17.2764 ELMOD1 0 genome.wustl.edu 37 11 107535915 107535915 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 107535915 107535915 A G SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known missense c.997 p.N333D 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 259 0 0 163 42 20.4878 CUL5 0 genome.wustl.edu 37 11 107965548 107965548 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 107965548 107965548 T C SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.1577 p.V526A 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 133 0 0 67 12 15.1899 ACAT1 0 genome.wustl.edu 37 11 108017014 108017014 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108017014 108017014 T C SNP ACAT1 ENST00000265838 human ensembl 74_37 +1 known missense c.1091 p.I364T 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 285 0 0 201 51 20.2381 MUC2 0 genome.wustl.edu 37 11 1081139 1081139 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 1081139 1081139 A G SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.1435 p.T479A 0.279 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 50 0 0 29 5 14.7059 ATM 0 genome.wustl.edu 37 11 108159816 108159816 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108159816 108159816 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4222 p.L1408F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 95 0 0 100 17 14.5299 ATM 0 genome.wustl.edu 37 11 108202676 108202676 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108202676 108202676 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.7700 p.N2567S 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 168 0 0 116 22 15.942 ATM 0 genome.wustl.edu 37 11 108236086 108236086 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108236086 108236086 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.9022 p.R3008C 1.000 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 171 0 0 120 24 16.6667 KDELC2 0 genome.wustl.edu 37 11 108345539 108345539 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108345539 108345539 T C SNP KDELC2 ENST00000532730 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors KDELC2 HGNC ENSG00000178202 192 0 0 112 39 25.8278 EXPH5 0 genome.wustl.edu 37 11 108382343 108382343 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108382343 108382343 T C SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.3891 p.K1297 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 211 0 0 134 27 16.7702 EXPH5 0 genome.wustl.edu 37 11 108389088 108389088 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108389088 108389088 A G SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.505 p.Y169H 0.320 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 110 0 0 72 17 19.1011 PPP2R1B 0 genome.wustl.edu 37 11 111612842 111612842 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 111612842 111612842 A G SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.1724 p.V575A 0.998 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 194 0 0 174 32 15.534 PPP2R1B 0 genome.wustl.edu 37 11 111625257 111625257 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 111625257 111625257 G C SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.995 p.T332S 0.993 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 110 0 0 80 7 8.04598 C11orf57 0 genome.wustl.edu 37 11 111953431 111953431 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 111953431 111953431 G A SNP C11orf57 ENST00000393047 human ensembl 74_37 +1 known missense c.617 p.R206H 0.991 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 152 0 0 105 25 19.2308 ATF4P4 0 genome.wustl.edu 37 11 113659978 113659978 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 113659978 113659978 C T SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.437 - - - no_errors ATF4P4 HGNC ENSG00000256167 24 0 0 15 7 31.8182 USP28 0 genome.wustl.edu 37 11 113672318 113672318 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 113672318 113672318 A G SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.2945 p.L982P 0.716 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 150 0 0 107 22 17.0543 USP28 0 genome.wustl.edu 37 11 113684655 113684655 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 113684655 113684655 A G SNP USP28 ENST00000003302 human ensembl 74_37 -1 known silent c.1695 p.S565 0.035 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 93 0 0 71 10 12.3457 USP28 0 genome.wustl.edu 37 11 113694409 113694409 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 113694409 113694409 T A SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.1201 p.S401C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 115 0 0 72 16 18.1818 APOA1 0 genome.wustl.edu 37 11 116708093 116708093 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 116708093 116708093 G A SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.11 p.A4V 0.001 NULL pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 9 0 0 2 2 50 SIK3 0 genome.wustl.edu 37 11 116717117 116717117 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 116717117 116717117 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.3961 p.V1321M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 197 0 0 156 29 15.6757 SIK3 0 genome.wustl.edu 37 11 116719861 116719861 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 116719861 116719861 G A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.3650 p.T1217M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 93 0 0 68 15 18.0723 TAGLN 0 genome.wustl.edu 37 11 117073798 117073798 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 117073798 117073798 C T SNP TAGLN ENST00000392951 human ensembl 74_37 +1 known silent c.69 p.D23 0.969 superfamily_CH-domain,prints_SM22_calponin pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN HGNC ENSG00000149591 39 0 0 33 13 28.2609 PCSK7 0 genome.wustl.edu 37 11 117098958 117098958 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 117098958 117098958 T C SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.577 p.T193A 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 19 0 0 23 6 20.6897 PCSK7 0 genome.wustl.edu 37 11 117100293 117100293 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 117100293 117100293 C T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.268 p.G90R 1.000 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 88 0 0 61 18 22.7848 BACE1 0 genome.wustl.edu 37 11 117165972 117165972 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 117165972 117165972 T C SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known missense c.442 p.I148V 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 146 0 0 86 20 18.8679 DSCAML1 0 genome.wustl.edu 37 11 117301513 117301513 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 117301513 117301513 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.5791 p.A1931T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 278 0 0 208 46 18.1102 DSCAML1 0 genome.wustl.edu 37 11 117391895 117391895 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 117391895 117391895 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1343 p.A448V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 189 0 0 114 32 21.9178 MPZL2 0 genome.wustl.edu 37 11 118133782 118133782 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118133782 118133782 T C SNP MPZL2 ENST00000438295 human ensembl 74_37 -1 known missense c.89 p.Y30C 1.000 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 362 0 0 249 53 17.5497 KMT2A 0 genome.wustl.edu 37 11 118359442 118359442 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118359442 118359442 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.4446 p.C1482 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 111 0 0 82 18 18 KMT2A 0 genome.wustl.edu 37 11 118374582 118374582 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118374582 118374582 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known nonsense c.7966 p.R2656* 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 81 0 0 54 12 18.1818 ARCN1 0 genome.wustl.edu 37 11 118454616 118454616 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118454616 118454616 A G SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known silent c.540 p.A180 1.000 NULL pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 149 0 0 92 20 17.8571 PHLDB1 0 genome.wustl.edu 37 11 118514810 118514810 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118514810 118514810 T C SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.3039 p.N1013 0.995 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 32 0 0 36 5 12.1951 BCL9L 0 genome.wustl.edu 37 11 118772844 118772844 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118772844 118772844 T C SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.1608 p.E536 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 110 0 0 81 20 19.802 SLC37A4 0 genome.wustl.edu 37 11 118895642 118895642 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118895642 118895642 C T SNP SLC37A4 ENST00000357590 human ensembl 74_37 -1 known missense c.1334 p.R445Q 0.974 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar_P_transporter - no_errors SLC37A4 HGNC ENSG00000137700 28 0 0 24 7 22.5806 NLRX1 0 genome.wustl.edu 37 11 119044607 119044607 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 119044607 119044607 G A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.649 p.A217T 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 57 0 0 43 14 24.5614 NLRX1 0 genome.wustl.edu 37 11 119045201 119045201 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 119045201 119045201 C T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.889 p.R297C 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 332 0 0 216 64 22.8571 USP47 0 genome.wustl.edu 37 11 11927031 11927031 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 11927031 11927031 A G SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.965 p.D322G 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 84 0 0 67 20 22.9885 PVRL1 0 genome.wustl.edu 37 11 119547833 119547833 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 119547833 119547833 G A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known missense c.830 p.A277V 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 79 0 0 46 21 31.3433 POU2F3 0 genome.wustl.edu 37 11 120175765 120175765 + Silent SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 120175765 120175765 A T SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known silent c.477 p.G159 0.768 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 176 0 0 114 27 19.1489 TECTA 0 genome.wustl.edu 37 11 120996338 120996338 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 120996338 120996338 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.1531 p.D511N 0.997 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 165 0 0 118 25 17.4825 CRTAM 0 genome.wustl.edu 37 11 122722513 122722513 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 122722513 122722513 C T SNP CRTAM ENST00000227348 human ensembl 74_37 +1 known silent c.306 p.S102 0.024 pfam_Ig_V-set,smart_Ig_sub pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CRTAM HGNC ENSG00000109943 134 0 0 100 24 19.3548 SCN3B 0 genome.wustl.edu 37 11 123508962 123508962 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 123508962 123508962 C A SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known missense c.516 p.W172C 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN3B HGNC ENSG00000166257 88 0 0 75 15 16.6667 OR8B2 0 genome.wustl.edu 37 11 124252768 124252768 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 124252768 124252768 C T SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known missense c.472 p.A158T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 27 0 0 26 13 33.3333 TBRG1 0 genome.wustl.edu 37 11 124496881 124496881 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 124496881 124496881 A C SNP TBRG1 ENST00000441174 human ensembl 74_37 +1 known missense c.673 p.M225L 1.000 pfam_FYrich_N,smart_FYrich_N pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC ENSG00000154144 16 0 0 13 3 18.75 ROBO4 0 genome.wustl.edu 37 11 124757724 124757724 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 124757724 124757724 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.1961 p.A654V 0.981 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 65 0 0 45 11 19.6429 PKNOX2 0 genome.wustl.edu 37 11 125298986 125298986 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 125298986 125298986 T C SNP PKNOX2 ENST00000298282 human ensembl 74_37 +1 known splice_site c.1013+2 e8+2 1.000 - - - no_errors PKNOX2 HGNC ENSG00000165495 60 0 0 62 14 18.4211 PARVA 0 genome.wustl.edu 37 11 12530142 12530142 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 12530142 12530142 A G SNP PARVA ENST00000334956 human ensembl 74_37 +1 known silent c.789 p.G263 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVA HGNC ENSG00000197702 144 0 0 103 24 18.8976 MUC5B 0 genome.wustl.edu 37 11 1258211 1258211 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 1258211 1258211 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.3123 p.A1041 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 25 0 0 8 3 27.2727 FOXRED1 0 genome.wustl.edu 37 11 126141443 126141443 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 126141443 126141443 T C SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known missense c.197 p.V66A 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 136 1 0.729927 115 30 20.6897 KIRREL3 0 genome.wustl.edu 37 11 126343330 126343330 + Silent SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 126343330 126343330 G C SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.465 p.G155 0.989 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 19 0 0 3 3 50 TP53AIP1 0 genome.wustl.edu 37 11 128805564 128805564 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 128805564 128805564 T A SNP TP53AIP1 ENST00000531399 human ensembl 74_37 -1 known silent c.297 p.T99 0.000 NULL NULL - no_errors TP53AIP1 HGNC ENSG00000120471 13 0 0 19 5 20.8333 TMEM45B 0 genome.wustl.edu 37 11 129724713 129724713 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 129724713 129724713 T C SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known splice_site c.385+2 e2+2 0.998 - - - no_errors TMEM45B HGNC ENSG00000151715 90 0 0 52 19 26.7606 ST14 0 genome.wustl.edu 37 11 130079714 130079714 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 130079714 130079714 T C SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.2564 p.V855A 1.000 pirsf_Peptidase_S1A_matripase pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 74 0 0 47 11 18.9655 ADAMTS15 0 genome.wustl.edu 37 11 130331434 130331434 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 130331434 130331434 T C SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known silent c.1008 p.G336 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 149 0 0 97 21 17.7966 SNX19 0 genome.wustl.edu 37 11 130784707 130784707 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 130784707 130784707 C T SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known silent c.1128 p.P376 0.001 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 95 0 0 64 12 15.7895 IGSF9B 0 genome.wustl.edu 37 11 133806051 133806051 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 133806051 133806051 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.718 p.V240I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 24 0 0 19 8 29.6296 B3GAT1 0 genome.wustl.edu 37 11 134253954 134253954 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 134253954 134253954 C T SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.280 p.D94N 0.999 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 15 0 0 14 5 26.3158 RRAS2 0 genome.wustl.edu 37 11 14316397 14316397 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 14316397 14316397 C T SNP RRAS2 ENST00000545643 human ensembl 74_37 -1 known missense c.226 p.A76T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS2 HGNC ENSG00000133818 221 1 0.45045 146 42 22.3404 COPB1 0 genome.wustl.edu 37 11 14486521 14486521 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 14486521 14486521 G A SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.2346 p.F782 1.000 pfam_Coatomer_bsu_C,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 110 0 0 69 13 15.8537 COPB1 0 genome.wustl.edu 37 11 14515965 14515965 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 14515965 14515965 T A SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known nonsense c.112 p.K38* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 176 0 0 105 17 13.9344 PDE3B 0 genome.wustl.edu 37 11 14839924 14839924 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 14839924 14839924 G A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.1718 p.S573N 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 114 0 0 71 10 12.3457 CYP2R1 0 genome.wustl.edu 37 11 14913534 14913534 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 14913534 14913534 T C SNP CYP2R1 ENST00000334636 human ensembl 74_37 -1 known missense c.218 p.Y73C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2R1 HGNC ENSG00000186104 25 0 0 19 5 20.8333 DUSP8 0 genome.wustl.edu 37 11 1579347 1579347 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 1579347 1579347 A G SNP DUSP8 ENST00000331588 human ensembl 74_37 -1 known missense c.692 p.F231S 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP8 HGNC ENSG00000184545 292 0 0 185 41 18.1416 KCNJ11 0 genome.wustl.edu 37 11 17409176 17409176 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 17409176 17409176 C T SNP KCNJ11 ENST00000339994 human ensembl 74_37 -1 known missense c.463 p.V155M 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 43 0 0 35 8 18.6047 USH1C 0 genome.wustl.edu 37 11 17531325 17531325 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 17531325 17531325 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1591 p.R531C 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 33 0 0 30 4 11.7647 USH1C 0 genome.wustl.edu 37 11 17531971 17531971 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 17531971 17531971 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1511 p.A504V 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 49 0 0 30 5 14.2857 SPTY2D1 0 genome.wustl.edu 37 11 18636367 18636367 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 18636367 18636367 G C SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.1454 p.P485R 0.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 73 0 0 60 6 9.09091 NAV2 0 genome.wustl.edu 37 11 20122663 20122663 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 20122663 20122663 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.6539 p.R2180Q 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 136 0 0 85 18 17.4757 H19 0 genome.wustl.edu 37 11 2018055 2018055 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 2018055 2018055 C T SNP H19 ENST00000390168 human ensembl 74_37 -1 known rna NULL NULL 0.314 - - - no_errors H19 HGNC ENSG00000130600 8 0 0 2 2 50 SLC6A5 0 genome.wustl.edu 37 11 20629055 20629055 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 20629055 20629055 T C SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.842 p.V281A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 487 1 0.204918 371 74 16.6292 TSSC4 0 genome.wustl.edu 37 11 2424791 2424791 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 2424791 2424791 C T SNP TSSC4 ENST00000333256 human ensembl 74_37 +1 known missense c.928 p.R310W 1.000 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 29 0 0 16 2 11.1111 MUC15 0 genome.wustl.edu 37 11 26587159 26587159 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 26587159 26587159 C T SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.328 p.G110R 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 176 0 0 118 31 20.8054 KCNQ1OT1 0 genome.wustl.edu 37 11 2683443 2683443 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 2683443 2683443 C T SNP KCNQ1OT1 ENST00000597346 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors KCNQ1OT1 HGNC ENSG00000269821 31 0 0 17 6 26.087 FIBIN 0 genome.wustl.edu 37 11 27016599 27016599 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 27016599 27016599 A G SNP FIBIN ENST00000318627 human ensembl 74_37 +1 known missense c.526 p.T176A 1.000 NULL NULL - no_errors FIBIN HGNC ENSG00000176971 133 0 0 100 26 20.6349 BBOX1 0 genome.wustl.edu 37 11 27141369 27141369 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 27141369 27141369 A G SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known silent c.813 p.V271 0.992 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 145 0 0 90 29 24.3697 NLRP6 0 genome.wustl.edu 37 11 281524 281524 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 281524 281524 C G SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known missense c.1790 p.A597G 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 119 0 0 74 24 24.4898 KCNA4 0 genome.wustl.edu 37 11 30032677 30032677 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 30032677 30032677 A G SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.1549 p.W517R 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 143 0 0 85 16 15.8416 DCDC1 0 genome.wustl.edu 37 11 31312290 31312290 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 31312290 31312290 T C SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known silent c.864 p.K288 0.994 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 167 0 0 94 33 25.9843 OSBPL5 0 genome.wustl.edu 37 11 3141762 3141762 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 3141762 3141762 C A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.495 p.W165C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 97 0 0 73 13 15.1163 PAX6 0 genome.wustl.edu 37 11 31824298 31824298 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 31824298 31824298 A G SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.95 p.L32P 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 22 0 0 24 3 11.1111 RCN1 0 genome.wustl.edu 37 11 32118854 32118854 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 32118854 32118854 A G SNP RCN1 ENST00000054950 human ensembl 74_37 +1 known missense c.419 p.Y140C 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN1 HGNC ENSG00000049449 56 0 0 35 7 16.6667 CCDC73 0 genome.wustl.edu 37 11 32635338 32635338 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 32635338 32635338 A G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known silent c.2526 p.N842 0.143 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 355 0 0 274 69 20.1166 FBXO3 0 genome.wustl.edu 37 11 33780074 33780074 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 33780074 33780074 A G SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known silent c.432 p.C144 0.993 superfamily_F-box_dom,smart_SMI1/KNR4_like_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 149 0 0 97 17 14.9123 TSSC2 0 genome.wustl.edu 37 11 3423918 3423918 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 3423918 3423918 G A SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TSSC2 HGNC ENSG00000223756 25 0 0 14 3 17.6471 EHF 0 genome.wustl.edu 37 11 34680429 34680429 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 34680429 34680429 T C SNP EHF ENST00000257831 human ensembl 74_37 +1 known missense c.854 p.V285A 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 82 0 0 53 22 29.3333 PDHX 0 genome.wustl.edu 37 11 34991757 34991757 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 34991757 34991757 T C SNP PDHX ENST00000227868 human ensembl 74_37 +1 known silent c.888 p.S296 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 135 0 0 86 14 14 NUP98 0 genome.wustl.edu 37 11 3744545 3744545 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 3744545 3744545 T C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.1988 p.N663S 0.005 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 108 0 0 109 23 17.4242 RRM1 0 genome.wustl.edu 37 11 4150330 4150330 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4150330 4150330 T C SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known silent c.1719 p.V573 0.993 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 165 0 0 156 43 21.608 RRM1 0 genome.wustl.edu 37 11 4159522 4159522 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4159522 4159522 T C SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known missense c.2288 p.V763A 0.019 NULL pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 106 0 0 58 12 17.1429 TTC17 0 genome.wustl.edu 37 11 43427103 43427103 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 43427103 43427103 A G SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.1519 p.T507A 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 414 0 0 228 40 14.9254 ACCSL 0 genome.wustl.edu 37 11 44072889 44072889 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 44072889 44072889 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.640 p.R214W 0.433 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 200 0 0 134 25 15.7233 OR52K2 0 genome.wustl.edu 37 11 4471390 4471390 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4471390 4471390 T C SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known missense c.821 p.V274A 0.917 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 348 0 0 215 68 24.0283 OR52K1 0 genome.wustl.edu 37 11 4510299 4510299 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4510299 4510299 C A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.169 p.L57I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 260 0 0 153 50 24.6305 CHST1 0 genome.wustl.edu 37 11 45671419 45671419 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 45671419 45671419 T C SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.1055 p.N352S 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 111 0 0 91 24 20.8696 GYLTL1B 0 genome.wustl.edu 37 11 45947887 45947887 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 45947887 45947887 T C SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known missense c.997 p.S333P 0.772 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 135 0 0 99 18 15.3846 PHF21A 0 genome.wustl.edu 37 11 45992799 45992799 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 45992799 45992799 G A SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known silent c.480 p.T160 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 126 0 0 108 29 21.1679 AMBRA1 0 genome.wustl.edu 37 11 46564329 46564329 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 46564329 46564329 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.1238 p.G413V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 164 0 0 108 22 16.9231 ZNF408 0 genome.wustl.edu 37 11 46727107 46727107 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 46727107 46727107 G A SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known silent c.1857 p.P619 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 95 0 0 52 18 25.7143 F2 0 genome.wustl.edu 37 11 46747671 46747671 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 46747671 46747671 C T SNP F2 ENST00000311907 human ensembl 74_37 +1 known silent c.822 p.C274 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 175 0 0 120 27 18.3673 F2 0 genome.wustl.edu 37 11 46747718 46747718 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 46747718 46747718 A G SNP F2 ENST00000311907 human ensembl 74_37 +1 known missense c.869 p.Y290C 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 114 0 0 89 19 17.5926 CKAP5 0 genome.wustl.edu 37 11 46765729 46765729 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 46765729 46765729 T C SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.5964 p.K1988 0.999 NULL pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 108 0 0 63 20 24.0964 LRP4 0 genome.wustl.edu 37 11 46914603 46914603 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 46914603 46914603 G T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.1618 p.L540M 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 51 0 0 34 10 22.7273 OR51E2 0 genome.wustl.edu 37 11 4702990 4702990 + Nonsense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4702990 4702990 C A SNP OR51E2 ENST00000396950 human ensembl 74_37 -1 known nonsense c.952 p.G318* 0.808 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 162 0 0 93 19 16.9643 PACSIN3 0 genome.wustl.edu 37 11 47203980 47203980 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 47203980 47203980 C T SNP PACSIN3 ENST00000298838 human ensembl 74_37 -1 known missense c.185 p.R62Q 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC ENSG00000165912 98 0 0 67 18 21.1765 SLC39A13 0 genome.wustl.edu 37 11 47436421 47436421 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 47436421 47436421 G A SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known missense c.880 p.A294T 0.996 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 140 0 0 116 30 20.5479 NUP160 0 genome.wustl.edu 37 11 47837550 47837550 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 47837550 47837550 T G SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.1463 p.D488A 1.000 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 107 0 0 76 16 17.3913 OR51F1 0 genome.wustl.edu 37 11 4790303 4790303 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4790303 4790303 T C SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.866 p.Y289C 0.203 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 161 0 0 106 32 23.1884 PTPRJ 0 genome.wustl.edu 37 11 48152056 48152056 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 48152056 48152056 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1403 p.T468M 0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 84 0 0 66 11 14.2857 OR4C3 0 genome.wustl.edu 37 11 48347301 48347301 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 48347301 48347301 T C SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.809 p.I270T 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 388 0 0 282 51 15.3153 OR51T1 0 genome.wustl.edu 37 11 4903765 4903765 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4903765 4903765 C T SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known silent c.717 p.D239 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 196 0 0 137 35 20.3488 FOLH1 0 genome.wustl.edu 37 11 49197411 49197411 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 49197411 49197411 T C SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.1019 p.Q340R 0.998 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 181 0 0 93 25 21.1864 OR51G1 0 genome.wustl.edu 37 11 4945549 4945549 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4945549 4945549 G A SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.21 p.S7 0.071 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 96 0 0 70 18 20.4545 OR51A4 0 genome.wustl.edu 37 11 4967443 4967443 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4967443 4967443 T C SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known silent c.888 p.K296 0.210 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 318 0 0 176 47 21.0762 OR51A4 0 genome.wustl.edu 37 11 4967610 4967610 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4967610 4967610 T C SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.721 p.T241A 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 169 0 0 107 25 18.9394 OR51A4 0 genome.wustl.edu 37 11 4967644 4967644 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 4967644 4967644 A G SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known silent c.687 p.I229 0.786 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 161 0 0 115 30 20.6897 RNH1 0 genome.wustl.edu 37 11 498027 498027 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 498027 498027 G A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known silent c.1071 p.G357 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 144 0 0 89 20 18.3486 OR4C46 0 genome.wustl.edu 37 11 51515506 51515506 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 51515506 51515506 T C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known silent c.225 p.N75 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 417 0 0 288 85 22.7882 HBD 0 genome.wustl.edu 37 11 5255572 5255572 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 5255572 5255572 C T SNP HBD ENST00000380299 human ensembl 74_37 -1 known missense c.92 p.R31K 1.000 pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 150 0 0 118 25 17.4825 OR51B6 0 genome.wustl.edu 37 11 5373179 5373179 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 5373179 5373179 A G SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.442 p.T148A 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 233 0 0 155 41 20.9184 OR51M1 0 genome.wustl.edu 37 11 5411261 5411261 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 5411261 5411261 A G SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known silent c.633 p.G211 0.147 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 181 0 0 151 27 15.1685 OR4A15 0 genome.wustl.edu 37 11 55135662 55135662 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55135662 55135662 T C SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known silent c.303 p.Y101 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 419 0 0 251 41 14.0411 OR4C16 0 genome.wustl.edu 37 11 55339775 55339775 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55339775 55339775 T G SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.172 p.F58V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 400 0 0 237 67 22.0395 OR4C11 0 genome.wustl.edu 37 11 55371683 55371683 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55371683 55371683 G T SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.167 p.P56H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 192 0 0 145 27 15.6977 OR5W2 0 genome.wustl.edu 37 11 55681578 55681578 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55681578 55681578 T C SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.481 p.T161A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 146 0 0 123 24 16.3265 OR5AS1 0 genome.wustl.edu 37 11 55798339 55798339 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55798339 55798339 T C SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.445 p.Y149H 0.415 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 357 0 0 260 65 20 OR8I2 0 genome.wustl.edu 37 11 55861664 55861664 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55861664 55861664 A G SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.881 p.K294R 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 78 0 0 62 13 17.3333 OR8H3 0 genome.wustl.edu 37 11 55890420 55890420 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55890420 55890420 A G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.572 p.D191G 0.875 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 478 0 0 353 76 17.7156 OR8J3 0 genome.wustl.edu 37 11 55904915 55904915 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55904915 55904915 A T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.280 p.F94I 0.083 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 250 0 0 199 36 15.3191 OR5J2 0 genome.wustl.edu 37 11 55944776 55944776 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55944776 55944776 T G SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.683 p.I228S 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 184 1 0.540541 161 42 20.6897 OR5T1 0 genome.wustl.edu 37 11 56043602 56043602 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 56043602 56043602 C T SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.488 p.A163V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 482 0 0 357 76 17.552 OR8J1 0 genome.wustl.edu 37 11 56128242 56128242 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 56128242 56128242 A G SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.520 p.I174V 0.554 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 156 0 0 134 8 5.6338 OR8J1 0 genome.wustl.edu 37 11 56128506 56128506 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 56128506 56128506 C G SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.784 p.P262A 0.759 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 326 0 0 194 44 18.4874 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5625792 5625792 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 5625792 5625792 T G SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.536 p.L179R 0.991 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 249 0 0 133 38 22.2222 RASSF7 0 genome.wustl.edu 37 11 563560 563560 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 563560 563560 G A SNP RASSF7 ENST00000454668 human ensembl 74_37 +1 known nonsense c.954 p.W318* 0.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 35 0 0 20 6 23.0769 APLNR 0 genome.wustl.edu 37 11 57003976 57003976 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57003976 57003976 C T SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.503 p.R168H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 41 0 0 47 11 18.9655 APLNR 0 genome.wustl.edu 37 11 57004036 57004036 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57004036 57004036 A G SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.443 p.V148A 0.983 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 24 0 0 21 4 16 SLC43A3 0 genome.wustl.edu 37 11 57182546 57182546 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57182546 57182546 C T SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known missense c.803 p.R268H 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 140 0 0 87 29 25 UBE2L6 0 genome.wustl.edu 37 11 57319863 57319863 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57319863 57319863 T C SNP UBE2L6 ENST00000287156 human ensembl 74_37 -1 known missense c.430 p.T144A 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2L6 HGNC ENSG00000156587 269 0 0 213 26 10.8787 CLP1 0 genome.wustl.edu 37 11 57428563 57428563 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57428563 57428563 T C SNP CLP1 ENST00000525602 human ensembl 74_37 +1 known silent c.933 p.C311 1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors CLP1 HGNC ENSG00000172409 307 0 0 220 54 19.708 ZDHHC5 0 genome.wustl.edu 37 11 57466793 57466793 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57466793 57466793 C A SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.1885 p.P629T 0.999 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 198 0 0 127 29 18.5897 CTNND1 0 genome.wustl.edu 37 11 57564331 57564331 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57564331 57564331 T C SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.823 p.F275L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 359 0 0 251 55 17.9739 OR9I1 0 genome.wustl.edu 37 11 57886082 57886082 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57886082 57886082 T C SNP OR9I1 ENST00000302610 human ensembl 74_37 -1 known missense c.835 p.T279A 0.139 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR9I1 HGNC ENSG00000172377 225 1 0.442478 158 43 21.393 OR9Q2 0 genome.wustl.edu 37 11 57958080 57958080 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57958080 57958080 T C SNP OR9Q2 ENST00000311591 human ensembl 74_37 +1 known silent c.118 p.L40 0.015 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q2 HGNC ENSG00000186513 92 0 0 60 22 26.8293 OR52N5 0 genome.wustl.edu 37 11 5799138 5799138 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 5799138 5799138 G A SNP OR52N5 ENST00000317093 human ensembl 74_37 -1 known missense c.727 p.R243W 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 125 0 0 94 17 15.3153 OR10Q1 0 genome.wustl.edu 37 11 57995544 57995544 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57995544 57995544 C T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known silent c.804 p.R268 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 52 0 0 48 9 15.7895 OR52N1 0 genome.wustl.edu 37 11 5810021 5810021 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 5810021 5810021 A G SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.26 p.L9P 0.028 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 142 0 0 114 23 16.7883 OR5B3 0 genome.wustl.edu 37 11 58170499 58170499 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 58170499 58170499 T A SNP OR5B3 ENST00000309403 human ensembl 74_37 -1 known silent c.384 p.L128 0.051 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 173 1 0.574713 132 31 19.0184 OR5B2 0 genome.wustl.edu 37 11 58190667 58190667 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 58190667 58190667 A C SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.68 p.I23S 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 192 0 0 130 28 17.7215 OR4D9 0 genome.wustl.edu 37 11 59283042 59283042 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 59283042 59283042 G A SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known silent c.657 p.T219 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 356 1 0.280112 246 50 16.8919 PATL1 0 genome.wustl.edu 37 11 59424057 59424057 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 59424057 59424057 G T SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.638 p.P213H 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 60 0 0 39 7 15.2174 PATL1 0 genome.wustl.edu 37 11 59425039 59425039 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 59425039 59425039 T C SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known silent c.585 p.P195 0.997 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 156 0 0 115 23 16.6667 MRPL16 0 genome.wustl.edu 37 11 59574011 59574011 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 59574011 59574011 C T SNP MRPL16 ENST00000300151 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 182 0 0 154 43 21.8274 PHRF1 0 genome.wustl.edu 37 11 605153 605153 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 605153 605153 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.1187 p.T396M 0.626 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 64 0 0 39 13 25 MS4A10 0 genome.wustl.edu 37 11 60557963 60557963 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 60557963 60557963 A G SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known missense c.155 p.K52R 0.001 NULL pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 113 0 0 68 15 18.0723 TMEM109 0 genome.wustl.edu 37 11 60689377 60689377 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 60689377 60689377 C T SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.472 p.R158W 0.997 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 172 0 0 116 18 13.4328 DAK 0 genome.wustl.edu 37 11 61106890 61106890 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 61106890 61106890 A C SNP DAK ENST00000394900 human ensembl 74_37 +1 known missense c.469 p.T157P 1.000 pfam_Dak1,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 85 0 0 49 13 20.9677 DAK 0 genome.wustl.edu 37 11 61111397 61111397 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 61111397 61111397 G A SNP DAK ENST00000394900 human ensembl 74_37 +1 known missense c.1052 p.R351Q 0.997 tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 94 0 0 77 21 21.4286 DAGLA 0 genome.wustl.edu 37 11 61511005 61511005 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 61511005 61511005 A G SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.2173 p.S725G 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 415 0 0 276 49 15.0769 RAB3IL1 0 genome.wustl.edu 37 11 61675578 61675578 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 61675578 61675578 A T SNP RAB3IL1 ENST00000394836 human ensembl 74_37 -1 known missense c.212 p.I71N 1.000 NULL pfam_Sec2p - no_errors RAB3IL1 HGNC ENSG00000167994 40 0 0 35 7 16.6667 AHNAK 0 genome.wustl.edu 37 11 62285758 62285758 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62285758 62285758 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.16131 p.S5377 0.989 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 171 0 0 128 31 19.4969 AHNAK 0 genome.wustl.edu 37 11 62297276 62297276 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62297276 62297276 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.4613 p.D1538G 0.042 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 496 1 0.201207 319 91 22.1951 AHNAK 0 genome.wustl.edu 37 11 62299953 62299953 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62299953 62299953 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.1936 p.P646S 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 296 0 0 216 47 17.8707 C11orf42 0 genome.wustl.edu 37 11 6232207 6232207 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6232207 6232207 G A SNP C11orf42 ENST00000316375 human ensembl 74_37 +1 known missense c.937 p.D313N 1.000 NULL NULL - no_errors C11orf42 HGNC ENSG00000180878 32 0 0 32 6 15.7895 TUT1 0 genome.wustl.edu 37 11 62342880 62342880 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62342880 62342880 A G SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.2425 p.W809R 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 82 0 0 80 31 27.9279 MTA2 0 genome.wustl.edu 37 11 62364226 62364226 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62364226 62364226 C A SNP MTA2 ENST00000278823 human ensembl 74_37 -1 known missense c.765 p.Q255H 1.000 pfscan_ELM2_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 113 0 0 103 13 11.2069 GANAB 0 genome.wustl.edu 37 11 62397917 62397917 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62397917 62397917 G T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.1513 p.L505M 0.990 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 153 0 0 98 34 25.7576 INTS5 0 genome.wustl.edu 37 11 62417003 62417003 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62417003 62417003 A G SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.549 p.C183 0.995 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 68 0 0 40 10 20 C11orf83 0 genome.wustl.edu 37 11 62439509 62439509 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62439509 62439509 A G SNP C11orf83 ENST00000377953 human ensembl 74_37 +1 known missense c.205 p.T69A 0.999 NULL NULL - no_errors C11orf83 HGNC ENSG00000204922 29 0 0 15 4 21.0526 FAM160A2 0 genome.wustl.edu 37 11 6244318 6244318 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6244318 6244318 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.928 p.V310I 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 295 0 0 213 47 18.0769 UBXN1 0 genome.wustl.edu 37 11 62446168 62446168 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62446168 62446168 A G SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known missense c.107 p.M36T 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 28 0 0 13 7 35 CNGA4 0 genome.wustl.edu 37 11 6261527 6261527 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6261527 6261527 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.503 p.R168H 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 178 0 0 138 45 24.5902 CCKBR 0 genome.wustl.edu 37 11 6292348 6292348 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6292348 6292348 A G SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1126 p.T376A 0.602 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 83 0 0 58 20 25.641 SLC22A25 0 genome.wustl.edu 37 11 62931516 62931516 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62931516 62931516 A G SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known missense c.1424 p.F475S 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 304 1 0.327869 183 51 21.7949 RTN3 0 genome.wustl.edu 37 11 63487482 63487482 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 63487482 63487482 C T SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.1508 p.T503I 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 132 0 0 99 20 16.8067 RCOR2 0 genome.wustl.edu 37 11 63681926 63681926 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 63681926 63681926 C T SNP RCOR2 ENST00000301459 human ensembl 74_37 -1 known missense c.568 p.A190T 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 166 0 0 128 21 14.094 FLRT1 0 genome.wustl.edu 37 11 63884888 63884888 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 63884888 63884888 G A SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known silent c.1149 p.P383 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 40 0 0 36 10 21.7391 STIP1 0 genome.wustl.edu 37 11 63965054 63965054 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 63965054 63965054 C T SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known nonsense c.889 p.R297* 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 57 0 0 24 9 27.2727 CCDC88B 0 genome.wustl.edu 37 11 64120560 64120560 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64120560 64120560 C T SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.3535 p.R1179W 1.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 16 0 0 6 3 33.3333 SLC22A12 0 genome.wustl.edu 37 11 64359294 64359294 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64359294 64359294 G A SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.266 p.R89H 0.779 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 36 0 0 19 7 26.9231 NRXN2 0 genome.wustl.edu 37 11 64398015 64398015 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64398015 64398015 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3616 p.V1206M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 86 0 0 49 18 26.8657 NRXN2 0 genome.wustl.edu 37 11 64419563 64419563 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64419563 64419563 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2480 p.R827K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 96 0 0 61 22 26.506 ATG2A 0 genome.wustl.edu 37 11 64677290 64677290 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64677290 64677290 T C SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1970 p.D657G 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 45 0 0 30 8 21.0526 GPHA2 0 genome.wustl.edu 37 11 64702546 64702546 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64702546 64702546 G A SNP GPHA2 ENST00000279168 human ensembl 74_37 -1 known missense c.205 p.R69W 0.992 pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone - no_errors GPHA2 HGNC ENSG00000149735 152 0 0 77 26 25.2427 SAC3D1 0 genome.wustl.edu 37 11 64811817 64811817 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64811817 64811817 T C SNP SAC3D1 ENST00000398846 human ensembl 74_37 +1 known missense c.695 p.F232S 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors SAC3D1 HGNC ENSG00000168061 169 0 0 100 12 10.7143 ZFPL1 0 genome.wustl.edu 37 11 64855573 64855573 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64855573 64855573 T C SNP ZFPL1 ENST00000294258 human ensembl 74_37 +1 known missense c.920 p.V307A 1.000 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 125 0 0 104 24 18.75 VPS51 0 genome.wustl.edu 37 11 64876190 64876190 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64876190 64876190 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.1247 p.A416V 0.521 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 21 0 0 18 4 18.1818 TM7SF2 0 genome.wustl.edu 37 11 64880808 64880808 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64880808 64880808 G A SNP TM7SF2 ENST00000279263 human ensembl 74_37 +1 known missense c.421 p.A141T 0.492 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC ENSG00000149809 117 0 0 81 24 22.8571 SPDYC 0 genome.wustl.edu 37 11 64940375 64940375 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 64940375 64940375 G A SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known missense c.737 p.R246H 0.000 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 182 0 0 132 36 21.4286 TIGD3 0 genome.wustl.edu 37 11 65123616 65123616 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65123616 65123616 A G SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.337 p.M113V 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 90 0 0 74 20 21.2766 SLC25A45 0 genome.wustl.edu 37 11 65143909 65143909 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65143909 65143909 C T SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known missense c.836 p.S279N 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 66 0 0 44 14 24.1379 MALAT1 0 genome.wustl.edu 37 11 65268497 65268497 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65268497 65268497 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 185 1 0.537634 108 27 20 MALAT1 0 genome.wustl.edu 37 11 65269794 65269794 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65269794 65269794 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 51 0 0 30 5 14.2857 MALAT1 0 genome.wustl.edu 37 11 65271405 65271405 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65271405 65271405 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 42 0 0 31 15 32.6087 EHBP1L1 0 genome.wustl.edu 37 11 65351025 65351025 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65351025 65351025 T C SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2882 p.V961A 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 36 0 0 25 11 30.5556 PCNXL3 0 genome.wustl.edu 37 11 65396413 65396413 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65396413 65396413 A G SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3935 p.D1312G 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 38 0 0 20 5 20 DNHD1 0 genome.wustl.edu 37 11 6540902 6540902 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6540902 6540902 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.1465 p.G489C 0.001 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 152 0 0 103 25 19.5312 OVOL1 0 genome.wustl.edu 37 11 65562117 65562117 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65562117 65562117 G A SNP OVOL1 ENST00000335987 human ensembl 74_37 +1 known missense c.427 p.V143I 0.887 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL1 HGNC ENSG00000172818 106 1 0.934579 95 29 23.3871 MUS81 0 genome.wustl.edu 37 11 65631108 65631108 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65631108 65631108 C T SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known missense c.877 p.R293W 1.000 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 27 0 0 24 3 11.1111 EFEMP2 0 genome.wustl.edu 37 11 65635808 65635808 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65635808 65635808 T C SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.932 p.D311G 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 35 0 0 32 5 13.5135 CTSW 0 genome.wustl.edu 37 11 65650552 65650552 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65650552 65650552 A G SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.758 p.Y253C 0.417 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 262 0 0 217 12 5.24017 SART1 0 genome.wustl.edu 37 11 65734962 65734962 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65734962 65734962 G A SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.1334 p.R445H 0.005 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 48 0 0 25 16 39.0244 SART1 0 genome.wustl.edu 37 11 65745360 65745360 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65745360 65745360 C T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.2162 p.T721I 0.810 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 13 0 0 11 4 26.6667 GAL3ST3 0 genome.wustl.edu 37 11 65810615 65810615 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65810615 65810615 T C SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.659 p.D220G 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 61 0 0 38 10 20.8333 GAL3ST3 0 genome.wustl.edu 37 11 65810616 65810616 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65810616 65810616 C T SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.658 p.D220N 0.998 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 60 0 0 38 10 20.8333 GAL3ST3 0 genome.wustl.edu 37 11 65811111 65811111 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65811111 65811111 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.163 p.R55W 0.991 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 34 0 0 23 8 25.8065 SF3B2 0 genome.wustl.edu 37 11 65829239 65829239 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 65829239 65829239 T C SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.1862 p.V621A 0.995 pfam_PSP,smart_PSP pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 71 0 0 58 13 18.3099 DNHD1 0 genome.wustl.edu 37 11 6592035 6592035 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6592035 6592035 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known silent c.13293 p.G4431 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 21 0 0 29 9 23.6842 CD248 0 genome.wustl.edu 37 11 66083132 66083132 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66083132 66083132 G A SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.1367 p.T456M 0.925 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 150 0 0 83 22 20.9524 CTSF 0 genome.wustl.edu 37 11 66335072 66335072 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66335072 66335072 C T SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.374 p.G125D 0.998 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 220 0 0 157 34 17.801 RBM14 0 genome.wustl.edu 37 11 66392441 66392441 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66392441 66392441 A G SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.1094 p.Y365C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 159 0 0 145 25 14.7059 RBM14 0 genome.wustl.edu 37 11 66393007 66393007 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66393007 66393007 C T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.1660 p.P554S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 48 0 0 42 9 17.6471 RBM4 0 genome.wustl.edu 37 11 66411167 66411167 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66411167 66411167 C T SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.659 p.A220V 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 84 0 0 64 18 21.9512 RBM4B 0 genome.wustl.edu 37 11 66436301 66436301 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66436301 66436301 C T SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known missense c.874 p.A292T 0.779 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 52 0 0 44 13 22.807 SPTBN2 0 genome.wustl.edu 37 11 66457681 66457681 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66457681 66457681 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5639 p.R1880H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 53 0 0 39 15 27.7778 SPTBN2 0 genome.wustl.edu 37 11 66468627 66468627 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 66468627 66468627 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.2943 p.I981 0.993 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 118 0 0 67 22 24.7191 DCHS1 0 genome.wustl.edu 37 11 6662222 6662222 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6662222 6662222 A G SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.623 p.V208A 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 148 0 0 118 27 18.6207 CARNS1 0 genome.wustl.edu 37 11 67191326 67191326 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 67191326 67191326 C T SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known nonsense c.2107 p.R703* 0.036 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 44 0 0 31 8 20.5128 CABP4 0 genome.wustl.edu 37 11 67223796 67223796 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 67223796 67223796 G A SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known missense c.424 p.D142N 0.999 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 124 0 0 71 28 28.2828 PITPNM1 0 genome.wustl.edu 37 11 67267701 67267701 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 67267701 67267701 C A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.832 p.A278S 0.074 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 89 0 0 65 19 22.619 TBX10 0 genome.wustl.edu 37 11 67399796 67399796 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 67399796 67399796 C T SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known silent c.861 p.R287 0.003 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 165 0 0 116 20 14.7059 ACY3 0 genome.wustl.edu 37 11 67410319 67410319 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 67410319 67410319 T C SNP ACY3 ENST00000255082 human ensembl 74_37 -1 known missense c.836 p.Y279C 0.862 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ACY3 HGNC ENSG00000132744 93 0 0 71 21 22.8261 OR2AG2 0 genome.wustl.edu 37 11 6789715 6789715 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6789715 6789715 T C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known silent c.474 p.G158 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 112 0 0 93 28 23.1405 C11orf24 0 genome.wustl.edu 37 11 68029961 68029961 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 68029961 68029961 C T SNP C11orf24 ENST00000304271 human ensembl 74_37 -1 known missense c.502 p.A168T 0.000 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 50 0 0 45 9 16.6667 LRP5 0 genome.wustl.edu 37 11 68192577 68192577 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 68192577 68192577 T C SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.3244 p.Y1082H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 55 0 0 42 4 8.69565 MTL5 0 genome.wustl.edu 37 11 68475936 68475936 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 68475936 68475936 A G SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.1367 p.V456A 1.000 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 67 0 0 57 14 19.7183 IGHMBP2 0 genome.wustl.edu 37 11 68678967 68678967 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 68678967 68678967 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.607 p.A203T 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 85 0 0 60 17 22.0779 IGHMBP2 0 genome.wustl.edu 37 11 68705747 68705747 + Silent SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 68705747 68705747 A C SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.2709 p.T903 0.957 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 79 0 0 48 14 22.5806 TPCN2 0 genome.wustl.edu 37 11 68846360 68846360 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 68846360 68846360 A T SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.1411 p.I471F 0.995 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 143 0 0 89 23 20.5357 OR2D3 0 genome.wustl.edu 37 11 6942479 6942479 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6942479 6942479 T C SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.247 p.S83P 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 358 0 0 235 59 20.068 ORAOV1 0 genome.wustl.edu 37 11 69486577 69486577 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 69486577 69486577 T C SNP ORAOV1 ENST00000279147 human ensembl 74_37 -1 known missense c.167 p.Y56C 0.990 pfam_Essential_protein_Yae1_N pfam_Essential_protein_Yae1_N - no_errors ORAOV1 HGNC ENSG00000149716 143 0 0 105 25 19.2308 ENSG00000246889 0 genome.wustl.edu 37 11 70220937 70220937 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 70220937 70220937 T C SNP ENSG00000246889 ENST00000500185 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000487.5 Clone_based_vega_gene ENSG00000246889 45 0 0 44 7 13.7255 SHANK2 0 genome.wustl.edu 37 11 70333642 70333642 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 70333642 70333642 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.2759 p.T920M 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 36 0 0 21 6 22.2222 NLRP14 0 genome.wustl.edu 37 11 7059912 7059912 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 7059912 7059912 T C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.95 p.L32S 0.019 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 215 0 0 133 52 28.1081 NUMA1 0 genome.wustl.edu 37 11 71726677 71726677 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 71726677 71726677 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known silent c.1872 p.L624 0.964 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 74 0 0 57 11 16.1765 INPPL1 0 genome.wustl.edu 37 11 71943988 71943988 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 71943988 71943988 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.1921 p.R641W 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 114 0 0 71 13 15.4762 PDE2A 0 genome.wustl.edu 37 11 72288519 72288519 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 72288519 72288519 G A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.2735 p.S912L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 96 0 0 78 15 16.129 ARAP1 0 genome.wustl.edu 37 11 72408664 72408664 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 72408664 72408664 A G SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.2768 p.L923P 1.000 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 181 0 0 121 25 17.1233 PAAF1 0 genome.wustl.edu 37 11 73638354 73638354 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 73638354 73638354 T C SNP PAAF1 ENST00000310571 human ensembl 74_37 +1 known missense c.1126 p.Y376H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 117 0 0 80 14 14.8936 UCP3 0 genome.wustl.edu 37 11 73716934 73716934 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 73716934 73716934 C T SNP UCP3 ENST00000314032 human ensembl 74_37 -1 known missense c.382 p.A128T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 52 0 0 45 10 18.1818 C2CD3 0 genome.wustl.edu 37 11 73824826 73824826 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 73824826 73824826 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.1842 p.G614 0.996 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 205 0 0 141 43 23.3696 XRRA1 0 genome.wustl.edu 37 11 74554950 74554950 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 74554950 74554950 C A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.2074 p.D692Y 0.970 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 41 0 0 25 5 16.6667 SLCO2B1 0 genome.wustl.edu 37 11 74911354 74911354 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 74911354 74911354 T C SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known missense c.1685 p.V562A 0.995 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 198 0 0 142 35 19.774 ACER3 0 genome.wustl.edu 37 11 76730809 76730809 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 76730809 76730809 C T SNP ACER3 ENST00000532485 human ensembl 74_37 +1 known missense c.739 p.P247S 1.000 pfam_Ceramidase pfam_Ceramidase - no_errors ACER3 HGNC ENSG00000078124 215 0 0 121 41 25.3086 AQP11 0 genome.wustl.edu 37 11 77320435 77320435 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 77320435 77320435 C T SNP AQP11 ENST00000528638 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AQP11 HGNC ENSG00000178301 159 0 0 100 21 17.3554 KCTD21 0 genome.wustl.edu 37 11 77884849 77884849 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 77884849 77884849 T C SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.752 p.N251S 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 349 0 0 220 64 22.5352 USP35 0 genome.wustl.edu 37 11 77907363 77907363 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 77907363 77907363 C T SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.72 p.R24 0.973 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 18 0 0 19 5 20.8333 TENM4 0 genome.wustl.edu 37 11 78369544 78369544 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 78369544 78369544 T C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.7869 p.G2623 0.974 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 70 0 0 40 9 18.3673 TENM4 0 genome.wustl.edu 37 11 78383286 78383286 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 78383286 78383286 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5585 p.R1862Q 0.999 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 106 0 0 71 22 23.6559 TUB 0 genome.wustl.edu 37 11 8117104 8117104 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 8117104 8117104 A T SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.622 p.I208F 1.000 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 35 0 0 44 7 13.7255 RIC3 0 genome.wustl.edu 37 11 8132264 8132264 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 8132264 8132264 T C SNP RIC3 ENST00000309737 human ensembl 74_37 -1 known missense c.1091 p.N364S 0.961 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 199 0 0 115 28 19.5804 DLG2 0 genome.wustl.edu 37 11 83641391 83641391 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 83641391 83641391 T C SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known silent c.1476 p.L492 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 139 0 0 117 13 10 CD151 0 genome.wustl.edu 37 11 837482 837482 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 837482 837482 A G SNP CD151 ENST00000322008 human ensembl 74_37 +1 known missense c.479 p.N160S 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 41 0 0 27 7 20.5882 DLG2 0 genome.wustl.edu 37 11 83810087 83810087 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 83810087 83810087 T A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.628 p.N210Y 0.998 pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 118 0 0 53 22 29.3333 PRSS23 0 genome.wustl.edu 37 11 86519334 86519334 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 86519334 86519334 A G SNP PRSS23 ENST00000280258 human ensembl 74_37 +1 known missense c.649 p.M217V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS23 HGNC ENSG00000150687 70 0 0 55 10 15.3846 TMEM135 0 genome.wustl.edu 37 11 87029214 87029214 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 87029214 87029214 T C SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known silent c.1113 p.V371 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 267 0 0 185 48 20.6009 GRM5 0 genome.wustl.edu 37 11 88337911 88337911 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 88337911 88337911 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1369 p.D457N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 91 0 0 62 16 20.5128 NOX4 0 genome.wustl.edu 37 11 89224368 89224368 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 89224368 89224368 T C SNP NOX4 ENST00000263317 human ensembl 74_37 -1 known missense c.47 p.H16R 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 26 0 0 16 5 23.8095 CHORDC1 0 genome.wustl.edu 37 11 89947184 89947184 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 89947184 89947184 A G SNP CHORDC1 ENST00000320585 human ensembl 74_37 -1 known splice_site c.329+2 e4+2 1.000 - - - no_errors CHORDC1 HGNC ENSG00000110172 319 0 0 215 51 19.1729 FAT3 0 genome.wustl.edu 37 11 92495039 92495039 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92495039 92495039 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.3687 p.G1229 0.035 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 305 1 0.326797 211 51 19.4656 FAT3 0 genome.wustl.edu 37 11 92531033 92531033 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92531033 92531033 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.4854 p.P1618 0.101 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 136 0 0 106 28 20.8955 FAT3 0 genome.wustl.edu 37 11 92532943 92532943 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92532943 92532943 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6764 p.K2255R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 39 0 0 33 7 17.5 FAT3 0 genome.wustl.edu 37 11 92538325 92538325 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92538325 92538325 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8903 p.N2968S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 95 0 0 67 9 11.8421 SLC36A4 0 genome.wustl.edu 37 11 92901114 92901114 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92901114 92901114 A G SNP SLC36A4 ENST00000326402 human ensembl 74_37 -1 known missense c.764 p.V255A 0.734 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A4 HGNC ENSG00000180773 151 0 0 118 20 14.4928 MED17 0 genome.wustl.edu 37 11 93517741 93517741 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 93517741 93517741 A C SNP MED17 ENST00000251871 human ensembl 74_37 +1 known missense c.62 p.E21A 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 28 0 0 11 2 15.3846 ENDOD1 0 genome.wustl.edu 37 11 94862578 94862578 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 94862578 94862578 C T SNP ENDOD1 ENST00000278505 human ensembl 74_37 +1 known silent c.1338 p.G446 0.050 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOD1 HGNC ENSG00000149218 253 0 0 195 43 18.0672 SESN3 0 genome.wustl.edu 37 11 94911072 94911072 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 94911072 94911072 T C SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known missense c.1058 p.D353G 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 98 0 0 65 14 17.7215 CEP57 0 genome.wustl.edu 37 11 95562484 95562484 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 95562484 95562484 T A SNP CEP57 ENST00000325542 human ensembl 74_37 +1 known missense c.1261 p.Y421N 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 315 0 0 215 52 19.4757 MAML2 0 genome.wustl.edu 37 11 95712489 95712489 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 95712489 95712489 T C SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.3094 p.M1032V 0.778 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 52 0 0 47 8 14.5455 MAML2 0 genome.wustl.edu 37 11 95826382 95826382 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 95826382 95826382 C G SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.813 p.E271D 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 135 0 0 103 29 21.9697 SBF2 0 genome.wustl.edu 37 11 9803113 9803113 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 9803113 9803113 T C SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.5392 p.I1798V 0.958 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 247 0 0 164 41 20 FAM71C 0 genome.wustl.edu 37 12 100042499 100042499 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 100042499 100042499 A G SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.547 p.T183A 0.001 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 56 0 0 29 10 25.641 WNK1 0 genome.wustl.edu 37 12 1005855 1005855 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 1005855 1005855 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7696 p.E2566K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 105 0 0 87 14 13.8614 NR1H4 0 genome.wustl.edu 37 12 100930827 100930827 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 100930827 100930827 T C SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known splice_site c.961+2 e6+2 1.000 - - - no_errors NR1H4 HGNC ENSG00000012504 288 0 0 159 31 16.3158 ANO4 0 genome.wustl.edu 37 12 101295506 101295506 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 101295506 101295506 T A SNP ANO4 ENST00000538618 human ensembl 74_37 +1 known silent c.441 p.R147 0.945 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 112 0 0 87 16 15.534 ANO4 0 genome.wustl.edu 37 12 101336279 101336279 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 101336279 101336279 A G SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.422 p.N141S 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 263 0 0 191 46 19.4093 ANO4 0 genome.wustl.edu 37 12 101381332 101381332 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 101381332 101381332 A G SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.618 p.I206M 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 596 0 0 411 108 20.8092 GNPTAB 0 genome.wustl.edu 37 12 102158613 102158613 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 102158613 102158613 T C SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known silent c.2082 p.K694 0.323 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 179 0 0 122 28 18.6667 RAD52 0 genome.wustl.edu 37 12 1023614 1023614 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 1023614 1023614 A G SNP RAD52 ENST00000358495 human ensembl 74_37 -1 known missense c.950 p.V317A 0.000 NULL pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 70 0 0 66 16 19.5122 PAH 0 genome.wustl.edu 37 12 103306669 103306669 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 103306669 103306669 C A SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.68 p.S23I 1.000 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 186 0 0 153 35 18.617 RAD52 0 genome.wustl.edu 37 12 1034619 1034619 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 1034619 1034619 G A SNP RAD52 ENST00000358495 human ensembl 74_37 -1 known silent c.540 p.R180 0.887 pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 199 0 0 148 33 18.232 STAB2 0 genome.wustl.edu 37 12 104067847 104067847 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 104067847 104067847 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.2534 p.Y845C 0.998 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 125 0 0 81 17 17.3469 HSP90B1 0 genome.wustl.edu 37 12 104340627 104340627 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 104340627 104340627 C T SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.2170 p.R724W 0.989 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 127 1 0.78125 86 14 14 GLT8D2 0 genome.wustl.edu 37 12 104388210 104388210 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 104388210 104388210 A G SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known missense c.670 p.C224R 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 125 0 0 94 15 13.7615 APPL2 0 genome.wustl.edu 37 12 105622983 105622983 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 105622983 105622983 C T SNP APPL2 ENST00000551662 human ensembl 74_37 -1 known missense c.73 p.V25M 1.000 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 37 0 0 31 8 20.5128 KLRC2 0 genome.wustl.edu 37 12 10586526 10586526 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 10586526 10586526 T C SNP KLRC2 ENST00000381901 human ensembl 74_37 -1 known missense c.347 p.H116R 0.000 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC2 HGNC ENSG00000205809 343 0 0 224 47 17.3432 CKAP4 0 genome.wustl.edu 37 12 106633587 106633587 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 106633587 106633587 C T SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.1024 p.A342T 0.985 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 59 0 0 41 12 22.6415 RIC8B 0 genome.wustl.edu 37 12 107208622 107208622 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 107208622 107208622 G A SNP RIC8B ENST00000392837 human ensembl 74_37 +1 known missense c.281 p.R94Q 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 186 0 0 131 40 23.3918 CRY1 0 genome.wustl.edu 37 12 107386601 107386601 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 107386601 107386601 A G SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known silent c.1725 p.S575 0.970 NULL pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 275 0 0 183 43 19.0265 KLRAP1 0 genome.wustl.edu 37 12 10748416 10748416 + RNA SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 10748416 10748416 T A SNP KLRAP1 ENST00000535939 human ensembl 74_37 -1 known rna NULL NULL 0.371 - - - no_errors KLRAP1 HGNC ENSG00000256667 135 0 0 83 18 17.8218 YBX3 0 genome.wustl.edu 37 12 10854626 10854626 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 10854626 10854626 T C SNP YBX3 ENST00000228251 human ensembl 74_37 -1 known missense c.986 p.Y329C 0.999 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX3 HGNC ENSG00000060138 299 0 0 227 56 19.788 SART3 0 genome.wustl.edu 37 12 108941702 108941702 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 108941702 108941702 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.505 p.V169M 0.998 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 58 0 0 59 11 15.7143 USP30 0 genome.wustl.edu 37 12 109520724 109520724 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 109520724 109520724 A G SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.1025 p.H342R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 98 0 0 59 15 20.2703 ACACB 0 genome.wustl.edu 37 12 109685423 109685423 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 109685423 109685423 C A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5584 p.L1862M 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 255 0 0 169 28 14.2132 KCTD10 0 genome.wustl.edu 37 12 109898554 109898554 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 109898554 109898554 G C SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.274 p.R92G 1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 89 0 0 63 10 13.6986 TRPV4 0 genome.wustl.edu 37 12 110226519 110226519 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 110226519 110226519 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known silent c.1894 p.L632 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 124 0 0 73 17 18.8889 PPTC7 0 genome.wustl.edu 37 12 110989605 110989605 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 110989605 110989605 A G SNP PPTC7 ENST00000354300 human ensembl 74_37 -1 known missense c.392 p.V131A 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPTC7 HGNC ENSG00000196850 325 0 0 222 57 20.4301 TCTN1 0 genome.wustl.edu 37 12 111057695 111057695 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 111057695 111057695 G A SNP TCTN1 ENST00000397659 human ensembl 74_37 +1 known missense c.275 p.C92Y 1.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 201 0 0 183 10 5.18135 CCDC63 0 genome.wustl.edu 37 12 111317711 111317711 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 111317711 111317711 T C SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.491 p.V164A 1.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 314 0 0 211 66 23.8267 MYL2 0 genome.wustl.edu 37 12 111356998 111356998 + Splice_Site SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 111356998 111356998 C A SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known splice_site c.4-1 e2-1 1.000 - - - no_errors MYL2 HGNC ENSG00000111245 71 0 0 48 12 20 ACAD10 0 genome.wustl.edu 37 12 112193508 112193508 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 112193508 112193508 G A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.3091 p.A1031T 0.987 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 181 0 0 113 33 22.6027 MAPKAPK5 0 genome.wustl.edu 37 12 112305379 112305379 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 112305379 112305379 C T SNP MAPKAPK5 ENST00000551404 human ensembl 74_37 +1 known missense c.190 p.R64C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK5 HGNC ENSG00000089022 283 0 0 199 40 16.7364 ERP29 0 genome.wustl.edu 37 12 112460247 112460247 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 112460247 112460247 G A SNP ERP29 ENST00000261735 human ensembl 74_37 +1 known missense c.577 p.E193K 0.998 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 88 0 0 64 15 18.9873 RPH3A 0 genome.wustl.edu 37 12 113306354 113306354 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 113306354 113306354 A G SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known silent c.564 p.E188 1.000 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 85 0 0 58 14 19.4444 OAS1 0 genome.wustl.edu 37 12 113354471 113354471 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 113354471 113354471 A G SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.812 p.Y271C 0.969 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 215 0 0 153 24 13.5593 DTX1 0 genome.wustl.edu 37 12 113532900 113532900 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 113532900 113532900 T C SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known silent c.1440 p.G480 0.996 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 55 0 0 47 12 20.339 DDX54 0 genome.wustl.edu 37 12 113612693 113612693 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 113612693 113612693 T C SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.923 p.N308S 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 28 0 0 24 10 29.4118 TPCN1 0 genome.wustl.edu 37 12 113723763 113723763 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 113723763 113723763 A G SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.1739 p.N580S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 136 0 0 107 15 12.2951 PRB3 0 genome.wustl.edu 37 12 11422608 11422608 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 11422608 11422608 C T SNP PRB3 ENST00000440870 human ensembl 74_37 -1 known rna NULL NULL 0.681 - - - no_errors PRB3 HGNC ENSG00000197870 100 0 0 62 24 27.907 RBM19 0 genome.wustl.edu 37 12 114397151 114397151 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 114397151 114397151 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.437 p.A146V 0.015 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 91 0 0 56 19 25.3333 TBX5 0 genome.wustl.edu 37 12 114841604 114841604 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 114841604 114841604 C G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.100 p.A34P 0.981 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 88 0 0 52 21 28.7671 TBX3 0 genome.wustl.edu 37 12 115117308 115117308 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 115117308 115117308 A G SNP TBX3 ENST00000257566 human ensembl 74_37 -1 known splice_site c.864+2 e4+2 1.000 - - - no_errors TBX3 HGNC ENSG00000135111 233 0 0 131 39 22.9412 MED13L 0 genome.wustl.edu 37 12 116457117 116457117 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 116457117 116457117 A G SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.921 p.V307 0.733 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 121 0 0 107 15 12.2951 NOS1 0 genome.wustl.edu 37 12 117723943 117723943 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 117723943 117723943 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1256 p.R419H 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 141 0 0 99 24 19.5122 KSR2 0 genome.wustl.edu 37 12 117962945 117962945 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 117962945 117962945 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1931 p.S644N 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 57 0 0 56 3 5.08475 TAOK3 0 genome.wustl.edu 37 12 118590074 118590074 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 118590074 118590074 T C SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known silent c.2493 p.L831 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 130 0 0 112 25 18.2482 GCN1L1 0 genome.wustl.edu 37 12 120567101 120567101 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 120567101 120567101 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.7869 p.R2623 0.996 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 293 0 0 204 54 20.9302 GCN1L1 0 genome.wustl.edu 37 12 120575062 120575062 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 120575062 120575062 A G SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.6725 p.I2242T 0.524 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 183 1 0.543478 147 31 17.4157 GCN1L1 0 genome.wustl.edu 37 12 120593173 120593173 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 120593173 120593173 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.3502 p.V1168M 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 106 0 0 79 16 16.8421 RPLP0 0 genome.wustl.edu 37 12 120635190 120635190 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 120635190 120635190 T C SNP RPLP0 ENST00000228306 human ensembl 74_37 -1 known missense c.727 p.N243D 1.000 pfam_Ribosomal_L10/L12 pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12 - no_errors RPLP0 HGNC ENSG00000089157 65 0 0 45 14 23.7288 RNF34 0 genome.wustl.edu 37 12 121858092 121858092 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 121858092 121858092 C T SNP RNF34 ENST00000392465 human ensembl 74_37 +1 known silent c.684 p.D228 0.013 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF34 HGNC ENSG00000170633 36 0 0 21 9 30 ZCCHC8 0 genome.wustl.edu 37 12 122958303 122958303 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 122958303 122958303 G A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.1865 p.A622V 0.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 334 1 0.298507 294 18 5.76923 RSRC2 0 genome.wustl.edu 37 12 123005956 123005956 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 123005956 123005956 G A SNP RSRC2 ENST00000354654 human ensembl 74_37 -1 known missense c.17 p.T6I 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 143 0 0 92 23 20 KNTC1 0 genome.wustl.edu 37 12 123060422 123060422 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 123060422 123060422 A G SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.2562 p.V854 0.968 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 69 0 0 33 9 21.4286 KNTC1 0 genome.wustl.edu 37 12 123099602 123099602 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 123099602 123099602 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.5942 p.G1981E 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 32 0 0 27 7 20.5882 SBNO1 0 genome.wustl.edu 37 12 123806165 123806165 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 123806165 123806165 T C SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.2240 p.Y747C 0.996 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 211 0 0 143 37 20.5556 DDX55 0 genome.wustl.edu 37 12 124102328 124102328 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 124102328 124102328 G A SNP DDX55 ENST00000238146 human ensembl 74_37 +1 known missense c.1073 p.R358H 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 172 0 0 117 29 19.863 DNAH10 0 genome.wustl.edu 37 12 124330240 124330240 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 124330240 124330240 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5100 p.A1700 0.987 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 71 0 0 51 18 26.087 DNAH10 0 genome.wustl.edu 37 12 124352477 124352477 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 124352477 124352477 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6976 p.A2326T 0.856 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 52 0 0 35 11 23.913 DHX37 0 genome.wustl.edu 37 12 125432358 125432358 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 125432358 125432358 G T SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.3464 p.T1155N 0.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 27 0 0 19 5 20.8333 SLC15A4 0 genome.wustl.edu 37 12 129278857 129278857 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 129278857 129278857 C T SNP SLC15A4 ENST00000266771 human ensembl 74_37 -1 known missense c.1618 p.A540T 1.000 superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 90 0 0 72 20 21.7391 GPRC5A 0 genome.wustl.edu 37 12 13065434 13065434 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 13065434 13065434 C T SNP GPRC5A ENST00000014914 human ensembl 74_37 +1 known silent c.1035 p.S345 1.000 NULL pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 286 0 0 206 52 20.155 RIMBP2 0 genome.wustl.edu 37 12 130941158 130941158 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 130941158 130941158 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.190 p.H64Y 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 39 0 0 39 7 15.2174 GPR133 0 genome.wustl.edu 37 12 131439178 131439178 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 131439178 131439178 G A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.76 p.V26I 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 130 0 0 95 14 12.844 KIAA1467 0 genome.wustl.edu 37 12 13215855 13215855 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 13215855 13215855 C T SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known silent c.798 p.D266 0.566 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 485 0 0 354 94 20.9821 EP400 0 genome.wustl.edu 37 12 132512679 132512679 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 132512679 132512679 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.5335 p.S1779G 0.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 97 0 0 72 21 22.5806 EP400 0 genome.wustl.edu 37 12 132561083 132561083 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 132561083 132561083 T C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.9152 p.V3051A 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 75 0 0 51 6 10.5263 POLE 0 genome.wustl.edu 37 12 133241979 133241979 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133241979 133241979 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.2377 p.R793C 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 83 0 0 47 11 18.9655 POLE 0 genome.wustl.edu 37 12 133245254 133245254 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133245254 133245254 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.1993 p.R665W 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 50 0 0 27 12 30.7692 POLE 0 genome.wustl.edu 37 12 133256634 133256634 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133256634 133256634 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known splice_site c.331-2 e5-2 1.000 - - - no_errors POLE HGNC ENSG00000177084 126 0 0 94 20 17.5439 ANKLE2 0 genome.wustl.edu 37 12 133310978 133310978 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133310978 133310978 G T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.1884 p.T628 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 102 0 0 71 18 20.2247 GOLGA3 0 genome.wustl.edu 37 12 133354367 133354367 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133354367 133354367 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3607 p.G1203R 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 19 0 0 17 7 29.1667 ZNF605 0 genome.wustl.edu 37 12 133502068 133502068 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133502068 133502068 C A SNP ZNF605 ENST00000360187 human ensembl 74_37 -1 known missense c.1817 p.R606M 0.012 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF605 HGNC ENSG00000196458 289 0 0 182 41 18.3857 GRIN2B 0 genome.wustl.edu 37 12 13716145 13716145 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 13716145 13716145 A G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.4027 p.S1343P 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 95 0 0 72 18 20 ATF7IP 0 genome.wustl.edu 37 12 14613945 14613945 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 14613945 14613945 T C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.2675 p.V892A 0.959 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 123 0 0 81 22 21.3592 GUCY2C 0 genome.wustl.edu 37 12 14827604 14827604 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 14827604 14827604 T C SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.1039 p.T347A 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 282 0 0 180 32 15.0943 C12orf60 0 genome.wustl.edu 37 12 14976450 14976450 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 14976450 14976450 T C SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known missense c.581 p.V194A 0.001 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 92 0 0 94 9 8.73786 ERP27 0 genome.wustl.edu 37 12 15090939 15090939 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 15090939 15090939 C T SNP ERP27 ENST00000266397 human ensembl 74_37 -1 known missense c.142 p.A48T 0.920 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 166 0 0 104 31 22.963 RERG 0 genome.wustl.edu 37 12 15264338 15264338 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 15264338 15264338 T C SNP RERG ENST00000256953 human ensembl 74_37 -1 known silent c.132 p.R44 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC ENSG00000134533 230 0 0 147 53 26.5 PTPRO 0 genome.wustl.edu 37 12 15734725 15734725 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 15734725 15734725 G A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.3245 p.R1082Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 84 0 0 77 21 21.4286 ADIPOR2 0 genome.wustl.edu 37 12 1882025 1882025 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 1882025 1882025 A G SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known silent c.189 p.E63 0.718 NULL pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 145 0 0 108 25 18.797 ADIPOR2 0 genome.wustl.edu 37 12 1889790 1889790 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 1889790 1889790 C T SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known missense c.637 p.R213W 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 505 0 0 306 91 22.9219 PDE3A 0 genome.wustl.edu 37 12 20766423 20766423 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 20766423 20766423 C G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.1058 p.A353G 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 134 0 0 124 10 7.46269 PDE3A 0 genome.wustl.edu 37 12 20792787 20792787 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 20792787 20792787 A G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2147 p.Y716C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 185 0 0 121 34 21.9355 PDE3A 0 genome.wustl.edu 37 12 20799759 20799759 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 20799759 20799759 T A SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2440 p.Y814N 1.000 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 337 0 0 233 63 21.2838 SLCO1B3 0 genome.wustl.edu 37 12 21068985 21068985 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21068985 21068985 T C SNP SLCO1B3 ENST00000261196 human ensembl 74_37 +1 known missense c.1913 p.V638A 0.074 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 109 0 0 73 4 5.19481 SLCO1B7 0 genome.wustl.edu 37 12 21174422 21174422 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21174422 21174422 T C SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known silent c.387 p.I129 0.001 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 17 0 0 15 4 21.0526 SLCO1B3 0 genome.wustl.edu 37 12 21229407 21229407 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21229407 21229407 A G SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1952 p.Y651C 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 313 0 0 201 45 18.2927 SLCO1B1 0 genome.wustl.edu 37 12 21375266 21375266 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21375266 21375266 T C SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1715 p.L572P 0.990 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 126 0 0 79 22 21.7822 RECQL 0 genome.wustl.edu 37 12 21623156 21623156 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21623156 21623156 G T SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1922 p.A641D 0.999 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 176 0 0 130 21 13.9073 KCNJ8 0 genome.wustl.edu 37 12 21919133 21919133 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21919133 21919133 T C SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.799 p.I267V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 87 0 0 65 21 24.4186 ABCC9 0 genome.wustl.edu 37 12 21970154 21970154 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 21970154 21970154 T C SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3859 p.T1287A 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 355 0 0 274 60 17.9641 ABCC9 0 genome.wustl.edu 37 12 22061055 22061055 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 22061055 22061055 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1411 p.Y471H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 77 0 0 56 16 22.2222 SOX5 0 genome.wustl.edu 37 12 23716308 23716308 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 23716308 23716308 T C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1372 p.K458E 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 245 0 0 189 27 12.5 SOX5 0 genome.wustl.edu 37 12 23893942 23893942 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 23893942 23893942 C T SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.600 p.R200 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 89 0 0 66 18 21.4286 BCAT1 0 genome.wustl.edu 37 12 25002718 25002718 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 25002718 25002718 A G SNP BCAT1 ENST00000261192 human ensembl 74_37 -1 known splice_site c.674+2 e6+2 1.000 - - - no_errors BCAT1 HGNC ENSG00000060982 266 0 0 211 37 14.9194 ITPR2 0 genome.wustl.edu 37 12 26714699 26714699 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 26714699 26714699 A G SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.4817 p.L1606S 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 67 0 0 51 4 7.27273 CACNA1C 0 genome.wustl.edu 37 12 2676928 2676928 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 2676928 2676928 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.1863 p.C621 0.955 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 29 0 0 18 7 28 FGFR1OP2 0 genome.wustl.edu 37 12 27107161 27107161 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 27107161 27107161 G A SNP FGFR1OP2 ENST00000229395 human ensembl 74_37 +1 known missense c.70 p.D24N 0.998 pfam_SIKE pfam_SIKE,superfamily_DNA-bd_dom_put - no_errors FGFR1OP2 HGNC ENSG00000111790 126 0 0 90 22 19.6429 CACNA1C 0 genome.wustl.edu 37 12 2716226 2716226 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 2716226 2716226 T C SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.3286 p.F1096L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 52 0 0 32 8 20 STK38L 0 genome.wustl.edu 37 12 27475266 27475266 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 27475266 27475266 A G SNP STK38L ENST00000389032 human ensembl 74_37 +1 known missense c.1273 p.N425D 1.000 pfam_Pkinase_C,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38L HGNC ENSG00000211455 345 0 0 227 59 20.6294 FKBP4 0 genome.wustl.edu 37 12 2909724 2909724 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 2909724 2909724 C T SNP FKBP4 ENST00000001008 human ensembl 74_37 +1 known missense c.1013 p.A338V 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 95 0 0 67 15 18.2927 ITFG2 0 genome.wustl.edu 37 12 2926419 2926419 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 2926419 2926419 G A SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known missense c.127 p.G43R 1.000 pfam_FG-GAP,superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 46 0 0 48 11 18.6441 FAR2 0 genome.wustl.edu 37 12 29485561 29485561 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 29485561 29485561 A G SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.1286 p.N429S 1.000 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 150 0 0 112 20 15.1515 ERGIC2 0 genome.wustl.edu 37 12 29524548 29524548 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 29524548 29524548 T C SNP ERGIC2 ENST00000360150 human ensembl 74_37 -1 known missense c.19 p.K7E 1.000 NULL pfam_Erv_C - no_errors ERGIC2 HGNC ENSG00000087502 78 0 0 66 5 7.04225 FOXM1 0 genome.wustl.edu 37 12 2983279 2983279 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 2983279 2983279 C T SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known silent c.366 p.R122 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 223 0 0 172 39 18.4834 IPO8 0 genome.wustl.edu 37 12 30814171 30814171 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 30814171 30814171 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.1785 p.S595 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 133 0 0 100 28 21.875 IPO8 0 genome.wustl.edu 37 12 30815390 30815390 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 30815390 30815390 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.1626 p.P542 0.509 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 110 0 0 80 13 13.9785 CAPRIN2 0 genome.wustl.edu 37 12 30873765 30873765 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 30873765 30873765 T A SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.2128 p.M710L 0.755 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 222 0 0 159 35 18.0412 TEAD4 0 genome.wustl.edu 37 12 3129841 3129841 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 3129841 3129841 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.625 p.P209S 0.897 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 90 0 0 64 29 31.1828 TEAD4 0 genome.wustl.edu 37 12 3129842 3129842 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 3129842 3129842 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.626 p.P209L 0.929 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 90 0 0 81 15 15.625 DENND5B 0 genome.wustl.edu 37 12 31545266 31545266 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 31545266 31545266 A G SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.3506 p.V1169A 0.994 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 101 0 0 74 16 17.7778 BICD1 0 genome.wustl.edu 37 12 32481126 32481126 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 32481126 32481126 A G SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known silent c.1737 p.E579 0.952 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 135 0 0 123 7 5.38462 FGD4 0 genome.wustl.edu 37 12 32754251 32754251 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 32754251 32754251 T C SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.730 p.S244P 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 113 0 0 80 26 24.5283 PRMT8 0 genome.wustl.edu 37 12 3649830 3649830 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 3649830 3649830 G A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known missense c.134 p.C45Y 0.123 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 347 0 0 224 60 21.1268 ABCD2 0 genome.wustl.edu 37 12 40013362 40013362 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 40013362 40013362 G T SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known missense c.56 p.A19D 1.000 NULL pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 148 0 0 113 28 19.8582 C12orf40 0 genome.wustl.edu 37 12 40040225 40040225 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 40040225 40040225 T C SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known silent c.297 p.C99 0.000 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 311 0 0 229 40 14.8699 SLC2A13 0 genome.wustl.edu 37 12 40223949 40223949 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 40223949 40223949 A G SNP SLC2A13 ENST00000280871 human ensembl 74_37 -1 known silent c.1401 p.C467 0.995 superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 135 0 0 75 24 24.2424 KDM5A 0 genome.wustl.edu 37 12 416989 416989 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 416989 416989 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known silent c.3561 p.S1187 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 253 0 0 214 36 14.4 PPHLN1 0 genome.wustl.edu 37 12 42729685 42729685 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 42729685 42729685 T C SNP PPHLN1 ENST00000395580 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 185 0 0 139 11 7.33333 PRICKLE1 0 genome.wustl.edu 37 12 42853620 42853620 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 42853620 42853620 A G SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.2487 p.I829 0.133 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 399 1 0.25 283 51 15.2695 PRICKLE1 0 genome.wustl.edu 37 12 42853889 42853889 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 42853889 42853889 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.2218 p.D740N 0.108 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 207 0 0 155 33 17.5532 ADAMTS20 0 genome.wustl.edu 37 12 43792885 43792885 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 43792885 43792885 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4436 p.A1479V 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 9 0 0 3 4 57.1429 PUS7L 0 genome.wustl.edu 37 12 44136258 44136258 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 44136258 44136258 A G SNP PUS7L ENST00000344862 human ensembl 74_37 -1 known splice_site c.1362+2 e4+2 1.000 - - - no_errors PUS7L HGNC ENSG00000129317 157 0 0 104 21 16.8 TMEM117 0 genome.wustl.edu 37 12 44782204 44782204 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 44782204 44782204 A G SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.1294 p.T432A 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 157 0 0 123 21 14.5833 NELL2 0 genome.wustl.edu 37 12 45170874 45170874 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 45170874 45170874 A G SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.863 p.V288A 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 168 0 0 107 28 20.7407 ANO6 0 genome.wustl.edu 37 12 45771863 45771863 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 45771863 45771863 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.1132 p.T378A 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 304 0 0 197 48 19.5918 SCAF11 0 genome.wustl.edu 37 12 46316821 46316821 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 46316821 46316821 C T SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known silent c.4023 p.S1341 0.889 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 483 1 0.206612 298 87 22.5974 SCAF11 0 genome.wustl.edu 37 12 46322023 46322023 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 46322023 46322023 A G SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known silent c.1461 p.G487 0.125 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 210 0 0 179 41 18.6364 SLC38A2 0 genome.wustl.edu 37 12 46756417 46756417 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 46756417 46756417 C T SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known missense c.1184 p.R395Q 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 84 0 0 78 20 20.4082 SLC38A2 0 genome.wustl.edu 37 12 46758170 46758170 + Splice_Site SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 46758170 46758170 A T SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known splice_site c.873+2 e9+2 1.000 - - - no_errors SLC38A2 HGNC ENSG00000134294 339 0 0 320 22 6.43275 SLC38A2 0 genome.wustl.edu 37 12 46758283 46758283 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 46758283 46758283 G A SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known silent c.762 p.N254 0.907 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 533 0 0 347 100 22.3714 AKAP3 0 genome.wustl.edu 37 12 4737718 4737718 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 4737718 4737718 T C SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.350 p.N117S 0.005 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 207 0 0 158 37 18.9744 AMIGO2 0 genome.wustl.edu 37 12 47471555 47471555 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 47471555 47471555 C T SNP AMIGO2 ENST00000266581 human ensembl 74_37 -1 known missense c.1231 p.V411I 0.968 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 75 0 0 59 16 21.3333 PCED1B 0 genome.wustl.edu 37 12 47629856 47629856 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 47629856 47629856 C T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.1010 p.P337L 0.005 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 282 0 0 153 38 19.8953 GALNT8 0 genome.wustl.edu 37 12 4870167 4870167 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 4870167 4870167 G A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.1217 p.R406Q 0.071 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 146 1 0.680272 77 24 23.7624 ADCY6 0 genome.wustl.edu 37 12 49170029 49170029 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49170029 49170029 A G SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.1640 p.I547T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 90 0 0 57 12 17.3913 PRKAG1 0 genome.wustl.edu 37 12 49399287 49399287 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49399287 49399287 G A SNP PRKAG1 ENST00000548065 human ensembl 74_37 -1 known nonsense c.208 p.R70* 0.997 smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG1 HGNC ENSG00000181929 131 0 0 94 30 24.1935 KMT2D 0 genome.wustl.edu 37 12 49434235 49434235 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49434235 49434235 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.7318 p.V2440I 0.969 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 90 0 0 62 9 12.6761 KMT2D 0 genome.wustl.edu 37 12 49434729 49434729 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49434729 49434729 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.6824 p.P2275L 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 75 0 0 56 14 20 LMBR1L 0 genome.wustl.edu 37 12 49499707 49499707 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49499707 49499707 G A SNP LMBR1L ENST00000267102 human ensembl 74_37 -1 known missense c.191 p.A64V 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 72 0 0 43 11 20.3704 PRPH 0 genome.wustl.edu 37 12 49689976 49689976 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49689976 49689976 G A SNP PRPH ENST00000257860 human ensembl 74_37 +1 known silent c.561 p.T187 0.600 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 28 0 0 32 7 17.9487 NCKAP5L 0 genome.wustl.edu 37 12 50196941 50196941 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 50196941 50196941 T G SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.131 p.N44T 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 101 0 0 55 10 15.3846 KCNA1 0 genome.wustl.edu 37 12 5020786 5020786 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 5020786 5020786 T C SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.242 p.F81S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 91 0 0 53 17 24.2857 GPD1 0 genome.wustl.edu 37 12 50500173 50500173 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 50500173 50500173 G A SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known missense c.463 p.E155K 1.000 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 58 0 0 36 8 18.1818 LARP4 0 genome.wustl.edu 37 12 50847269 50847269 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 50847269 50847269 T C SNP LARP4 ENST00000429001 human ensembl 74_37 +1 known silent c.849 p.F283 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 221 0 0 131 46 25.9887 DIP2B 0 genome.wustl.edu 37 12 51034587 51034587 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 51034587 51034587 T C SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.253 p.Y85H 1.000 pfam_DMAP1-bd pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 112 0 0 52 19 26.7606 LETMD1 0 genome.wustl.edu 37 12 51449688 51449688 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 51449688 51449688 A G SNP LETMD1 ENST00000262055 human ensembl 74_37 +1 known missense c.544 p.I182V 0.533 pfam_LETM1 pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 292 0 0 202 46 18.5484 CSRNP2 0 genome.wustl.edu 37 12 51458364 51458364 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 51458364 51458364 C T SNP CSRNP2 ENST00000228515 human ensembl 74_37 -1 known missense c.797 p.R266Q 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 174 0 0 131 27 17.0886 KCNA5 0 genome.wustl.edu 37 12 5153912 5153912 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 5153912 5153912 T C SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.599 p.I200T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 89 0 0 45 7 13.4615 SLC4A8 0 genome.wustl.edu 37 12 51882561 51882561 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 51882561 51882561 C A SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.2365 p.P789T 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 200 1 0.497512 136 45 24.8619 SCN8A 0 genome.wustl.edu 37 12 52156379 52156379 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 52156379 52156379 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.2463 p.D821 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 315 1 0.316456 190 70 26.9231 KRT80 0 genome.wustl.edu 37 12 52566892 52566892 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 52566892 52566892 C T SNP KRT80 ENST00000394815 human ensembl 74_37 -1 known missense c.887 p.R296H 0.996 pfam_IF,prints_Keratin_II pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT80 HGNC ENSG00000167767 42 0 0 40 10 20 KRT83 0 genome.wustl.edu 37 12 52714818 52714818 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 52714818 52714818 T C SNP KRT83 ENST00000293670 human ensembl 74_37 -1 known missense c.302 p.D101G 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 200 0 0 154 37 19.3717 KRT82 0 genome.wustl.edu 37 12 52800051 52800051 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 52800051 52800051 T A SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known missense c.11 p.H4L 0.129 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 34 0 0 21 5 19.2308 KRT6A 0 genome.wustl.edu 37 12 52881872 52881872 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 52881872 52881872 G A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known silent c.1440 p.G480 0.044 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 126 0 0 98 26 20.9677 KRT1 0 genome.wustl.edu 37 12 53069123 53069123 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 53069123 53069123 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1789 p.G597S 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 15 0 0 11 4 26.6667 TENC1 0 genome.wustl.edu 37 12 53449467 53449467 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 53449467 53449467 A G SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.719 p.Y240C 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 224 0 0 178 34 16.0377 TENC1 0 genome.wustl.edu 37 12 53456009 53456009 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 53456009 53456009 G A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.3677 p.C1226Y 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 83 0 0 53 15 22.0588 ESPL1 0 genome.wustl.edu 37 12 53671610 53671610 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 53671610 53671610 T C SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.2230 p.S744P 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 185 0 0 148 35 19.1257 ESPL1 0 genome.wustl.edu 37 12 53677233 53677233 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 53677233 53677233 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.2988 p.C996 0.637 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 175 0 0 129 33 20.3704 HOXC8 0 genome.wustl.edu 37 12 54403221 54403221 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 54403221 54403221 C T SNP HOXC8 ENST00000040584 human ensembl 74_37 +1 known silent c.153 p.H51 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXC8 HGNC ENSG00000037965 242 0 0 157 49 23.7864 ITGA5 0 genome.wustl.edu 37 12 54799103 54799103 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 54799103 54799103 G A SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.1072 p.R358W 0.964 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 44 0 0 29 8 21.6216 TESPA1 0 genome.wustl.edu 37 12 55356581 55356581 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 55356581 55356581 T C SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known silent c.1101 p.E367 0.998 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 89 0 0 76 21 21.6495 NTF3 0 genome.wustl.edu 37 12 5603607 5603607 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 5603607 5603607 G A SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known missense c.266 p.G89E 0.245 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 59 0 0 49 18 26.8657 NTF3 0 genome.wustl.edu 37 12 5603650 5603650 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 5603650 5603650 C T SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known silent c.309 p.T103 0.001 pirsf_Nerve_growth_factor-like,prints_Neurotrophin-3 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 91 0 0 77 26 25.2427 ITGA7 0 genome.wustl.edu 37 12 56092633 56092633 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56092633 56092633 G A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.991 p.R331C 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 34 0 0 20 5 20 DNAJC14 0 genome.wustl.edu 37 12 56221972 56221972 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56221972 56221972 A G SNP DNAJC14 ENST00000317269 human ensembl 74_37 -1 known silent c.471 p.C157 0.988 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC14 HGNC ENSG00000135392 241 0 0 177 52 22.7074 IKZF4 0 genome.wustl.edu 37 12 56428913 56428913 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56428913 56428913 T C SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.1556 p.V519A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 227 2 0.873362 191 55 22.3577 ERBB3 0 genome.wustl.edu 37 12 56481863 56481863 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56481863 56481863 T C SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.791 p.V264A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 109 1 0.909091 83 17 17 PA2G4 0 genome.wustl.edu 37 12 56505008 56505008 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56505008 56505008 C A SNP PA2G4 ENST00000303305 human ensembl 74_37 +1 known missense c.980 p.P327H 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 221 1 0.45045 141 35 19.8864 ZC3H10 0 genome.wustl.edu 37 12 56515016 56515016 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56515016 56515016 T C SNP ZC3H10 ENST00000257940 human ensembl 74_37 +1 known missense c.670 p.S224P 0.486 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 102 0 0 78 20 20.4082 SMARCC2 0 genome.wustl.edu 37 12 56563585 56563585 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56563585 56563585 G A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.2430 p.S810 0.143 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 278 0 0 193 60 23.7154 SMARCC2 0 genome.wustl.edu 37 12 56565655 56565655 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56565655 56565655 C T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.1900 p.E634K 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_Chromodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 99 0 0 69 22 24.1758 SMARCC2 0 genome.wustl.edu 37 12 56581046 56581046 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56581046 56581046 C T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.156 p.L52 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 296 0 0 191 34 15.1111 SMARCC2 0 genome.wustl.edu 37 12 56583145 56583145 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56583145 56583145 T C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.101 p.N34S 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 27 0 0 26 3 10.3448 SLC39A5 0 genome.wustl.edu 37 12 56628733 56628733 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56628733 56628733 C T SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known silent c.597 p.G199 0.175 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 239 0 0 186 51 21.519 PAN2 0 genome.wustl.edu 37 12 56713165 56713165 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56713165 56713165 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.3209 p.R1070H 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 176 0 0 121 29 19.3333 PAN2 0 genome.wustl.edu 37 12 56717655 56717655 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56717655 56717655 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.2120 p.R707Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 180 0 0 138 28 16.8675 NACA 0 genome.wustl.edu 37 12 57111810 57111810 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57111810 57111810 T A SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.3504 p.P1168 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 173 0 0 141 17 10.7595 PRIM1 0 genome.wustl.edu 37 12 57135217 57135217 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57135217 57135217 A G SNP PRIM1 ENST00000338193 human ensembl 74_37 -1 known splice_site c.982+2 e9+2 1.000 - - - no_errors PRIM1 HGNC ENSG00000198056 76 0 0 39 11 22 GPR182 0 genome.wustl.edu 37 12 57389660 57389660 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57389660 57389660 A G SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.667 p.T223A 0.775 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 45 0 0 40 11 21.5686 ZBTB39 0 genome.wustl.edu 37 12 57397714 57397714 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57397714 57397714 A G SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known silent c.988 p.L330 0.951 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 362 0 0 291 63 17.7966 STAT6 0 genome.wustl.edu 37 12 57499295 57499295 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57499295 57499295 C T SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known silent c.768 p.S256 0.008 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 52 0 0 33 12 26.6667 LRP1 0 genome.wustl.edu 37 12 57532311 57532311 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57532311 57532311 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.137 p.R46Q 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 276 0 0 183 57 23.75 INHBC 0 genome.wustl.edu 37 12 57843705 57843705 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57843705 57843705 C T SNP INHBC ENST00000309668 human ensembl 74_37 +1 known missense c.959 p.T320M 0.998 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 128 0 0 88 27 23.4783 DDIT3 0 genome.wustl.edu 37 12 57910686 57910686 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57910686 57910686 T C SNP DDIT3 ENST00000551116 human ensembl 74_37 -1 known missense c.485 p.E162G 1.000 pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP - no_errors DDIT3 HGNC ENSG00000175197 233 0 0 170 54 24.1071 DDIT3 0 genome.wustl.edu 37 12 57911081 57911081 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57911081 57911081 T C SNP DDIT3 ENST00000551116 human ensembl 74_37 -1 known missense c.178 p.T60A 0.963 pirsf_DNA_damage_induc_transcript_3 pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP - no_errors DDIT3 HGNC ENSG00000175197 78 0 0 75 8 9.63855 KIF5A 0 genome.wustl.edu 37 12 57963058 57963058 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57963058 57963058 G A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.839 p.R280H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 118 0 0 80 14 14.8936 AGAP2 0 genome.wustl.edu 37 12 58124631 58124631 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 58124631 58124631 C T SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.2251 p.A751T 0.994 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 51 0 0 25 5 16.6667 AVIL 0 genome.wustl.edu 37 12 58193644 58193644 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 58193644 58193644 A G SNP AVIL ENST00000257861 human ensembl 74_37 -1 known silent c.2280 p.P760 0.011 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 328 0 0 220 54 19.708 XRCC6BP1 0 genome.wustl.edu 37 12 58350647 58350647 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 58350647 58350647 C T SNP XRCC6BP1 ENST00000300145 human ensembl 74_37 +1 known missense c.715 p.R239C 1.000 NULL pfam_Peptidase_M76_ATP23 - no_errors XRCC6BP1 HGNC ENSG00000166896 165 0 0 110 32 22.5352 USP15 0 genome.wustl.edu 37 12 62777633 62777633 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 62777633 62777633 C T SNP USP15 ENST00000280377 human ensembl 74_37 +1 known missense c.1102 p.R368C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP15 HGNC ENSG00000135655 203 0 0 151 38 20.1058 MON2 0 genome.wustl.edu 37 12 62949836 62949836 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 62949836 62949836 T C SNP MON2 ENST00000393630 human ensembl 74_37 +1 known silent c.3276 p.I1092 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 75 0 0 56 11 16.4179 AVPR1A 0 genome.wustl.edu 37 12 63544060 63544060 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 63544060 63544060 T C SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.557 p.Y186C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 115 0 0 84 19 18.4466 DPY19L2 0 genome.wustl.edu 37 12 64061918 64061918 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 64061918 64061918 G A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known missense c.256 p.R86C 0.002 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 183 0 0 129 23 15.1316 CD27 0 genome.wustl.edu 37 12 6559390 6559390 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 6559390 6559390 G A SNP CD27 ENST00000266557 human ensembl 74_37 +1 known missense c.320 p.R107H 0.979 prints_Fas_rcpt pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 100 0 0 64 19 22.8916 CD27 0 genome.wustl.edu 37 12 6559772 6559772 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 6559772 6559772 C T SNP CD27 ENST00000266557 human ensembl 74_37 +1 known missense c.514 p.R172W 0.831 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 102 0 0 91 22 19.469 HELB 0 genome.wustl.edu 37 12 66704385 66704385 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 66704385 66704385 T C SNP HELB ENST00000247815 human ensembl 74_37 +1 known silent c.1677 p.C559 0.993 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 248 0 0 171 35 16.9903 B4GALNT3 0 genome.wustl.edu 37 12 667191 667191 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 667191 667191 C T SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.2544 p.Y848 0.887 pfam_Chond_GalNAc pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 125 0 0 98 13 11.7117 CAND1 0 genome.wustl.edu 37 12 67691600 67691600 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 67691600 67691600 A G SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.821 p.Y274C 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 136 0 0 100 32 24.2424 CAND1 0 genome.wustl.edu 37 12 67692747 67692747 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 67692747 67692747 A G SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.872 p.Y291C 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 128 0 0 84 19 18.4466 ZNF384 0 genome.wustl.edu 37 12 6778267 6778267 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 6778267 6778267 T C SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.1262 p.H421R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 84 0 0 67 23 25.5556 DYRK2 0 genome.wustl.edu 37 12 68051408 68051408 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 68051408 68051408 G A SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known missense c.721 p.D241N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK2 HGNC ENSG00000127334 101 0 0 81 19 19 DYRK2 0 genome.wustl.edu 37 12 68052075 68052075 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 68052075 68052075 G A SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known missense c.1388 p.R463H 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK2 HGNC ENSG00000127334 157 0 0 116 28 19.4444 IL26 0 genome.wustl.edu 37 12 68619014 68619014 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 68619014 68619014 A G SNP IL26 ENST00000229134 human ensembl 74_37 -1 known missense c.278 p.V93A 1.000 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core - no_errors IL26 HGNC ENSG00000111536 173 0 0 123 34 21.6561 MDM1 0 genome.wustl.edu 37 12 68720795 68720795 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 68720795 68720795 G A SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known missense c.140 p.T47M 0.985 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 144 0 0 63 22 25.8824 MDM2 0 genome.wustl.edu 37 12 69233299 69233299 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 69233299 69233299 T C SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known silent c.1164 p.I388 0.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 164 0 0 127 29 18.5897 C12orf57 0 genome.wustl.edu 37 12 7053291 7053291 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 7053291 7053291 T C SNP C12orf57 ENST00000229281 human ensembl 74_37 +1 known missense c.7 p.S3P 0.998 NULL NULL - no_errors C12orf57 HGNC ENSG00000111678 220 2 0.900901 150 29 16.2011 PTPN6 0 genome.wustl.edu 37 12 7064896 7064896 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 7064896 7064896 A G SNP PTPN6 ENST00000456013 human ensembl 74_37 +1 known missense c.821 p.N274S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 83 0 0 55 8 12.6984 PTPN6 0 genome.wustl.edu 37 12 7066906 7066906 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 7066906 7066906 C T SNP PTPN6 ENST00000456013 human ensembl 74_37 +1 known silent c.1164 p.T388 0.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 73 0 0 57 11 16.1765 LGR5 0 genome.wustl.edu 37 12 71976241 71976241 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 71976241 71976241 C T SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.1558 p.R520C 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 89 0 0 86 20 18.8679 ZFC3H1 0 genome.wustl.edu 37 12 72008422 72008422 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 72008422 72008422 T A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known nonsense c.5419 p.K1807* 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 285 0 0 202 64 24.0602 CAPS2 0 genome.wustl.edu 37 12 75685541 75685541 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 75685541 75685541 A G SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.1280 p.V427A 0.004 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 116 0 0 81 18 18.1818 E2F7 0 genome.wustl.edu 37 12 77449892 77449892 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 77449892 77449892 G A SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known nonsense c.112 p.R38* 0.981 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 158 0 0 91 24 20.8696 APOBEC1 0 genome.wustl.edu 37 12 7805264 7805264 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 7805264 7805264 G A SNP APOBEC1 ENST00000229304 human ensembl 74_37 -1 known missense c.212 p.T71M 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 77 0 0 37 14 27.451 NAV3 0 genome.wustl.edu 37 12 78562562 78562562 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 78562562 78562562 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4897 p.T1633A 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 183 0 0 132 20 13.1579 OTOGL 0 genome.wustl.edu 37 12 80699432 80699432 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 80699432 80699432 T A SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.3263 p.V1088E 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 53 0 0 49 8 14.0351 LIN7A 0 genome.wustl.edu 37 12 81239535 81239535 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 81239535 81239535 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.457 p.D153N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 151 0 0 111 16 12.5984 PPFIA2 0 genome.wustl.edu 37 12 81688654 81688654 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 81688654 81688654 A G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2885 p.V962A 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 44 0 0 22 5 18.5185 FOXJ2 0 genome.wustl.edu 37 12 8196589 8196589 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 8196589 8196589 C T SNP FOXJ2 ENST00000162391 human ensembl 74_37 +1 known missense c.520 p.R174W 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 166 0 0 105 22 17.3228 SLC6A15 0 genome.wustl.edu 37 12 85279318 85279318 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 85279318 85279318 T C SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.470 p.Y157C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 125 0 0 90 18 16.6667 LRRIQ1 0 genome.wustl.edu 37 12 85439837 85439837 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 85439837 85439837 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.376 p.K126E 0.152 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 150 0 0 104 26 20 ALX1 0 genome.wustl.edu 37 12 85677642 85677642 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 85677642 85677642 G T SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.519 p.E173D 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 150 0 0 117 24 17.0213 C12orf29 0 genome.wustl.edu 37 12 88436611 88436611 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 88436611 88436611 A G SNP C12orf29 ENST00000356891 human ensembl 74_37 +1 known missense c.218 p.Y73C 1.000 NULL NULL - no_errors C12orf29 HGNC ENSG00000133641 66 0 0 54 7 11.4754 KITLG 0 genome.wustl.edu 37 12 88939540 88939540 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 88939540 88939540 C A SNP KITLG ENST00000228280 human ensembl 74_37 -1 known missense c.118 p.V40F 1.000 pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 92 0 0 62 10 13.8889 PHC1 0 genome.wustl.edu 37 12 9089487 9089487 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 9089487 9089487 T C SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.2404 p.Y802H 1.000 pfam_Znf_MYM,pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 35 0 0 22 8 26.6667 CRADD 0 genome.wustl.edu 37 12 94244136 94244136 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 94244136 94244136 A G SNP CRADD ENST00000548330 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CRADD HGNC ENSG00000169372 24 0 0 21 4 16 PLXNC1 0 genome.wustl.edu 37 12 94654559 94654559 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 94654559 94654559 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.3393 p.S1131 0.759 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 70 0 0 55 12 17.9104 FGD6 0 genome.wustl.edu 37 12 95488366 95488366 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 95488366 95488366 A G SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known splice_site c.3600+2 e15+2 1.000 - - - no_errors FGD6 HGNC ENSG00000180263 212 0 0 126 46 26.7442 FGD6 0 genome.wustl.edu 37 12 95546740 95546740 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 95546740 95546740 A G SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known silent c.2616 p.V872 0.999 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 184 0 0 107 39 26.7123 USP44 0 genome.wustl.edu 37 12 95927368 95927368 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 95927368 95927368 G A SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.665 p.S222L 0.016 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 217 0 0 138 41 22.905 CCDC38 0 genome.wustl.edu 37 12 96263270 96263270 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 96263270 96263270 T C SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known silent c.1566 p.Q522 1.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 281 0 0 182 41 18.3857 LTA4H 0 genome.wustl.edu 37 12 96407035 96407035 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 96407035 96407035 A G SNP LTA4H ENST00000228740 human ensembl 74_37 -1 known missense c.1310 p.V437A 0.985 tigrfam_Leukotriene_A4_hydrolase pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase - no_errors LTA4H HGNC ENSG00000111144 97 0 0 60 12 16.6667 KLRB1 0 genome.wustl.edu 37 12 9754153 9754153 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 9754153 9754153 A T SNP KLRB1 ENST00000229402 human ensembl 74_37 -1 known missense c.128 p.L43H 0.998 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRB1 HGNC ENSG00000111796 82 0 0 70 4 5.40541 SLC9A7P1 0 genome.wustl.edu 37 12 98849415 98849415 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 98849415 98849415 C T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.996 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 21 0 0 19 6 24 SLC9A7P1 0 genome.wustl.edu 37 12 98849434 98849434 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 98849434 98849434 G A SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 34 0 0 25 7 21.875 SLC25A3 0 genome.wustl.edu 37 12 98989556 98989556 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 98989556 98989556 G A SNP SLC25A3 ENST00000188376 human ensembl 74_37 +1 known missense c.209 p.G70D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 233 0 0 188 45 19.3133 PCCA 0 genome.wustl.edu 37 13 101077939 101077939 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 101077939 101077939 C T SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.1799 p.S600L 0.924 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 38 0 0 48 14 22.5806 TMTC4 0 genome.wustl.edu 37 13 101288800 101288800 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 101288800 101288800 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known silent c.1188 p.D396 1.000 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 119 0 0 86 22 20.3704 NALCN 0 genome.wustl.edu 37 13 101755586 101755586 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 101755586 101755586 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.2994 p.K998 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 214 0 0 162 26 13.8298 TPP2 0 genome.wustl.edu 37 13 103286306 103286306 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 103286306 103286306 C T SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known silent c.1251 p.D417 0.807 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 160 1 0.621118 107 21 16.4062 TEX30 0 genome.wustl.edu 37 13 103421785 103421785 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 103421785 103421785 T A SNP TEX30 ENST00000376032 human ensembl 74_37 -1 known missense c.122 p.D41V 0.999 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 109 0 0 59 12 16.9014 BIVM 0 genome.wustl.edu 37 13 103468911 103468911 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 103468911 103468911 T C SNP BIVM ENST00000474443 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors BIVM HGNC ENSG00000134897 246 0 0 149 30 16.7598 ERCC5 0 genome.wustl.edu 37 13 103514541 103514541 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 103514541 103514541 A G SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.1042 p.M348V 0.012 tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 197 0 0 165 32 16.2437 COL4A2 0 genome.wustl.edu 37 13 111082993 111082993 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 111082993 111082993 G A SNP COL4A2 ENST00000462309 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 161 0 0 114 37 24.5033 TUBGCP3 0 genome.wustl.edu 37 13 113159011 113159011 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 113159011 113159011 G A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.2104 p.H702Y 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 42 0 0 29 9 23.6842 ATP11A 0 genome.wustl.edu 37 13 113470490 113470490 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 113470490 113470490 A G SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.535 p.T179A 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 80 0 0 49 11 18.3333 MCF2L 0 genome.wustl.edu 37 13 113718664 113718664 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 113718664 113718664 A G SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.707 p.K236R 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 128 0 0 86 19 18.0952 MCF2L 0 genome.wustl.edu 37 13 113739245 113739245 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 113739245 113739245 A C SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.2272 p.K758Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 150 0 0 102 20 16.3934 TFDP1 0 genome.wustl.edu 37 13 114287550 114287550 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 114287550 114287550 C T SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known silent c.424 p.L142 1.000 pfam_E2F_TDP,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 59 0 0 30 12 28.5714 TMEM255B 0 genome.wustl.edu 37 13 114469097 114469097 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 114469097 114469097 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.56 p.S19L 0.137 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 112 0 0 86 21 19.6262 GAS6 0 genome.wustl.edu 37 13 114523949 114523949 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 114523949 114523949 C T SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.2054 p.G685D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 41 0 0 28 7 20 CDC16 0 genome.wustl.edu 37 13 115022679 115022679 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 115022679 115022679 C T SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known silent c.1224 p.V408 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 247 0 0 166 50 23.1481 UPF3A 0 genome.wustl.edu 37 13 115051798 115051798 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 115051798 115051798 T C SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known missense c.443 p.V148A 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 170 0 0 131 11 7.74648 TPTE2 0 genome.wustl.edu 37 13 20056655 20056655 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 20056655 20056655 T C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.152 p.E51G 0.001 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 95 0 0 94 7 6.93069 MPHOSPH8 0 genome.wustl.edu 37 13 20245347 20245347 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 20245347 20245347 A G SNP MPHOSPH8 ENST00000361479 human ensembl 74_37 +1 known missense c.2459 p.D820G 1.000 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 91 0 0 59 20 25.3165 PSPC1 0 genome.wustl.edu 37 13 20356666 20356666 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 20356666 20356666 A G SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.232 p.Y78H 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 85 0 0 57 11 16.1765 N6AMT2 0 genome.wustl.edu 37 13 21311923 21311923 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 21311923 21311923 T C SNP N6AMT2 ENST00000382754 human ensembl 74_37 -1 known missense c.166 p.S56G 0.995 pfam_N6_adenine_Mtase-rel_euk pfam_N6_adenine_Mtase-rel_euk - no_errors N6AMT2 HGNC ENSG00000150456 53 0 0 41 13 24.0741 LATS2 0 genome.wustl.edu 37 13 21562886 21562886 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 21562886 21562886 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known nonsense c.1033 p.Q345* 0.555 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 32 0 0 33 7 17.5 LATS2 0 genome.wustl.edu 37 13 21562970 21562970 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 21562970 21562970 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.949 p.H317Y 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 15 0 0 9 4 30.7692 SACS 0 genome.wustl.edu 37 13 23932488 23932488 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 23932488 23932488 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.590 p.V197A 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 438 0 0 327 67 17.0051 ATP12A 0 genome.wustl.edu 37 13 25268672 25268672 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 25268672 25268672 C T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.1486 p.R496C 0.674 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 244 0 0 130 39 23.0769 RNF17 0 genome.wustl.edu 37 13 25448299 25448299 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 25448299 25448299 A G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.4495 p.K1499E 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 174 0 0 118 20 14.4928 SHISA2 0 genome.wustl.edu 37 13 26621066 26621066 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 26621066 26621066 T C SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.473 p.N158S 0.005 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 85 0 0 53 8 13.1148 GPR12 0 genome.wustl.edu 37 13 27332961 27332961 + Nonstop_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 27332961 27332961 T C SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known nonstop c.1004 p.*335W 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 55 0 0 26 7 21.2121 MTIF3 0 genome.wustl.edu 37 13 28014141 28014141 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 28014141 28014141 C A SNP MTIF3 ENST00000381116 human ensembl 74_37 -1 known missense c.445 p.A149S 1.000 NULL pfam_Translation_initiation_fac_3_C,pfam_Translation_initiation_fac_3_N,superfamily_Translation_initiation_fac_3_C,superfamily_Translation_initiation_fac_3_N - no_errors MTIF3 HGNC ENSG00000122033 84 0 0 72 18 20 FLT3 0 genome.wustl.edu 37 13 28610120 28610120 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 28610120 28610120 T C SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.1370 p.Y457C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 461 2 0.431965 283 85 23.0978 FLT3 0 genome.wustl.edu 37 13 28611391 28611391 + Nonsense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 28611391 28611391 C A SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known nonsense c.1240 p.G414* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 242 0 0 156 38 19.5876 PAN3 0 genome.wustl.edu 37 13 28841299 28841299 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 28841299 28841299 T C SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known silent c.1641 p.N547 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 277 0 0 207 56 21.2928 PAN3 0 genome.wustl.edu 37 13 28862168 28862168 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 28862168 28862168 T C SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.2432 p.L811S 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 167 0 0 99 35 26.1194 FLT1 0 genome.wustl.edu 37 13 28896941 28896941 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 28896941 28896941 A G SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2939 p.V980A 0.029 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 250 0 0 192 28 12.7273 SLC46A3 0 genome.wustl.edu 37 13 29287455 29287455 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 29287455 29287455 C T SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.422 p.C141Y 0.850 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 125 0 0 108 17 13.6 USPL1 0 genome.wustl.edu 37 13 31232624 31232624 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 31232624 31232624 A G SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known missense c.2410 p.I804V 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 115 0 0 86 22 20.3704 HSPH1 0 genome.wustl.edu 37 13 31725327 31725327 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 31725327 31725327 A T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.671 p.V224E 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 152 1 0.653595 103 13 11.2069 RXFP2 0 genome.wustl.edu 37 13 32376343 32376343 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 32376343 32376343 T A SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.2066 p.I689N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 210 0 0 155 27 14.8352 EEF1DP3 0 genome.wustl.edu 37 13 32527178 32527178 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 32527178 32527178 A G SNP EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors EEF1DP3 HGNC ENSG00000229715 62 0 0 53 3 5.35714 FRY 0 genome.wustl.edu 37 13 32653054 32653054 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 32653054 32653054 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.154 p.L52 0.861 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 427 0 0 311 72 18.799 BRCA2 0 genome.wustl.edu 37 13 32913067 32913067 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 32913067 32913067 T C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.4575 p.H1525 0.945 pfam_BRCA2_repeat,pirsf_BRCA2,pfscan_BRCA2_repeat pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 164 0 0 130 33 20.2454 BRCA2 0 genome.wustl.edu 37 13 32913920 32913920 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 32913920 32913920 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.5428 p.V1810I 0.004 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 156 0 0 126 23 15.4362 BRCA2 0 genome.wustl.edu 37 13 32914557 32914557 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 32914557 32914557 C T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.6065 p.S2022L 0.105 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 188 0 0 132 38 22.3529 STARD13 0 genome.wustl.edu 37 13 33701537 33701537 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 33701537 33701537 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.1895 p.S632F 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 45 0 0 32 5 13.5135 RFC3 0 genome.wustl.edu 37 13 34410364 34410364 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 34410364 34410364 T C SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known missense c.1003 p.F335L 1.000 superfamily_DNA_pol3_clamp-load_cplx_C pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 322 0 0 256 62 19.4969 NBEA 0 genome.wustl.edu 37 13 35632906 35632906 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 35632906 35632906 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1145 p.V382A 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 25 0 0 14 5 26.3158 NBEA 0 genome.wustl.edu 37 13 35738555 35738555 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 35738555 35738555 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4142 p.N1381S 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 40 0 0 31 10 24.3902 NBEA 0 genome.wustl.edu 37 13 35782886 35782886 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 35782886 35782886 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.5416 p.T1806A 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 49 0 0 27 7 20.5882 CCNA1 0 genome.wustl.edu 37 13 37014180 37014180 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 37014180 37014180 A G SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.958 p.T320A 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 181 0 0 128 27 17.4194 POSTN 0 genome.wustl.edu 37 13 38153249 38153249 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 38153249 38153249 T C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1801 p.T601A 0.996 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 90 0 0 68 4 5.55556 FREM2 0 genome.wustl.edu 37 13 39263610 39263610 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 39263610 39263610 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.2129 p.R710H 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 90 0 0 53 18 25.3521 STOML3 0 genome.wustl.edu 37 13 39544433 39544433 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 39544433 39544433 A G SNP STOML3 ENST00000379631 human ensembl 74_37 -1 known silent c.405 p.D135 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 335 0 0 231 53 18.662 STOML3 0 genome.wustl.edu 37 13 39546706 39546706 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 39546706 39546706 T C SNP STOML3 ENST00000379631 human ensembl 74_37 -1 known missense c.255 p.I85M 0.672 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 317 0 0 226 52 18.705 KBTBD7 0 genome.wustl.edu 37 13 41766825 41766825 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 41766825 41766825 A G SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known silent c.1569 p.D523 0.991 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 229 0 0 166 46 21.6981 DNAJC15 0 genome.wustl.edu 37 13 43597777 43597777 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 43597777 43597777 T C SNP DNAJC15 ENST00000379221 human ensembl 74_37 +1 known silent c.15 p.G5 0.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC15 HGNC ENSG00000120675 27 0 0 7 2 22.2222 LACC1 0 genome.wustl.edu 37 13 44463029 44463029 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 44463029 44463029 A G SNP LACC1 ENST00000325686 human ensembl 74_37 +1 known silent c.1044 p.E348 0.996 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 365 0 0 237 55 18.8356 KCTD4 0 genome.wustl.edu 37 13 45768415 45768415 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 45768415 45768415 T C SNP KCTD4 ENST00000379108 human ensembl 74_37 -1 known silent c.288 p.G96 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC ENSG00000180332 254 0 0 191 57 22.9839 ZC3H13 0 genome.wustl.edu 37 13 46541688 46541688 + Silent SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 46541688 46541688 C G SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known silent c.4272 p.V1424 0.018 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 325 0 0 221 43 16.2879 ZC3H13 0 genome.wustl.edu 37 13 46544099 46544099 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 46544099 46544099 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known silent c.2580 p.K860 0.997 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 259 1 0.384615 179 52 22.5108 RB1 0 genome.wustl.edu 37 13 48919305 48919305 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 48919305 48919305 T C SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.470 p.V157A 0.997 pfam_RB_N pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 243 0 0 174 40 18.6916 FNDC3A 0 genome.wustl.edu 37 13 49580394 49580394 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 49580394 49580394 C T SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.68 p.A23V 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 126 0 0 70 20 22.2222 FAM124A 0 genome.wustl.edu 37 13 51826294 51826294 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 51826294 51826294 G A SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.899 p.R300H 1.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 52 0 0 42 9 17.6471 ATP7B 0 genome.wustl.edu 37 13 52548584 52548584 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 52548584 52548584 T C SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.772 p.T258A 0.039 superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 238 0 0 175 42 19.3548 CKAP2 0 genome.wustl.edu 37 13 53035683 53035683 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 53035683 53035683 T C SNP CKAP2 ENST00000378037 human ensembl 74_37 +1 known missense c.725 p.F242S 0.000 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 134 0 0 91 22 19.469 PCDH17 0 genome.wustl.edu 37 13 58299162 58299162 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 58299162 58299162 T C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.3214 p.L1072 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 177 0 0 134 34 20.2381 DACH1 0 genome.wustl.edu 37 13 72053400 72053400 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 72053400 72053400 C T SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.1933 p.V645I 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 228 0 0 164 27 14.1361 DIS3 0 genome.wustl.edu 37 13 73349347 73349347 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 73349347 73349347 A G SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known splice_site c.987+2 e6+2 1.000 - - - no_errors DIS3 HGNC ENSG00000083520 182 0 0 128 28 17.9487 PIBF1 0 genome.wustl.edu 37 13 73357645 73357645 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 73357645 73357645 A G SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.38 p.N13S 0.997 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 124 0 0 121 9 6.92308 COMMD6 0 genome.wustl.edu 37 13 76100731 76100731 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 76100731 76100731 C T SNP COMMD6 ENST00000355801 human ensembl 74_37 -1 known silent c.291 p.T97 0.994 NULL pfam_HCaRG - no_errors COMMD6 HGNC ENSG00000188243 335 0 0 217 55 20.2206 FBXL3 0 genome.wustl.edu 37 13 77581883 77581883 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 77581883 77581883 T C SNP FBXL3 ENST00000355619 human ensembl 74_37 -1 known silent c.684 p.E228 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 128 0 0 99 31 23.8462 FBXL3 0 genome.wustl.edu 37 13 77592813 77592813 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 77592813 77592813 T C SNP FBXL3 ENST00000355619 human ensembl 74_37 -1 known silent c.393 p.L131 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 158 0 0 119 35 22.7273 EDNRB 0 genome.wustl.edu 37 13 78475265 78475265 + Nonsense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 78475265 78475265 A C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known nonsense c.879 p.Y293* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 190 0 0 108 31 22.3022 POU4F1 0 genome.wustl.edu 37 13 79175650 79175650 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 79175650 79175650 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known missense c.1160 p.A387V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 85 0 0 64 16 20 SLITRK6 0 genome.wustl.edu 37 13 86368224 86368224 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 86368224 86368224 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.2420 p.R807H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 289 0 0 198 38 16.1017 SLITRK5 0 genome.wustl.edu 37 13 88329969 88329969 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 88329969 88329969 T C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2326 p.Y776H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 77 0 0 47 19 28.7879 SLITRK5 0 genome.wustl.edu 37 13 88330275 88330275 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 88330275 88330275 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2632 p.P878S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 92 0 0 65 18 21.6867 GPC5 0 genome.wustl.edu 37 13 92051382 92051382 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 92051382 92051382 C T SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known nonsense c.82 p.Q28* 0.793 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 21 0 0 9 6 40 DCT 0 genome.wustl.edu 37 13 95131364 95131364 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 95131364 95131364 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.146 p.A49V 0.045 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 73 0 0 57 25 30.4878 TGDS 0 genome.wustl.edu 37 13 95230367 95230367 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 95230367 95230367 T C SNP TGDS ENST00000261296 human ensembl 74_37 -1 known silent c.717 p.V239 0.743 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 116 0 0 94 14 12.963 TGDS 0 genome.wustl.edu 37 13 95243105 95243105 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 95243105 95243105 A G SNP TGDS ENST00000261296 human ensembl 74_37 -1 known splice_site c.313+2 e4+2 1.000 - - - no_errors TGDS HGNC ENSG00000088451 281 0 0 173 28 13.9303 ABCC4 0 genome.wustl.edu 37 13 95695936 95695936 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 95695936 95695936 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.3735 p.M1245I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 146 0 0 102 10 8.92857 DNAJC3 0 genome.wustl.edu 37 13 96361576 96361576 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 96361576 96361576 T C SNP DNAJC3 ENST00000602402 human ensembl 74_37 +1 known missense c.178 p.F60L 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC3 HGNC ENSG00000102580 117 0 0 90 15 14.2857 FARP1 0 genome.wustl.edu 37 13 99020379 99020379 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 99020379 99020379 C T SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.328 p.H110Y 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 126 0 0 73 15 17.0455 SLC15A1 0 genome.wustl.edu 37 13 99337071 99337071 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 99337071 99337071 G A SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known silent c.2034 p.I678 0.966 superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 93 0 0 74 16 17.7778 EML1 0 genome.wustl.edu 37 14 100377888 100377888 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 100377888 100377888 A G SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1526 p.N509S 1.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 121 0 0 97 26 21.1382 DYNC1H1 0 genome.wustl.edu 37 14 102442075 102442075 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 102442075 102442075 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.283 p.E95K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 113 0 0 75 11 12.7907 DYNC1H1 0 genome.wustl.edu 37 14 102494083 102494083 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 102494083 102494083 T C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.9176 p.I3059T 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 182 0 0 149 25 14.3678 MOK 0 genome.wustl.edu 37 14 102695953 102695953 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 102695953 102695953 T C SNP MOK ENST00000519058 human ensembl 74_37 -1 putative missense c.106 p.R36G 0.000 NULL NULL - no_errors MOK HGNC ENSG00000080823 89 0 0 77 20 20.6186 RCOR1 0 genome.wustl.edu 37 14 103187412 103187412 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 103187412 103187412 A G SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known silent c.1122 p.R374 0.992 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 310 0 0 226 55 19.573 CDC42BPB 0 genome.wustl.edu 37 14 103404718 103404718 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 103404718 103404718 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.4858 p.P1620S 0.423 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 99 0 0 68 14 17.0732 EXOC3L4 0 genome.wustl.edu 37 14 103566731 103566731 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 103566731 103566731 C T SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.175 p.R59W 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 22 0 0 12 5 29.4118 TDRD9 0 genome.wustl.edu 37 14 104457499 104457499 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 104457499 104457499 A G SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.1118 p.N373S 0.514 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 90 0 0 65 6 8.4507 INF2 0 genome.wustl.edu 37 14 105167842 105167842 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105167842 105167842 T C SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.140 p.V47A 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 15 0 0 10 3 23.0769 INF2 0 genome.wustl.edu 37 14 105169688 105169688 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105169688 105169688 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.564 p.S188 0.266 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 149 0 0 93 19 16.9643 AKT1 0 genome.wustl.edu 37 14 105241992 105241992 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105241992 105241992 G A SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known silent c.432 p.R144 0.978 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 106 0 0 55 18 24.6575 CEP170B 0 genome.wustl.edu 37 14 105353833 105353833 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105353833 105353833 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.3260 p.P1087L 0.060 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 27 0 0 24 2 7.69231 CEP170B 0 genome.wustl.edu 37 14 105360905 105360905 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105360905 105360905 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.4505 p.R1502Q 0.898 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 33 0 0 24 5 17.2414 AHNAK2 0 genome.wustl.edu 37 14 105408451 105408451 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105408451 105408451 T A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.13337 p.E4446V 0.006 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 324 0 0 204 43 17.4089 AHNAK2 0 genome.wustl.edu 37 14 105409290 105409290 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105409290 105409290 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.12498 p.D4166 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 419 0 0 316 81 20.403 AHNAK2 0 genome.wustl.edu 37 14 105409652 105409652 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105409652 105409652 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12136 p.S4046G 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 324 1 0.307692 271 34 11.1475 AHNAK2 0 genome.wustl.edu 37 14 105409662 105409662 + Silent SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105409662 105409662 G C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.12126 p.P4042 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 266 2 0.746269 228 36 13.6364 AHNAK2 0 genome.wustl.edu 37 14 105413724 105413724 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105413724 105413724 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.8064 p.Q2688 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 307 0 0 231 47 16.9065 AHNAK2 0 genome.wustl.edu 37 14 105413744 105413744 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105413744 105413744 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8044 p.M2682V 0.002 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 313 0 0 212 29 12.0332 AHNAK2 0 genome.wustl.edu 37 14 105413755 105413755 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105413755 105413755 A G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8033 p.V2678A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 283 2 0.701754 208 29 12.2363 AHNAK2 0 genome.wustl.edu 37 14 105413813 105413813 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105413813 105413813 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7975 p.R2659G 0.004 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 456 1 0.218818 293 48 14.0762 JAG2 0 genome.wustl.edu 37 14 105609264 105609264 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105609264 105609264 T C SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.3485 p.D1162G 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 20 0 0 6 5 45.4545 PACS2 0 genome.wustl.edu 37 14 105843171 105843171 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105843171 105843171 T C SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.868 p.Y290H 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 68 0 0 68 17 20 MTA1 0 genome.wustl.edu 37 14 105927257 105927257 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105927257 105927257 T C SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known silent c.909 p.Y303 0.840 superfamily_Homeodomain-like,smart_SANT/Myb pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 52 0 0 49 11 18.3333 OR4K2 0 genome.wustl.edu 37 14 20344705 20344705 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 20344705 20344705 T A SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known silent c.279 p.S93 0.208 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 623 0 0 466 76 14.0221 OR4K17 0 genome.wustl.edu 37 14 20586234 20586234 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 20586234 20586234 A G SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.669 p.I223M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 446 0 0 359 76 17.4713 CCNB1IP1 0 genome.wustl.edu 37 14 20781885 20781885 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 20781885 20781885 A G SNP CCNB1IP1 ENST00000353689 human ensembl 74_37 -1 known missense c.373 p.Y125H 0.975 NULL NULL - no_errors CCNB1IP1 HGNC ENSG00000100814 160 0 0 88 30 25.4237 PARP2 0 genome.wustl.edu 37 14 20813565 20813565 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 20813565 20813565 C T SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.254 p.A85V 0.982 superfamily_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 97 0 0 73 14 16.092 APEX1 0 genome.wustl.edu 37 14 20923812 20923812 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 20923812 20923812 A G SNP APEX1 ENST00000216714 human ensembl 74_37 +1 known missense c.8 p.K3R 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX1 HGNC ENSG00000100823 171 0 0 118 15 11.2782 RNASE9 0 genome.wustl.edu 37 14 21025069 21025069 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21025069 21025069 T C SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known missense c.160 p.T54A 0.001 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 292 0 0 178 50 21.9298 METTL17 0 genome.wustl.edu 37 14 21460342 21460342 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21460342 21460342 A G SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.424 p.T142A 1.000 NULL pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 119 0 0 71 17 19.3182 RNASE13 0 genome.wustl.edu 37 14 21502245 21502245 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21502245 21502245 C T SNP RNASE13 ENST00000382951 human ensembl 74_37 -1 known missense c.203 p.C68Y 0.986 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE13 HGNC ENSG00000206150 173 0 0 115 35 23.3333 RPGRIP1 0 genome.wustl.edu 37 14 21771652 21771652 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21771652 21771652 T C SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known silent c.750 p.N250 0.002 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 107 0 0 76 7 8.43373 SUPT16H 0 genome.wustl.edu 37 14 21831045 21831045 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21831045 21831045 G A SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known missense c.1573 p.R525W 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 262 0 0 197 56 22.1344 RAB2B 0 genome.wustl.edu 37 14 21931909 21931909 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21931909 21931909 C A SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known missense c.380 p.R127M 0.999 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB2B HGNC ENSG00000129472 210 0 0 148 23 13.4503 ABHD4 0 genome.wustl.edu 37 14 23072501 23072501 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23072501 23072501 C T SNP ABHD4 ENST00000428304 human ensembl 74_37 +1 known nonsense c.319 p.R107* 0.951 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD4 HGNC ENSG00000100439 84 0 0 56 14 20 REM2 0 genome.wustl.edu 37 14 23354218 23354218 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23354218 23354218 A C SNP REM2 ENST00000267396 human ensembl 74_37 +1 known missense c.439 p.N147H 0.981 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase - no_errors REM2 HGNC ENSG00000139890 49 0 0 42 3 6.66667 CDH24 0 genome.wustl.edu 37 14 23519067 23519067 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23519067 23519067 G A SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known silent c.1563 p.Y521 0.679 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 62 0 0 42 13 23.6364 ACIN1 0 genome.wustl.edu 37 14 23549358 23549358 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23549358 23549358 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.1360 p.P454S 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 162 0 0 127 23 15.3333 EFS 0 genome.wustl.edu 37 14 23828545 23828545 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23828545 23828545 T C SNP EFS ENST00000216733 human ensembl 74_37 -1 known missense c.1142 p.Y381C 0.982 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 245 0 0 196 40 16.9492 MYH7 0 genome.wustl.edu 37 14 23885260 23885260 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23885260 23885260 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4906 p.A1636T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 117 0 0 78 17 17.8947 NGDN 0 genome.wustl.edu 37 14 23946446 23946446 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 23946446 23946446 G A SNP NGDN ENST00000408901 human ensembl 74_37 +1 known missense c.751 p.V251I 1.000 NULL pfam_Sas10/Utp3/C1D - no_errors NGDN HGNC ENSG00000129460 101 0 0 79 31 28.1818 CPNE6 0 genome.wustl.edu 37 14 24542843 24542843 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24542843 24542843 C T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known nonsense c.469 p.R157* 0.017 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 100 0 0 68 14 17.0732 DCAF11 0 genome.wustl.edu 37 14 24588368 24588368 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24588368 24588368 G A SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.794 p.R265H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 354 0 0 245 64 20.712 IRF9 0 genome.wustl.edu 37 14 24634066 24634066 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24634066 24634066 T C SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known missense c.893 p.I298T 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 94 0 0 82 22 21.1538 GMPR2 0 genome.wustl.edu 37 14 24707913 24707913 + Nonsense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24707913 24707913 G T SNP GMPR2 ENST00000348719 human ensembl 74_37 +1 known nonsense c.1159 p.E387* 1.000 pfam_IMP_DH_GMPRt pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1 - no_errors GMPR2 HGNC ENSG00000100938 147 0 0 94 35 27.1318 TGM1 0 genome.wustl.edu 37 14 24723893 24723893 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24723893 24723893 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.2065 p.R689C 0.611 superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 131 0 0 82 20 19.6078 TGM1 0 genome.wustl.edu 37 14 24729876 24729876 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24729876 24729876 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.537 p.T179 0.998 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 118 0 0 80 24 23.0769 NOP9 0 genome.wustl.edu 37 14 24773340 24773340 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 24773340 24773340 G A SNP NOP9 ENST00000267425 human ensembl 74_37 +1 known missense c.1504 p.V502I 0.181 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 98 0 0 77 11 12.5 FOXG1 0 genome.wustl.edu 37 14 29237117 29237117 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 29237117 29237117 T C SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.632 p.I211T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 43 0 0 41 9 18 FOXG1 0 genome.wustl.edu 37 14 29237605 29237605 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 29237605 29237605 T C SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1120 p.Y374H 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 71 0 0 38 6 13.6364 PRKD1 0 genome.wustl.edu 37 14 30066890 30066890 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 30066890 30066890 G A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2241 p.P747 0.856 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 149 0 0 112 28 20 HECTD1 0 genome.wustl.edu 37 14 31597063 31597063 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 31597063 31597063 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.4909 p.T1637A 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 187 0 0 172 31 15.2709 HECTD1 0 genome.wustl.edu 37 14 31597105 31597105 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 31597105 31597105 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.4867 p.T1623A 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 200 0 0 156 35 18.3246 HECTD1 0 genome.wustl.edu 37 14 31598572 31598572 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 31598572 31598572 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known silent c.4005 p.A1335 1.000 pfam_Mib_Herc2 pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 174 0 0 113 32 22.069 HECTD1 0 genome.wustl.edu 37 14 31605831 31605831 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 31605831 31605831 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.3020 p.P1007L 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 194 0 0 140 38 21.3483 ARHGAP5 0 genome.wustl.edu 37 14 32562839 32562839 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 32562839 32562839 A G SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known silent c.2964 p.P988 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 234 0 0 206 28 11.9658 AKAP6 0 genome.wustl.edu 37 14 33005003 33005003 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 33005003 33005003 A G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.568 p.T190A 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 127 1 0.78125 101 20 16.5289 AKAP6 0 genome.wustl.edu 37 14 33015103 33015103 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 33015103 33015103 T C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.1244 p.V415A 0.027 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 381 0 0 262 59 18.3801 PPP2R3C 0 genome.wustl.edu 37 14 35577396 35577396 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 35577396 35577396 A G SNP PPP2R3C ENST00000261475 human ensembl 74_37 -1 known missense c.451 p.S151P 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 233 0 0 182 48 20.8696 INSM2 0 genome.wustl.edu 37 14 36004894 36004894 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 36004894 36004894 T C SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known missense c.1436 p.F479S 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 94 0 0 81 18 18.1818 CTAGE5 0 genome.wustl.edu 37 14 39782647 39782647 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 39782647 39782647 T C SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known splice_site c.1310+2 e14+2 1.000 - - - no_errors CTAGE5 HGNC ENSG00000150527 117 0 0 72 9 11.1111 C14orf28 0 genome.wustl.edu 37 14 45370048 45370048 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 45370048 45370048 A G SNP C14orf28 ENST00000325192 human ensembl 74_37 +1 known missense c.410 p.D137G 1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 113 0 0 75 18 19.3548 FAM179B 0 genome.wustl.edu 37 14 45542710 45542710 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 45542710 45542710 T C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.5109 p.H1703 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 109 0 0 86 5 5.49451 FKBP3 0 genome.wustl.edu 37 14 45590703 45590703 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 45590703 45590703 T C SNP FKBP3 ENST00000216330 human ensembl 74_37 -1 known missense c.439 p.T147A 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP3 HGNC ENSG00000100442 149 0 0 90 25 21.7391 FANCM 0 genome.wustl.edu 37 14 45636264 45636264 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 45636264 45636264 A G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.1900 p.N634D 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 313 0 0 228 57 20 KLHDC1 0 genome.wustl.edu 37 14 50195672 50195672 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 50195672 50195672 C T SNP KLHDC1 ENST00000359332 human ensembl 74_37 +1 known missense c.596 p.A199V 0.996 pfam_Kelch_2,superfamily_Gal_Oxase/kelch_b-propeller pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC1 HGNC ENSG00000197776 152 0 0 123 24 16.3265 KLHDC2 0 genome.wustl.edu 37 14 50246358 50246358 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 50246358 50246358 G A SNP KLHDC2 ENST00000298307 human ensembl 74_37 +1 known missense c.679 p.G227R 1.000 pfam_Kelch_2 pfam_Kelch_2 - no_errors KLHDC2 HGNC ENSG00000165516 83 0 0 60 21 25.9259 ATP5S 0 genome.wustl.edu 37 14 50788253 50788253 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 50788253 50788253 A G SNP ATP5S ENST00000311459 human ensembl 74_37 +1 known silent c.93 p.K31 0.996 NULL NULL - no_errors ATP5S HGNC ENSG00000125375 138 1 0.719424 95 23 19.4915 NID2 0 genome.wustl.edu 37 14 52520419 52520419 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 52520419 52520419 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.1307 p.P436L 0.000 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 181 0 0 121 29 19.3333 PTGDR 0 genome.wustl.edu 37 14 52735128 52735128 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 52735128 52735128 A G SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known missense c.596 p.Y199C 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 87 0 0 73 17 18.8889 GPR137C 0 genome.wustl.edu 37 14 53101670 53101670 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 53101670 53101670 A G SNP GPR137C ENST00000321662 human ensembl 74_37 +1 known missense c.1127 p.Q376R 0.996 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 115 0 0 86 14 14 FERMT2 0 genome.wustl.edu 37 14 53325164 53325164 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 53325164 53325164 T C SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known silent c.1995 p.T665 0.964 NULL pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 140 0 0 102 33 24.4444 BMP4 0 genome.wustl.edu 37 14 54416799 54416799 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 54416799 54416799 A G SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.1178 p.V393A 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 113 0 0 79 23 22.549 CGRRF1 0 genome.wustl.edu 37 14 54976688 54976688 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 54976688 54976688 T C SNP CGRRF1 ENST00000216420 human ensembl 74_37 +1 known missense c.11 p.V4A 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 134 0 0 106 15 12.3967 WDHD1 0 genome.wustl.edu 37 14 55434067 55434067 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 55434067 55434067 G A SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known silent c.2109 p.R703 0.946 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 154 0 0 109 25 18.6567 EXOC5 0 genome.wustl.edu 37 14 57700561 57700561 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 57700561 57700561 A G SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known missense c.755 p.I252T 0.996 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 227 0 0 167 32 16.0804 NAA30 0 genome.wustl.edu 37 14 57863507 57863507 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 57863507 57863507 G A SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known missense c.809 p.C270Y 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 189 0 0 126 46 26.7442 SLC35F4 0 genome.wustl.edu 37 14 58056071 58056071 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 58056071 58056071 T C SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known silent c.558 p.K186 1.000 NULL pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 93 0 0 70 10 12.5 DACT1 0 genome.wustl.edu 37 14 59112667 59112667 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 59112667 59112667 C T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.1326 p.G442 0.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 63 0 0 60 9 13.0435 DAAM1 0 genome.wustl.edu 37 14 59814284 59814284 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 59814284 59814284 A G SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known silent c.2133 p.K711 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 50 0 0 31 5 13.8889 GPR135 0 genome.wustl.edu 37 14 59930515 59930515 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 59930515 59930515 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.1430 p.P477L 0.012 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 61 0 0 38 10 20.8333 GPR135 0 genome.wustl.edu 37 14 59930686 59930686 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 59930686 59930686 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.1259 p.P420L 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 35 0 0 16 10 38.4615 JKAMP 0 genome.wustl.edu 37 14 59961870 59961870 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 59961870 59961870 A G SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.410 p.Y137C 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 135 0 0 98 29 22.8346 RTN1 0 genome.wustl.edu 37 14 60212668 60212668 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 60212668 60212668 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.773 p.S258F 0.830 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 421 0 0 289 64 18.1303 SIX4 0 genome.wustl.edu 37 14 61186582 61186582 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 61186582 61186582 C A SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known missense c.1445 p.G482V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 264 0 0 198 44 18.1818 HIF1A 0 genome.wustl.edu 37 14 62188501 62188501 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 62188501 62188501 T C SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known silent c.489 p.C163 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 104 0 0 77 23 23 SYNE2 0 genome.wustl.edu 37 14 64591849 64591849 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 64591849 64591849 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.13475 p.Y4492C 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 131 0 0 96 34 26.1538 ZBTB1 0 genome.wustl.edu 37 14 64988891 64988891 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 64988891 64988891 T C SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known silent c.669 p.F223 1.000 smart_Znf_C2H2-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 224 0 0 143 38 20.9945 SPTB 0 genome.wustl.edu 37 14 65260381 65260381 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 65260381 65260381 T C SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2000 p.K667R 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 114 0 0 83 11 11.7021 RAB15 0 genome.wustl.edu 37 14 65418332 65418332 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 65418332 65418332 G A SNP RAB15 ENST00000533601 human ensembl 74_37 -1 known missense c.235 p.R79W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB15 HGNC ENSG00000139998 167 0 0 119 35 22.7273 ZFYVE26 0 genome.wustl.edu 37 14 68250106 68250106 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 68250106 68250106 T C SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.3763 p.T1255A 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 194 0 0 128 32 20 RAD51B 0 genome.wustl.edu 37 14 68353896 68353896 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 68353896 68353896 A G SNP RAD51B ENST00000487270 human ensembl 74_37 +1 known missense c.731 p.Y244C 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 137 0 0 93 23 19.8276 SIPA1L1 0 genome.wustl.edu 37 14 72056089 72056089 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 72056089 72056089 T C SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known splice_site c.1498+2 e1+2 1.000 - - - no_errors SIPA1L1 HGNC ENSG00000197555 110 0 0 79 15 15.9574 SIPA1L1 0 genome.wustl.edu 37 14 72202057 72202057 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 72202057 72202057 A G SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.5135 p.N1712S 0.783 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 250 0 0 183 41 18.3036 RGS6 0 genome.wustl.edu 37 14 72985085 72985085 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 72985085 72985085 A C SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1118 p.K373T 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 84 0 0 57 24 29.6296 RGS6 0 genome.wustl.edu 37 14 73002943 73002943 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 73002943 73002943 G A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1328 p.R443Q 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 247 1 0.403226 175 33 15.8654 RBM25 0 genome.wustl.edu 37 14 73544179 73544179 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 73544179 73544179 A G SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.259 p.T87A 1.000 pfscan_RRM_dom pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 108 0 0 74 26 26 PAPLN 0 genome.wustl.edu 37 14 73718794 73718794 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 73718794 73718794 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.912 p.P304 0.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 24 0 0 19 6 24 PAPLN 0 genome.wustl.edu 37 14 73729153 73729153 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 73729153 73729153 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2341 p.R781C 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 33 0 0 30 9 23.0769 HEATR4 0 genome.wustl.edu 37 14 73967394 73967394 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 73967394 73967394 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.2146 p.A716T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 133 0 0 93 23 19.8276 ELMSAN1 0 genome.wustl.edu 37 14 74206530 74206530 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 74206530 74206530 G T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.182 p.P61H 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 101 0 0 79 23 22.549 ABCD4 0 genome.wustl.edu 37 14 74754962 74754962 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 74754962 74754962 A G SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.1507 p.S503P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD4 HGNC ENSG00000119688 32 0 0 23 9 28.125 ABCD4 0 genome.wustl.edu 37 14 74757053 74757053 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 74757053 74757053 G A SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.1268 p.T423M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD4 HGNC ENSG00000119688 228 0 0 155 56 26.5403 YLPM1 0 genome.wustl.edu 37 14 75230218 75230218 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 75230218 75230218 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.26 p.G9D 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 21 0 0 16 6 27.2727 YLPM1 0 genome.wustl.edu 37 14 75265004 75265004 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 75265004 75265004 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.3004 p.R1002W 0.394 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 95 0 0 66 18 21.4286 MLH3 0 genome.wustl.edu 37 14 75515935 75515935 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 75515935 75515935 C T SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.424 p.A142T 0.806 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 249 0 0 182 45 19.8238 BATF 0 genome.wustl.edu 37 14 76012903 76012903 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 76012903 76012903 C T SNP BATF ENST00000286639 human ensembl 74_37 +1 known silent c.267 p.H89 0.992 pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 29 0 0 18 10 35.7143 FLVCR2 0 genome.wustl.edu 37 14 76088483 76088483 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 76088483 76088483 A G SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.731 p.D244G 0.971 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 324 2 0.613497 223 49 18.0147 TGFB3 0 genome.wustl.edu 37 14 76427332 76427332 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 76427332 76427332 G T SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known silent c.1014 p.G338 0.995 pirsf_TGF-beta,pfam_TGF-b_C,smart_TGF-b_C pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 154 0 0 102 34 25 GPATCH2L 0 genome.wustl.edu 37 14 76668165 76668165 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 76668165 76668165 C A SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known missense c.1420 p.P474T 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 212 0 0 160 27 14.4385 POMT2 0 genome.wustl.edu 37 14 77751306 77751306 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 77751306 77751306 A G SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known silent c.1563 p.H521 0.977 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 94 0 0 76 21 21.6495 VIPAS39 0 genome.wustl.edu 37 14 77900221 77900221 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 77900221 77900221 T C SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known silent c.1143 p.R381 0.981 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 115 0 0 87 19 17.9245 ISM2 0 genome.wustl.edu 37 14 77951099 77951099 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 77951099 77951099 A G SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.305 p.V102A 0.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 80 0 0 60 15 20 NRXN3 0 genome.wustl.edu 37 14 79432495 79432495 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 79432495 79432495 T C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.2490 p.N830 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 107 0 0 74 19 20.4301 NRXN3 0 genome.wustl.edu 37 14 79432705 79432705 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 79432705 79432705 T C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.2700 p.N900 0.984 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 287 0 0 196 56 22.2222 NRXN3 0 genome.wustl.edu 37 14 80328021 80328021 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 80328021 80328021 C T SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known missense c.2900 p.P967L 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 68 0 0 51 15 22.7273 CEP128 0 genome.wustl.edu 37 14 81259277 81259277 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 81259277 81259277 T C SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.1387 p.S463G 0.018 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 220 0 0 163 43 20.8738 PTPN21 0 genome.wustl.edu 37 14 88946106 88946106 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 88946106 88946106 T C SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1669 p.I557V 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 25 0 0 12 5 29.4118 EML5 0 genome.wustl.edu 37 14 89091363 89091363 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 89091363 89091363 A G SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.4849 p.Y1617H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 73 0 0 52 15 22.3881 FBLN5 0 genome.wustl.edu 37 14 92403440 92403440 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 92403440 92403440 C T SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known missense c.230 p.R77Q 0.995 smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 91 0 0 60 17 22.0779 TRIP11 0 genome.wustl.edu 37 14 92436177 92436177 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 92436177 92436177 G A SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.5780 p.S1927L 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 97 0 0 54 16 22.8571 ATXN3 0 genome.wustl.edu 37 14 92560124 92560124 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 92560124 92560124 T C SNP ATXN3 ENST00000545170 human ensembl 74_37 -1 known missense c.286 p.S96G 1.000 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3 HGNC ENSG00000066427 184 0 0 113 33 22.6027 SLC24A4 0 genome.wustl.edu 37 14 92909143 92909143 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 92909143 92909143 G A SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.565 p.G189R 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 102 0 0 66 13 16.4557 GOLGA5 0 genome.wustl.edu 37 14 93282672 93282672 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 93282672 93282672 T C SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known missense c.1397 p.M466T 0.996 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 204 0 0 153 29 15.9341 CHGA 0 genome.wustl.edu 37 14 93398722 93398722 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 93398722 93398722 G A SNP CHGA ENST00000216492 human ensembl 74_37 +1 known silent c.816 p.S272 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 8 0 0 10 3 23.0769 UNC79 0 genome.wustl.edu 37 14 94088327 94088327 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 94088327 94088327 T C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.4814 p.L1605S 0.998 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 158 0 0 104 29 21.8045 FAM181A 0 genome.wustl.edu 37 14 94395058 94395058 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 94395058 94395058 C T SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known missense c.613 p.P205S 1.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 48 0 0 38 6 13.6364 SERPINA12 0 genome.wustl.edu 37 14 94964479 94964479 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 94964479 94964479 G A SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known silent c.256 p.L86 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 174 0 0 136 39 22.2857 SERPINA12 0 genome.wustl.edu 37 14 94964535 94964535 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 94964535 94964535 T C SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known missense c.200 p.N67S 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 220 0 0 165 40 19.5122 ATG2B 0 genome.wustl.edu 37 14 96752298 96752298 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 96752298 96752298 T C SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.6031 p.I2011V 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 69 0 0 50 8 13.7931 ATG2B 0 genome.wustl.edu 37 14 96769566 96769566 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 96769566 96769566 C T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.4869 p.P1623 0.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 91 0 0 84 14 14.2857 ATG2B 0 genome.wustl.edu 37 14 96811655 96811655 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 96811655 96811655 A G SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.393 p.C131 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 112 0 0 66 23 25.8427 DNM1P46 0 genome.wustl.edu 37 15 100339850 100339850 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 100339850 100339850 T C SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DNM1P46 HGNC ENSG00000182397 21 0 0 24 9 27.2727 ADAMTS17 0 genome.wustl.edu 37 15 100589167 100589167 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 100589167 100589167 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.2486 p.R829Q 0.093 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 146 0 0 99 23 18.8525 LRRK1 0 genome.wustl.edu 37 15 101606897 101606897 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 101606897 101606897 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.5821 p.R1941W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 342 0 0 220 46 17.2932 PCSK6 0 genome.wustl.edu 37 15 101924598 101924598 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 101924598 101924598 A C SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.1340 p.L447R 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 37 0 0 25 4 13.7931 PCSK6 0 genome.wustl.edu 37 15 101933449 101933449 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 101933449 101933449 A G SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.1174 p.Y392H 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 37 0 0 24 5 17.2414 PCSK6 0 genome.wustl.edu 37 15 101938635 101938635 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 101938635 101938635 G A SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known nonsense c.967 p.Q323* 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 147 1 0.675676 124 32 20.5128 TARSL2 0 genome.wustl.edu 37 15 102197159 102197159 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 102197159 102197159 T C SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known silent c.2226 p.R742 0.973 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 90 0 0 68 19 21.8391 OR4F6 0 genome.wustl.edu 37 15 102346378 102346378 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 102346378 102346378 T C SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known silent c.456 p.G152 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 602 0 0 415 115 21.6981 OR4M2 0 genome.wustl.edu 37 15 22368607 22368607 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 22368607 22368607 A G SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.32 p.E11G 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 766 0 0 541 55 9.22819 OR4M2 0 genome.wustl.edu 37 15 22368757 22368757 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 22368757 22368757 T A SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.182 p.F61Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 1391 0 0 1047 110 9.50735 CYFIP1 0 genome.wustl.edu 37 15 22956392 22956392 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 22956392 22956392 A G SNP CYFIP1 ENST00000435939 human ensembl 74_37 +1 known silent c.336 p.V112 0.993 NULL pfam_Cytoplasmic_FMR1-int,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 146 0 0 107 25 18.9394 NIPA1 0 genome.wustl.edu 37 15 23049143 23049143 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 23049143 23049143 C T SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.676 p.A226T 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 85 0 0 63 18 22.2222 NIPA1 0 genome.wustl.edu 37 15 23049189 23049189 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 23049189 23049189 C T SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known silent c.630 p.G210 0.997 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 88 0 0 64 8 11.1111 NDN 0 genome.wustl.edu 37 15 23932183 23932183 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 23932183 23932183 G A SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.182 p.P61L 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 9 0 0 6 4 40 NPAP1 0 genome.wustl.edu 37 15 24921511 24921511 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 24921511 24921511 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.497 p.P166L 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 76 0 0 55 6 9.83607 NPAP1 0 genome.wustl.edu 37 15 24922752 24922752 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 24922752 24922752 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1738 p.T580A 0.052 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 197 0 0 144 39 21.3115 SNORD116-29 0 genome.wustl.edu 37 15 25351699 25351699 + RNA SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 25351699 25351699 T G SNP SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors SNORD116-29 HGNC ENSG00000207245 127 0 0 78 22 22 SNHG14 0 genome.wustl.edu 37 15 25442649 25442649 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 25442649 25442649 C T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 192 0 0 130 29 18.239 SNHG14 0 genome.wustl.edu 37 15 25479259 25479259 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 25479259 25479259 C T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 45 0 0 35 3 7.89474 ATP10A 0 genome.wustl.edu 37 15 25940269 25940269 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 25940269 25940269 G C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2785 p.Q929E 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 151 0 0 104 15 12.605 OCA2 0 genome.wustl.edu 37 15 28235761 28235761 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 28235761 28235761 A G SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.1077 p.G359 0.008 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 240 1 0.414938 180 33 15.493 HERC2 0 genome.wustl.edu 37 15 28358381 28358381 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 28358381 28358381 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.14068 p.T4690A 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 68 0 0 40 3 6.97674 HERC2 0 genome.wustl.edu 37 15 28446623 28446623 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 28446623 28446623 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.7695 p.V2565 0.981 pfam_CPH_domain pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 180 0 0 121 17 12.3188 HERC2 0 genome.wustl.edu 37 15 28447538 28447538 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 28447538 28447538 G C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7435 p.L2479V 0.940 superfamily_UBA-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 50 0 0 37 7 15.9091 HERC2 0 genome.wustl.edu 37 15 28474412 28474412 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 28474412 28474412 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5201 p.K1734R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 401 0 0 292 72 19.7802 HERC2 0 genome.wustl.edu 37 15 28478854 28478854 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 28478854 28478854 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.4307 p.V1436A 0.998 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 152 0 0 111 18 13.9535 FAN1 0 genome.wustl.edu 37 15 31197803 31197803 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 31197803 31197803 A G SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.937 p.K313E 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 82 0 0 42 15 26.3158 MTMR10 0 genome.wustl.edu 37 15 31247018 31247018 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 31247018 31247018 A G SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known silent c.1014 p.N338 0.870 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 30 0 0 15 4 21.0526 RYR3 0 genome.wustl.edu 37 15 33855130 33855130 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 33855130 33855130 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.1065 p.V355 0.963 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 145 0 0 100 31 23.6641 RYR3 0 genome.wustl.edu 37 15 34150099 34150099 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 34150099 34150099 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.14126 p.C4709Y 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 73 0 0 46 13 22.0339 LPCAT4 0 genome.wustl.edu 37 15 34657245 34657245 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 34657245 34657245 A G SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known missense c.442 p.S148P 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 121 0 0 68 15 18.0723 AQR 0 genome.wustl.edu 37 15 35189126 35189126 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 35189126 35189126 C T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.2432 p.R811H 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 98 0 0 70 20 22.2222 AQR 0 genome.wustl.edu 37 15 35207329 35207329 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 35207329 35207329 T C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.1394 p.Y465C 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 116 0 0 80 20 20 ZNF770 0 genome.wustl.edu 37 15 35275452 35275452 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 35275452 35275452 T C SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.184 p.K62E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 196 0 0 120 29 19.4631 MEIS2 0 genome.wustl.edu 37 15 37385877 37385877 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 37385877 37385877 T C SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.544 p.K182E 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 224 0 0 176 48 21.4286 RASGRP1 0 genome.wustl.edu 37 15 38786879 38786879 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 38786879 38786879 C T SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.1963 p.V655M 0.980 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 26 0 0 16 4 20 FSIP1 0 genome.wustl.edu 37 15 39893115 39893115 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 39893115 39893115 G C SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.1712 p.T571S 0.088 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 209 0 0 127 38 23.0303 FSIP1 0 genome.wustl.edu 37 15 40034063 40034063 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 40034063 40034063 A G SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.598 p.F200L 1.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 88 0 0 66 18 21.4286 INO80 0 genome.wustl.edu 37 15 41276438 41276438 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 41276438 41276438 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.4034 p.S1345F 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 61 0 0 34 16 32 INO80 0 genome.wustl.edu 37 15 41379768 41379768 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 41379768 41379768 T C SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.650 p.K217R 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 257 0 0 190 45 19.1489 TYRO3 0 genome.wustl.edu 37 15 41864656 41864656 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 41864656 41864656 G A SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.1769 p.S590N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 211 1 0.471698 147 30 16.9492 TYRO3 0 genome.wustl.edu 37 15 41870425 41870425 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 41870425 41870425 A G SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.2624 p.Q875R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 64 0 0 42 11 20.7547 SPTBN5 0 genome.wustl.edu 37 15 42171952 42171952 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 42171952 42171952 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known silent c.2922 p.Q974 0.895 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 114 1 0.869565 79 11 12.2222 TMEM87A 0 genome.wustl.edu 37 15 42512335 42512335 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 42512335 42512335 T C SNP TMEM87A ENST00000389834 human ensembl 74_37 -1 known splice_site c.1404-2 e16-2 0.995 - - - no_errors TMEM87A HGNC ENSG00000103978 229 1 0.434783 143 29 16.8605 CAPN3 0 genome.wustl.edu 37 15 42652008 42652008 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 42652008 42652008 C T SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.5 p.P2L 0.941 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 279 0 0 180 39 17.8082 CAPN3 0 genome.wustl.edu 37 15 42693866 42693866 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 42693866 42693866 G A SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.1382 p.R461H 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 69 0 0 64 15 18.9873 UBR1 0 genome.wustl.edu 37 15 43244513 43244513 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43244513 43244513 C T SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.4969 p.A1657T 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 252 0 0 156 46 22.7723 UBR1 0 genome.wustl.edu 37 15 43258414 43258414 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43258414 43258414 G A SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.4528 p.R1510C 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 110 0 0 82 24 22.6415 TMEM62 0 genome.wustl.edu 37 15 43441276 43441276 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43441276 43441276 A G SNP TMEM62 ENST00000260403 human ensembl 74_37 +1 known missense c.793 p.M265V 1.000 NULL superfamily_Cadherin-like - no_errors TMEM62 HGNC ENSG00000137842 255 0 0 183 44 19.3833 EPB42 0 genome.wustl.edu 37 15 43508513 43508513 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43508513 43508513 C T SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known missense c.239 p.R80H 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 94 0 0 63 15 19.2308 TGM5 0 genome.wustl.edu 37 15 43531051 43531051 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43531051 43531051 G A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.1309 p.R437W 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 93 0 0 41 19 31.6667 TGM5 0 genome.wustl.edu 37 15 43548792 43548792 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43548792 43548792 G A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.529 p.R177C 0.048 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 233 2 0.851064 176 39 18.1395 TGM7 0 genome.wustl.edu 37 15 43568758 43568758 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43568758 43568758 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.2028 p.P676 0.989 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 203 1 0.490196 162 24 12.9032 MAP1A 0 genome.wustl.edu 37 15 43817423 43817423 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43817423 43817423 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.3752 p.A1251V 0.007 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 106 0 0 72 20 21.7391 MAP1A 0 genome.wustl.edu 37 15 43819209 43819209 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43819209 43819209 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.5538 p.V1846 0.999 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 65 0 0 45 7 13.4615 MAP1A 0 genome.wustl.edu 37 15 43819857 43819857 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43819857 43819857 T C SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.6186 p.V2062 0.076 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 75 0 0 62 11 15.0685 CKMT1A 0 genome.wustl.edu 37 15 43990846 43990846 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43990846 43990846 G A SNP CKMT1A ENST00000413453 human ensembl 74_37 +1 known missense c.1019 p.R340H 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT1A HGNC ENSG00000223572 136 0 0 88 21 19.2661 ELL3 0 genome.wustl.edu 37 15 44065395 44065395 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 44065395 44065395 A G SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known silent c.1113 p.R371 0.064 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 274 0 0 196 52 20.9677 WDR76 0 genome.wustl.edu 37 15 44149345 44149345 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 44149345 44149345 A G SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known missense c.1393 p.I465V 0.005 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 156 0 0 96 11 10.2804 SPG11 0 genome.wustl.edu 37 15 44913997 44913997 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 44913997 44913997 T C SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known silent c.2580 p.L860 0.029 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 138 0 0 101 30 22.9008 SPG11 0 genome.wustl.edu 37 15 44914121 44914121 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 44914121 44914121 T A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.2456 p.K819M 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 73 0 0 55 13 19.1176 B2M 0 genome.wustl.edu 37 15 45007755 45007755 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45007755 45007755 A G SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.202 p.K68E 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 353 0 0 253 18 6.64207 B2M 0 genome.wustl.edu 37 15 45007846 45007846 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45007846 45007846 A G SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.293 p.Y98C 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 277 1 0.359712 164 32 16.3265 TRIM69 0 genome.wustl.edu 37 15 45050837 45050837 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45050837 45050837 C A SNP TRIM69 ENST00000329464 human ensembl 74_37 +1 known missense c.598 p.Q200K 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors TRIM69 HGNC ENSG00000185880 99 0 0 65 16 19.7531 SLC28A2 0 genome.wustl.edu 37 15 45567685 45567685 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45567685 45567685 T C SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.1951 p.F651L 0.004 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 632 0 0 461 93 16.787 GATM 0 genome.wustl.edu 37 15 45658660 45658660 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45658660 45658660 T C SNP GATM ENST00000396659 human ensembl 74_37 -1 known missense c.722 p.Q241R 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 75 0 0 54 11 16.9231 SEMA6D 0 genome.wustl.edu 37 15 48056245 48056245 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 48056245 48056245 T C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.946 p.F316L 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 106 0 0 90 26 22.4138 SLC12A1 0 genome.wustl.edu 37 15 48580325 48580325 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 48580325 48580325 A G SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known silent c.2715 p.K905 0.999 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 35 0 0 27 9 25 FBN1 0 genome.wustl.edu 37 15 48707828 48707828 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 48707828 48707828 A G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.7956 p.C2652 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 163 0 0 119 22 15.6028 CEP152 0 genome.wustl.edu 37 15 49048376 49048376 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 49048376 49048376 A G SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known silent c.3069 p.S1023 0.887 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 277 0 0 218 45 17.1103 CEP152 0 genome.wustl.edu 37 15 49076171 49076171 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 49076171 49076171 G A SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known silent c.1320 p.S440 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 156 0 0 96 13 11.9266 FAM227B 0 genome.wustl.edu 37 15 49833967 49833967 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 49833967 49833967 T C SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known missense c.784 p.T262A 0.976 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 260 0 0 191 43 18.3761 TRPM7 0 genome.wustl.edu 37 15 50867177 50867177 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 50867177 50867177 A T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.4891 p.C1631S 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 374 1 0.266667 252 61 19.4888 TRPM7 0 genome.wustl.edu 37 15 50897284 50897284 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 50897284 50897284 A G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.2767 p.Y923H 1.000 pfam_Ion_trans_dom pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 282 0 0 197 33 14.3478 SPPL2A 0 genome.wustl.edu 37 15 51028334 51028334 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 51028334 51028334 A G SNP SPPL2A ENST00000261854 human ensembl 74_37 -1 known missense c.896 p.V299A 0.348 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2A HGNC ENSG00000138600 175 0 0 120 26 17.8082 TNFAIP8L3 0 genome.wustl.edu 37 15 51350348 51350348 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 51350348 51350348 G A SNP TNFAIP8L3 ENST00000327536 human ensembl 74_37 -1 known silent c.609 p.T203 0.145 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L3 HGNC ENSG00000183578 169 0 0 113 32 22.069 CYP19A1 0 genome.wustl.edu 37 15 51503171 51503171 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 51503171 51503171 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.1346 p.A449V 0.888 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 136 0 0 103 20 16.2602 DMXL2 0 genome.wustl.edu 37 15 51827880 51827880 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 51827880 51827880 A G SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known silent c.2416 p.L806 0.230 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 151 0 0 93 19 16.9643 MYO5A 0 genome.wustl.edu 37 15 52662616 52662616 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 52662616 52662616 T C SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known splice_site c.2818-2 e22-2 1.000 - - - no_errors MYO5A HGNC ENSG00000197535 129 0 0 86 28 24.5614 MYO5A 0 genome.wustl.edu 37 15 52668673 52668673 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 52668673 52668673 T C SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2291 p.D764G 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 116 0 0 90 11 10.8911 FAM214A 0 genome.wustl.edu 37 15 52902434 52902434 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 52902434 52902434 G A SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.677 p.T226M 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 201 0 0 137 32 18.9349 ONECUT1 0 genome.wustl.edu 37 15 53049965 53049965 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 53049965 53049965 G A SNP ONECUT1 ENST00000560699 human ensembl 74_37 -1 putative missense c.107 p.S36F 1.000 NULL NULL - no_errors ONECUT1 HGNC ENSG00000169856 407 0 0 336 74 18.0488 ONECUT1 0 genome.wustl.edu 37 15 53081197 53081197 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 53081197 53081197 T G SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.885 p.K295N 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 152 0 0 126 35 21.7391 UNC13C 0 genome.wustl.edu 37 15 54793148 54793148 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 54793148 54793148 T A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.5273 p.L1758* 0.994 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 235 0 0 178 39 17.9724 UNC13C 0 genome.wustl.edu 37 15 54803967 54803967 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 54803967 54803967 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5396 p.N1799S 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 39 0 0 26 5 16.129 PIGB 0 genome.wustl.edu 37 15 55632864 55632864 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 55632864 55632864 A G SNP PIGB ENST00000164305 human ensembl 74_37 +1 known missense c.901 p.T301A 0.136 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 49 0 0 33 7 17.5 CCPG1 0 genome.wustl.edu 37 15 55652756 55652756 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 55652756 55652756 A G SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known silent c.1215 p.G405 0.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 201 0 0 155 48 23.6453 MIR628 0 genome.wustl.edu 37 15 55665187 55665187 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 55665187 55665187 A G SNP MIR628 ENST00000385229 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors MIR628 HGNC ENSG00000207964 128 0 0 76 21 21.6495 PRTG 0 genome.wustl.edu 37 15 55972312 55972312 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 55972312 55972312 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.913 p.R305W 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 79 0 0 63 11 14.8649 NEDD4 0 genome.wustl.edu 37 15 56140717 56140717 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 56140717 56140717 A G SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known splice_site c.2740+2 e12+2 1.000 - - - no_errors NEDD4 HGNC ENSG00000069869 127 0 0 100 26 20.6349 ZNF280D 0 genome.wustl.edu 37 15 56927462 56927462 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 56927462 56927462 T C SNP ZNF280D ENST00000559446 human ensembl 74_37 -1 putative rna NULL NULL 0.691 - - - no_errors ZNF280D HGNC ENSG00000137871 86 0 0 41 15 26.7857 ZNF280D 0 genome.wustl.edu 37 15 56958612 56958612 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 56958612 56958612 A G SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.1975 p.Y659H 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 196 0 0 149 21 12.3529 ZNF280D 0 genome.wustl.edu 37 15 56970887 56970887 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 56970887 56970887 A G SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known silent c.1137 p.S379 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 196 0 0 119 38 24.2038 TCF12 0 genome.wustl.edu 37 15 57544484 57544484 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 57544484 57544484 T C SNP TCF12 ENST00000561449 human ensembl 74_37 +1 known rna NULL NULL 0.228 - - - no_errors TCF12 HGNC ENSG00000140262 12 0 0 11 5 31.25 SLTM 0 genome.wustl.edu 37 15 59186298 59186298 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 59186298 59186298 C T SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.1472 p.R491K 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 110 0 0 43 16 27.1186 FOXB1 0 genome.wustl.edu 37 15 60297214 60297214 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 60297214 60297214 T C SNP FOXB1 ENST00000396057 human ensembl 74_37 +1 known missense c.52 p.Y18H 0.998 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 39 0 0 25 8 24.2424 NARG2 0 genome.wustl.edu 37 15 60747243 60747243 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 60747243 60747243 T C SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.902 p.Q301R 1.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 231 1 0.431034 167 44 20.8531 HERC1 0 genome.wustl.edu 37 15 63952040 63952040 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 63952040 63952040 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.9319 p.R3107C 0.997 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 84 0 0 68 14 17.0732 HERC1 0 genome.wustl.edu 37 15 64048790 64048790 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 64048790 64048790 A G SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.1379 p.V460A 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 90 0 0 86 14 14 SNX1 0 genome.wustl.edu 37 15 64423957 64423957 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 64423957 64423957 T C SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known silent c.1087 p.L363 0.109 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 128 0 0 85 16 15.8416 ZNF609 0 genome.wustl.edu 37 15 64966838 64966838 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 64966838 64966838 G A SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known silent c.1785 p.G595 0.992 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 137 0 0 86 22 20.3704 ZNF609 0 genome.wustl.edu 37 15 64972981 64972981 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 64972981 64972981 G A SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.4082 p.R1361H 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 130 0 0 95 24 20.1681 PIF1 0 genome.wustl.edu 37 15 65116102 65116102 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 65116102 65116102 G T SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.433 p.R145S 1.000 NULL pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 9 0 0 6 5 45.4545 IGDCC3 0 genome.wustl.edu 37 15 65628287 65628287 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 65628287 65628287 C T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known silent c.417 p.S139 0.035 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 80 0 0 72 16 18.1818 DENND4A 0 genome.wustl.edu 37 15 65983159 65983159 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 65983159 65983159 T C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.3770 p.N1257S 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 78 0 0 50 12 19.3548 RAB11A 0 genome.wustl.edu 37 15 66161946 66161946 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 66161946 66161946 A G SNP RAB11A ENST00000261890 human ensembl 74_37 +1 known missense c.23 p.Y8C 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11A HGNC ENSG00000103769 93 0 0 65 9 12.1622 DIS3L 0 genome.wustl.edu 37 15 66612927 66612927 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 66612927 66612927 C T SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.1183 p.R395C 1.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 106 0 0 56 27 32.5301 PIAS1 0 genome.wustl.edu 37 15 68378937 68378937 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 68378937 68378937 G A SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known silent c.318 p.S106 0.993 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 303 0 0 209 62 22.8782 PIAS1 0 genome.wustl.edu 37 15 68438968 68438968 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 68438968 68438968 C T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.758 p.T253I 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 259 0 0 209 43 17.0635 ENSG00000260007 0 genome.wustl.edu 37 15 68489899 68489899 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 68489899 68489899 G A SNP ENSG00000260007 ENST00000562767 human ensembl 74_37 -1 putative missense c.151 p.P51S 1.000 NULL NULL - no_errors RP11-315D16.2 Clone_based_vega_gene ENSG00000260007 143 0 0 78 18 18.75 ITGA11 0 genome.wustl.edu 37 15 68624344 68624344 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 68624344 68624344 T G SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known silent c.1623 p.R541 0.740 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 37 0 0 24 4 14.2857 KIF23 0 genome.wustl.edu 37 15 69732777 69732777 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 69732777 69732777 G A SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.2018 p.R673Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 109 0 0 75 18 19.3548 NR2E3 0 genome.wustl.edu 37 15 72105733 72105733 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 72105733 72105733 T C SNP NR2E3 ENST00000326995 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 25 0 0 21 5 19.2308 ARIH1 0 genome.wustl.edu 37 15 72837173 72837173 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 72837173 72837173 A G SNP ARIH1 ENST00000379887 human ensembl 74_37 +1 known silent c.456 p.G152 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH1 HGNC ENSG00000166233 213 0 0 146 22 13.0952 CD276 0 genome.wustl.edu 37 15 73995290 73995290 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 73995290 73995290 A G SNP CD276 ENST00000318443 human ensembl 74_37 +1 known missense c.596 p.Q199R 1.000 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 70 0 0 60 14 18.9189 CCDC33 0 genome.wustl.edu 37 15 74536490 74536490 + Splice_Site SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 74536490 74536490 G T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known splice_site c.794+1 e4+1 0.996 - - - no_errors CCDC33 HGNC ENSG00000140481 107 0 0 79 13 14.1304 PPCDC 0 genome.wustl.edu 37 15 75336770 75336770 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 75336770 75336770 G A SNP PPCDC ENST00000342932 human ensembl 74_37 +1 known missense c.275 p.R92Q 1.000 pfam_Flavoprotein,superfamily_Flavoprotein pfam_Flavoprotein,superfamily_Flavoprotein - no_errors PPCDC HGNC ENSG00000138621 77 0 0 36 12 25 MIR631 0 genome.wustl.edu 37 15 75646009 75646009 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 75646009 75646009 T C SNP MIR631 ENST00000384904 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors MIR631 HGNC ENSG00000207636 93 0 0 63 10 13.6986 MAN2C1 0 genome.wustl.edu 37 15 75651057 75651057 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 75651057 75651057 T C SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.2234 p.H745R 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 70 0 0 52 7 11.8644 SNUPN 0 genome.wustl.edu 37 15 75890901 75890901 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 75890901 75890901 G A SNP SNUPN ENST00000371091 human ensembl 74_37 -1 known missense c.1007 p.P336L 0.984 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 223 0 0 151 32 17.4863 SCAPER 0 genome.wustl.edu 37 15 77020934 77020934 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 77020934 77020934 A G SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known splice_site c.2165+2 e16+2 1.000 - - - no_errors SCAPER HGNC ENSG00000140386 264 0 0 180 38 17.4312 PEAK1 0 genome.wustl.edu 37 15 77472351 77472351 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 77472351 77472351 T C SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.1918 p.I640V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 335 0 0 233 73 23.8562 PEAK1 0 genome.wustl.edu 37 15 77474003 77474003 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 77474003 77474003 A G SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.266 p.L89P 0.058 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 217 0 0 163 36 18.0905 HMG20A 0 genome.wustl.edu 37 15 77750834 77750834 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 77750834 77750834 A G SNP HMG20A ENST00000336216 human ensembl 74_37 +1 known missense c.85 p.T29A 0.003 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMG20A HGNC ENSG00000140382 84 0 0 57 17 22.973 IDH3A 0 genome.wustl.edu 37 15 78452550 78452550 + Splice_Site SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 78452550 78452550 T A SNP IDH3A ENST00000299518 human ensembl 74_37 +1 known splice_site c.289+2 e4+2 1.000 - - - no_errors IDH3A HGNC ENSG00000166411 60 0 0 44 11 20 IREB2 0 genome.wustl.edu 37 15 78732202 78732202 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 78732202 78732202 T C SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.85 p.S29P 1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 89 0 0 59 23 28.0488 RASGRF1 0 genome.wustl.edu 37 15 79304850 79304850 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 79304850 79304850 T C SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1846 p.R616G 0.049 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 72 0 0 58 22 27.5 RASGRF1 0 genome.wustl.edu 37 15 79339164 79339164 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 79339164 79339164 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.802 p.R268C 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 131 0 0 84 18 17.6471 KIAA1024 0 genome.wustl.edu 37 15 79748861 79748861 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 79748861 79748861 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known silent c.372 p.S124 0.238 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 142 0 0 68 19 21.8391 KIAA1024 0 genome.wustl.edu 37 15 79749423 79749423 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 79749423 79749423 T C SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.934 p.Y312H 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 291 0 0 189 47 19.9153 ZFAND6 0 genome.wustl.edu 37 15 80429859 80429859 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 80429859 80429859 A G SNP ZFAND6 ENST00000261749 human ensembl 74_37 +1 known silent c.516 p.V172 0.921 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND6 HGNC ENSG00000086666 146 1 0.680272 110 21 16.0305 AP3B2 0 genome.wustl.edu 37 15 83328679 83328679 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 83328679 83328679 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.3016 p.R1006W 0.653 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 198 0 0 127 41 24.4048 ADAMTSL3 0 genome.wustl.edu 37 15 84566740 84566740 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 84566740 84566740 C A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.1598 p.P533Q 1.000 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 137 0 0 102 34 25 ZSCAN2 0 genome.wustl.edu 37 15 85164847 85164847 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 85164847 85164847 A G SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.1421 p.Y474C 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 83 0 0 60 15 20 SCAND2P 0 genome.wustl.edu 37 15 85177596 85177596 + RNA SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 85177596 85177596 A T SNP SCAND2P ENST00000427525 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCAND2P HGNC ENSG00000176700 86 0 0 57 20 25.974 ALPK3 0 genome.wustl.edu 37 15 85411579 85411579 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 85411579 85411579 T C SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.5616 p.S1872 0.015 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 59 0 0 46 13 22.0339 PDE8A 0 genome.wustl.edu 37 15 85664157 85664157 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 85664157 85664157 A G SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.1864 p.T622A 0.706 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 99 0 0 100 22 18.0328 AKAP13 0 genome.wustl.edu 37 15 86064750 86064750 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 86064750 86064750 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.125 p.R42H 0.988 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 307 1 0.324675 251 52 17.1617 AKAP13 0 genome.wustl.edu 37 15 86284281 86284281 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 86284281 86284281 T C SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.7625 p.V2542A 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 74 0 0 42 6 12.5 RHCG 0 genome.wustl.edu 37 15 90021067 90021067 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90021067 90021067 C T SNP RHCG ENST00000268122 human ensembl 74_37 -1 known splice_site c.975+1 e6+1 1.000 - - - no_errors RHCG HGNC ENSG00000140519 53 0 0 36 8 18.1818 RHCG 0 genome.wustl.edu 37 15 90026320 90026320 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90026320 90026320 A G SNP RHCG ENST00000268122 human ensembl 74_37 -1 known missense c.500 p.F167S 0.991 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCG HGNC ENSG00000140519 74 0 0 46 8 14.8148 TICRR 0 genome.wustl.edu 37 15 90167812 90167812 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90167812 90167812 A G SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.4271 p.Q1424R 0.071 NULL NULL - no_errors TICRR HGNC ENSG00000140534 232 0 0 131 30 18.6335 KIF7 0 genome.wustl.edu 37 15 90171867 90171867 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90171867 90171867 G A SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.3815 p.P1272L 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 58 0 0 59 17 22.3684 ANPEP 0 genome.wustl.edu 37 15 90346959 90346959 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90346959 90346959 G T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known silent c.1356 p.S452 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 51 0 0 41 8 16.3265 NGRN 0 genome.wustl.edu 37 15 90808954 90808954 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90808954 90808954 A G SNP NGRN ENST00000379095 human ensembl 74_37 +1 known missense c.10 p.T4A 0.000 NULL pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 17 0 0 12 3 20 IQGAP1 0 genome.wustl.edu 37 15 90972889 90972889 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90972889 90972889 A G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known silent c.381 p.G127 0.717 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 151 0 0 124 32 20.5128 IQGAP1 0 genome.wustl.edu 37 15 90984789 90984789 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 90984789 90984789 C T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.701 p.A234V 0.991 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 158 0 0 141 29 17.0588 FURIN 0 genome.wustl.edu 37 15 91422155 91422155 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 91422155 91422155 G A SNP FURIN ENST00000268171 human ensembl 74_37 +1 known silent c.1002 p.S334 0.995 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 23 0 0 13 3 18.75 FES 0 genome.wustl.edu 37 15 91435964 91435964 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 91435964 91435964 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.1735 p.R579C 0.985 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 38 0 0 33 14 29.7872 FES 0 genome.wustl.edu 37 15 91437188 91437188 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 91437188 91437188 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.2226 p.D742 0.289 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 311 1 0.320513 232 72 23.6842 MAN2A2 0 genome.wustl.edu 37 15 91449168 91449168 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 91449168 91449168 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 42 0 0 27 8 22.8571 UNC45A 0 genome.wustl.edu 37 15 91493834 91493834 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 91493834 91493834 C T SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known silent c.2292 p.S764 0.585 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 49 0 0 29 5 14.7059 NR2F2 0 genome.wustl.edu 37 15 96877521 96877521 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 96877521 96877521 T C SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known missense c.659 p.L220P 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 214 0 0 141 30 17.5439 CIITA 0 genome.wustl.edu 37 16 11001507 11001507 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 11001507 11001507 C A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.2158 p.L720M 0.000 pfscan_NACHT_NTPase,prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 121 0 0 97 24 19.8347 SOCS1 0 genome.wustl.edu 37 16 11348957 11348957 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 11348957 11348957 G A SNP SOCS1 ENST00000332029 human ensembl 74_37 -1 known missense c.379 p.R127C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS1 HGNC ENSG00000185338 16 0 0 13 3 18.75 ZC3H7A 0 genome.wustl.edu 37 16 11861389 11861389 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 11861389 11861389 T G SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.1406 p.K469T 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 208 0 0 141 33 18.9655 ZC3H7A 0 genome.wustl.edu 37 16 11868834 11868834 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 11868834 11868834 A G SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known splice_site c.619+2 e7+2 1.000 - - - no_errors ZC3H7A HGNC ENSG00000122299 126 0 0 96 18 15.7895 CACNA1H 0 genome.wustl.edu 37 16 1262117 1262117 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1262117 1262117 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4738 p.R1580C 0.981 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 35 0 0 20 6 23.0769 TPSG1 0 genome.wustl.edu 37 16 1272025 1272025 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1272025 1272025 A G SNP TPSG1 ENST00000234798 human ensembl 74_37 -1 known silent c.729 p.G243 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 31 0 0 23 7 23.3333 CPPED1 0 genome.wustl.edu 37 16 12798799 12798799 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 12798799 12798799 T C SNP CPPED1 ENST00000381774 human ensembl 74_37 -1 known missense c.397 p.T133A 0.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 106 1 0.934579 74 20 21.2766 BAIAP3 0 genome.wustl.edu 37 16 1394813 1394813 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1394813 1394813 A G SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.1877 p.D626G 1.000 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 72 0 0 55 10 15.3846 PDXDC1 0 genome.wustl.edu 37 16 15129317 15129317 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15129317 15129317 T C SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known missense c.2014 p.S672P 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 32 0 0 18 3 14.2857 NTAN1 0 genome.wustl.edu 37 16 15132496 15132496 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15132496 15132496 A G SNP NTAN1 ENST00000287706 human ensembl 74_37 -1 known missense c.688 p.Y230H 1.000 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 205 0 0 168 44 20.7547 RRN3 0 genome.wustl.edu 37 16 15155702 15155702 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15155702 15155702 C T SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known missense c.1855 p.V619M 0.285 NULL pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 98 0 0 83 29 25.8929 TELO2 0 genome.wustl.edu 37 16 1556270 1556270 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1556270 1556270 C T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.2066 p.P689L 1.000 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 89 0 0 47 19 28.7879 KIAA0430 0 genome.wustl.edu 37 16 15725274 15725274 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15725274 15725274 T C SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.1315 p.T439A 1.000 pfam_NYN_limkain-b1 pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 117 0 0 80 26 24.5283 MYH11 0 genome.wustl.edu 37 16 15797824 15797824 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15797824 15797824 T C SNP MYH11 ENST00000573908 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYH11 HGNC ENSG00000133392 277 0 0 186 45 19.4805 MYH11 0 genome.wustl.edu 37 16 15842010 15842010 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15842010 15842010 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.2095 p.A699T 0.913 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 67 0 0 64 13 16.8831 MYH11 0 genome.wustl.edu 37 16 15853509 15853509 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 15853509 15853509 T C SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.1346 p.K449R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 156 0 0 118 32 21.3333 IFT140 0 genome.wustl.edu 37 16 1652558 1652558 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1652558 1652558 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.182 p.P61L 0.061 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 96 0 0 54 15 21.7391 XYLT1 0 genome.wustl.edu 37 16 17211735 17211735 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 17211735 17211735 T A SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.2325 p.G775 0.993 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 101 0 0 61 18 22.7848 XYLT1 0 genome.wustl.edu 37 16 17292097 17292097 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 17292097 17292097 T C SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.1261 p.N421D 1.000 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 103 0 0 46 20 30.303 MAPK8IP3 0 genome.wustl.edu 37 16 1797135 1797135 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1797135 1797135 G A SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.850 p.A284T 0.649 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 79 0 0 58 9 13.4328 MAPK8IP3 0 genome.wustl.edu 37 16 1812944 1812944 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1812944 1812944 G A SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.1832 p.R611H 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 123 0 0 72 23 24.2105 MAPK8IP3 0 genome.wustl.edu 37 16 1818228 1818228 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1818228 1818228 G T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.3588 p.E1196D 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 171 0 0 107 31 22.4638 NUBP2 0 genome.wustl.edu 37 16 1836918 1836918 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1836918 1836918 C T SNP NUBP2 ENST00000262302 human ensembl 74_37 +1 known missense c.296 p.P99L 0.998 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK,superfamily_P-loop_NTPase - no_errors NUBP2 HGNC ENSG00000095906 36 0 0 24 6 20 SMG1 0 genome.wustl.edu 37 16 18859270 18859270 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 18859270 18859270 A G SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.5709 p.S1903 0.986 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 170 0 0 125 36 22.3602 SMG1 0 genome.wustl.edu 37 16 18863428 18863428 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 18863428 18863428 A G SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.5013 p.G1671 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 129 0 0 100 22 18.0328 COQ7 0 genome.wustl.edu 37 16 19089418 19089418 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 19089418 19089418 G A SNP COQ7 ENST00000321998 human ensembl 74_37 +1 known missense c.592 p.V198I 0.000 pfam_Ubq_synth_Coq7 pfam_Ubq_synth_Coq7,superfamily_Ferritin-like_SF - no_errors COQ7 HGNC ENSG00000167186 95 0 0 65 13 16.6667 C16orf62 0 genome.wustl.edu 37 16 19613036 19613036 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 19613036 19613036 G A SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.1042 p.V348I 0.002 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 94 0 0 71 17 19.3182 GPRC5B 0 genome.wustl.edu 37 16 19884072 19884072 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 19884072 19884072 G A SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known silent c.174 p.S58 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 97 0 0 82 18 18 RNF151 0 genome.wustl.edu 37 16 2018579 2018579 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2018579 2018579 C A SNP RNF151 ENST00000569714 human ensembl 74_37 +1 known silent c.391 p.R131 0.011 superfamily_TRAF-like,pfscan_Znf_SIAH,pfscan_Znf_TRAF pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF - no_errors RNF151 HGNC ENSG00000179580 17 0 0 12 3 20 GP2 0 genome.wustl.edu 37 16 20325983 20325983 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 20325983 20325983 A G SNP GP2 ENST00000381362 human ensembl 74_37 -1 known silent c.1551 p.T517 0.001 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 83 0 0 62 9 12.6761 ENSG00000262995 0 genome.wustl.edu 37 16 20451828 20451828 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 20451828 20451828 A G SNP ENSG00000262995 ENST00000574654 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors CTD-2194A8.2 Clone_based_vega_gene ENSG00000262995 51 0 0 28 5 15.1515 ZNF598 0 genome.wustl.edu 37 16 2048327 2048327 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2048327 2048327 A G SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.2621 p.L874P 0.996 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 104 0 0 92 19 17.1171 DNAH3 0 genome.wustl.edu 37 16 20946788 20946788 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 20946788 20946788 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.11879 p.P3960H 0.168 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 57 0 0 40 8 16.6667 DNAH3 0 genome.wustl.edu 37 16 20966223 20966223 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 20966223 20966223 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.10983 p.C3661 0.667 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 230 0 0 151 20 11.6959 DNAH3 0 genome.wustl.edu 37 16 21117982 21117982 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 21117982 21117982 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.2113 p.Y705H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 94 0 0 59 11 15.7143 ZP2 0 genome.wustl.edu 37 16 21209140 21209140 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 21209140 21209140 C A SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.2042 p.G681V 0.078 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 171 1 0.581395 112 30 21.1268 ZP2 0 genome.wustl.edu 37 16 21216742 21216742 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 21216742 21216742 A G SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.692 p.V231A 0.412 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 115 0 0 85 19 18.2692 CRYM 0 genome.wustl.edu 37 16 21288787 21288787 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 21288787 21288787 G T SNP CRYM ENST00000219599 human ensembl 74_37 -1 known missense c.289 p.L97I 0.998 pfam_ODC_Mu_crystall pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd - no_errors CRYM HGNC ENSG00000103316 42 0 0 33 6 15.3846 PKD1 0 genome.wustl.edu 37 16 2140102 2140102 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2140102 2140102 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12538 p.A4180T 0.985 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 44 0 0 33 3 8.33333 PKD1 0 genome.wustl.edu 37 16 2153699 2153699 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2153699 2153699 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.8359 p.R2787C 1.000 pfscan_REJ-like pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 26 0 0 25 11 30.5556 IGSF6 0 genome.wustl.edu 37 16 21654458 21654458 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 21654458 21654458 A G SNP IGSF6 ENST00000268389 human ensembl 74_37 -1 known silent c.603 p.R201 0.998 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF6 HGNC ENSG00000140749 125 0 0 71 37 34.2593 CASKIN1 0 genome.wustl.edu 37 16 2237034 2237034 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2237034 2237034 T A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.875 p.Y292F 0.992 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 98 0 0 62 16 20.5128 BRICD5 0 genome.wustl.edu 37 16 2259973 2259973 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2259973 2259973 C T SNP BRICD5 ENST00000562360 human ensembl 74_37 -1 known missense c.416 p.R139Q 0.164 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 17 0 0 13 5 27.7778 E4F1 0 genome.wustl.edu 37 16 2278379 2278379 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2278379 2278379 A G SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known missense c.164 p.D55G 0.961 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 36 0 0 36 9 20 HS3ST2 0 genome.wustl.edu 37 16 22826085 22826085 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 22826085 22826085 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.154 p.A52T 0.997 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 10 0 0 10 3 23.0769 EARS2 0 genome.wustl.edu 37 16 23540844 23540844 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 23540844 23540844 A G SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known missense c.1331 p.V444A 0.000 superfamily_aa-tRNA-synth_I_codon-bd,tigrfam_Glu-tRNA-ligase_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 44 0 0 33 6 15.3846 PALB2 0 genome.wustl.edu 37 16 23632760 23632760 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 23632760 23632760 A G SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known silent c.3036 p.T1012 0.016 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 161 0 0 119 23 16.1972 PALB2 0 genome.wustl.edu 37 16 23641278 23641278 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 23641278 23641278 T C SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known missense c.2197 p.T733A 0.020 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 181 1 0.549451 131 20 13.245 ABCA3 0 genome.wustl.edu 37 16 2369674 2369674 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2369674 2369674 A G SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.781 p.Y261H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 96 0 0 80 18 18.3673 PLK1 0 genome.wustl.edu 37 16 23700987 23700987 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 23700987 23700987 A G SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1598 p.N533S 1.000 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 25 0 0 17 3 15 ERN2 0 genome.wustl.edu 37 16 23712303 23712303 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 23712303 23712303 A G SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1480 p.W494R 1.000 NULL pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 134 1 0.740741 94 21 18.2609 RBBP6 0 genome.wustl.edu 37 16 24581291 24581291 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 24581291 24581291 A G SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.3280 p.K1094E 0.978 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 69 0 0 57 8 12.3077 NTN3 0 genome.wustl.edu 37 16 2522124 2522124 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2522124 2522124 G A SNP NTN3 ENST00000293973 human ensembl 74_37 +1 known missense c.422 p.G141D 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 59 0 0 52 11 17.4603 NSMCE1 0 genome.wustl.edu 37 16 27246576 27246576 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 27246576 27246576 T C SNP NSMCE1 ENST00000361439 human ensembl 74_37 -1 known missense c.181 p.N61D 0.997 pfam_Nse1 pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING - no_errors NSMCE1 HGNC ENSG00000169189 132 0 0 69 26 27.3684 GTF3C1 0 genome.wustl.edu 37 16 27500487 27500487 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 27500487 27500487 C A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3306 p.E1102D 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 157 0 0 111 19 14.6154 KIAA0556 0 genome.wustl.edu 37 16 27761462 27761462 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 27761462 27761462 A G SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.3181 p.T1061A 0.052 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 77 0 0 72 8 10 SRRM2 0 genome.wustl.edu 37 16 2816641 2816641 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 2816641 2816641 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.6112 p.P2038S 0.834 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 47 0 0 31 12 27.907 CLN3 0 genome.wustl.edu 37 16 28503056 28503056 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 28503056 28503056 G A SNP CLN3 ENST00000359984 human ensembl 74_37 -1 known missense c.25 p.R9W 0.000 pirsf_Battenin_disease_Cln3_subgr pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 36 0 0 14 7 33.3333 SULT1A2 0 genome.wustl.edu 37 16 28603680 28603680 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 28603680 28603680 T C SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known missense c.679 p.T227A 0.620 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 212 0 0 138 34 19.7674 MAZ 0 genome.wustl.edu 37 16 29818672 29818672 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 29818672 29818672 C T SNP MAZ ENST00000219782 human ensembl 74_37 +1 known missense c.566 p.P189L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 33 0 0 18 3 14.2857 MAZ 0 genome.wustl.edu 37 16 29820119 29820119 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 29820119 29820119 C T SNP MAZ ENST00000569978 human ensembl 74_37 +1 putative missense c.139 p.R47C 0.000 NULL NULL - no_errors MAZ HGNC ENSG00000103495 14 0 0 12 7 36.8421 MVP 0 genome.wustl.edu 37 16 29848270 29848270 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 29848270 29848270 C T SNP MVP ENST00000452209 human ensembl 74_37 +1 known missense c.343 p.R115C 0.992 NULL NULL - no_errors MVP HGNC ENSG00000013364 42 0 0 42 4 8.69565 MVP 0 genome.wustl.edu 37 16 29853294 29853294 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 29853294 29853294 T C SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.1495 p.S499P 1.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 46 0 0 31 6 16.2162 SEZ6L2 0 genome.wustl.edu 37 16 29884676 29884676 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 29884676 29884676 C T SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known silent c.2373 p.A791 0.317 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 135 0 0 86 11 11.3402 TAOK2 0 genome.wustl.edu 37 16 29999006 29999006 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 29999006 29999006 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.3413 p.R1138H 0.005 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 130 1 0.763359 78 24 23.5294 TBX6 0 genome.wustl.edu 37 16 30100530 30100530 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30100530 30100530 G A SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known missense c.355 p.R119C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 61 0 0 44 10 18.5185 CORO1A 0 genome.wustl.edu 37 16 30199327 30199327 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30199327 30199327 T C SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known missense c.926 p.M309T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 170 0 0 129 40 23.6686 SEPHS2 0 genome.wustl.edu 37 16 30455783 30455783 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30455783 30455783 A G SNP SEPHS2 ENST00000542752 human ensembl 74_37 -1 known silent c.1095 p.V365 1.000 superfamily_AIR_synth_C_dom,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 91 0 0 73 15 17.0455 ITGAL 0 genome.wustl.edu 37 16 30507448 30507448 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30507448 30507448 G T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1534 p.G512W 0.999 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 150 0 0 115 26 18.4397 CLDN9 0 genome.wustl.edu 37 16 3063692 3063692 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 3063692 3063692 A G SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known missense c.329 p.D110G 0.996 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 159 0 0 109 20 15.5039 SRCAP 0 genome.wustl.edu 37 16 30723629 30723629 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30723629 30723629 A G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.1862 p.Y621C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 231 0 0 174 34 16.3462 SRCAP 0 genome.wustl.edu 37 16 30734392 30734392 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30734392 30734392 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.4001 p.P1334L 0.928 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 165 0 0 105 33 23.913 STX1B 0 genome.wustl.edu 37 16 31012272 31012272 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 31012272 31012272 T G SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.257 p.N86T 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 134 0 0 80 27 25.2336 ZNF668 0 genome.wustl.edu 37 16 31073349 31073349 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 31073349 31073349 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.969 p.R323 0.948 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 36 0 0 22 5 18.5185 FUS 0 genome.wustl.edu 37 16 31202336 31202336 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 31202336 31202336 C T SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.1446 p.G482 0.819 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 112 0 0 79 12 13.1868 PYDC1 0 genome.wustl.edu 37 16 31228272 31228272 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 31228272 31228272 C T SNP PYDC1 ENST00000302964 human ensembl 74_37 -1 known silent c.78 p.K26 0.003 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN - no_errors PYDC1 HGNC ENSG00000169900 67 0 0 40 14 25.9259 ZSCAN10 0 genome.wustl.edu 37 16 3139421 3139421 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 3139421 3139421 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1849 p.R617C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 32 0 0 23 9 28.125 ITGAD 0 genome.wustl.edu 37 16 31422138 31422138 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 31422138 31422138 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1295 p.A432V 0.936 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 77 0 0 43 9 17.3077 TGFB1I1 0 genome.wustl.edu 37 16 31488739 31488739 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 31488739 31488739 C T SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known missense c.1228 p.L410F 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 15 0 0 8 6 42.8571 MEFV 0 genome.wustl.edu 37 16 3297108 3297108 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 3297108 3297108 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.1495 p.D499N 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 270 0 0 202 54 21.0938 ZNF75A 0 genome.wustl.edu 37 16 3363138 3363138 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 3363138 3363138 T C SNP ZNF75A ENST00000574298 human ensembl 74_37 +1 known silent c.63 p.D21 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF75A HGNC ENSG00000162086 166 0 0 93 18 16.2162 SLX4 0 genome.wustl.edu 37 16 3640761 3640761 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 3640761 3640761 T C SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.2878 p.S960G 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 120 0 0 97 17 14.9123 AXIN1 0 genome.wustl.edu 37 16 364605 364605 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 364605 364605 G A SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known silent c.957 p.N319 0.712 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 68 0 0 42 9 17.6471 DNAJA3 0 genome.wustl.edu 37 16 4492327 4492327 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 4492327 4492327 T C SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known missense c.689 p.V230A 1.000 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 131 0 0 80 20 20 NMRAL1 0 genome.wustl.edu 37 16 4513759 4513759 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 4513759 4513759 C T SNP NMRAL1 ENST00000283429 human ensembl 74_37 -1 known missense c.622 p.V208I 0.000 pfam_NmrA pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC ENSG00000153406 86 0 0 50 20 28.5714 ABCC12 0 genome.wustl.edu 37 16 48174690 48174690 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 48174690 48174690 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.565 p.R189C 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 218 0 0 160 44 21.5686 N4BP1 0 genome.wustl.edu 37 16 48576961 48576961 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 48576961 48576961 T C SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.2545 p.R849G 1.000 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 80 0 0 59 8 11.9403 N4BP1 0 genome.wustl.edu 37 16 48580154 48580154 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 48580154 48580154 T C SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.2237 p.Y746C 0.996 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 128 0 0 88 23 20.7207 N4BP1 0 genome.wustl.edu 37 16 48596113 48596113 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 48596113 48596113 T C SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known silent c.441 p.L147 0.420 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 211 0 0 127 36 22.0859 UBN1 0 genome.wustl.edu 37 16 4911013 4911013 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 4911013 4911013 G A SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known silent c.1020 p.G340 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 64 0 0 60 17 22.0779 CBLN1 0 genome.wustl.edu 37 16 49313496 49313496 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 49313496 49313496 T C SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.401 p.N134S 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 67 0 0 60 14 18.9189 PPL 0 genome.wustl.edu 37 16 4933734 4933734 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 4933734 4933734 C G SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.4922 p.G1641A 0.436 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 75 0 0 52 14 21.2121 C16orf78 0 genome.wustl.edu 37 16 49430466 49430466 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 49430466 49430466 A G SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.527 p.D176G 0.223 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 92 0 0 67 19 22.093 HEATR3 0 genome.wustl.edu 37 16 50112751 50112751 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50112751 50112751 C T SNP HEATR3 ENST00000299192 human ensembl 74_37 +1 known missense c.863 p.A288V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 117 0 0 80 21 20.7921 ADCY7 0 genome.wustl.edu 37 16 50347896 50347896 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50347896 50347896 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2779 p.V927M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 122 0 0 84 20 19.2308 BRD7 0 genome.wustl.edu 37 16 50354660 50354660 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50354660 50354660 C T SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known missense c.1529 p.R510H 0.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 474 0 0 309 71 18.6842 NKD1 0 genome.wustl.edu 37 16 50659415 50659415 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50659415 50659415 C T SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known missense c.386 p.S129F 1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 74 0 0 40 13 24.5283 SNX20 0 genome.wustl.edu 37 16 50707743 50707743 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50707743 50707743 G A SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known silent c.525 p.R175 0.997 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 24 0 0 16 5 23.8095 CYLD 0 genome.wustl.edu 37 16 50783754 50783754 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50783754 50783754 T C SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.145 p.Y49H 1.000 NULL pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 186 0 0 139 38 21.4689 CYLD 0 genome.wustl.edu 37 16 50788337 50788337 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 50788337 50788337 T C SNP CYLD ENST00000311559 human ensembl 74_37 +1 known splice_site c.913+2 e3+2 1.000 - - - no_errors CYLD HGNC ENSG00000083799 80 0 0 70 23 24.7312 RAB11FIP3 0 genome.wustl.edu 37 16 511444 511444 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 511444 511444 G A SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.755 p.G252D 0.992 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 203 0 0 150 30 16.6667 SALL1 0 genome.wustl.edu 37 16 51173803 51173803 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 51173803 51173803 T C SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2330 p.N777S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 170 0 0 123 22 15.1724 SALL1 0 genome.wustl.edu 37 16 51174322 51174322 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 51174322 51174322 T C SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1811 p.N604S 0.974 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 65 0 0 54 7 11.4754 CHD9 0 genome.wustl.edu 37 16 53190246 53190246 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 53190246 53190246 T C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.245 p.V82A 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 156 0 0 124 32 20.5128 RPGRIP1L 0 genome.wustl.edu 37 16 53730184 53730184 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 53730184 53730184 T C SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.109 p.K37E 1.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 360 0 0 303 61 16.7582 IRX5 0 genome.wustl.edu 37 16 54965177 54965177 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 54965177 54965177 T C SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.67 p.Y23H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 26 0 0 16 3 15.7895 IRX5 0 genome.wustl.edu 37 16 54967711 54967711 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 54967711 54967711 T C SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known silent c.1378 p.L460 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 164 0 0 91 16 14.9533 NLRC5 0 genome.wustl.edu 37 16 57059448 57059448 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 57059448 57059448 A G SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.593 p.D198G 0.001 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 197 0 0 140 27 16.1677 USB1 0 genome.wustl.edu 37 16 58036471 58036471 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 58036471 58036471 G A SNP USB1 ENST00000219281 human ensembl 74_37 +1 known missense c.187 p.D63N 1.000 pfam_Usb1 pfam_Usb1 - no_errors USB1 HGNC ENSG00000103005 182 0 0 125 29 18.8312 PRSS54 0 genome.wustl.edu 37 16 58324986 58324986 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 58324986 58324986 A G SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.140 p.L47S 0.796 superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 72 0 0 63 7 10 CNOT1 0 genome.wustl.edu 37 16 58555205 58555205 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 58555205 58555205 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.6934 p.L2312 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 203 0 0 143 22 13.3333 CNOT1 0 genome.wustl.edu 37 16 58559097 58559097 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 58559097 58559097 T C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.6770 p.D2257G 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 190 0 0 133 32 19.3939 CNOT1 0 genome.wustl.edu 37 16 58614646 58614646 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 58614646 58614646 A G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.1234 p.S412P 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 90 0 0 75 21 21.875 PIGQ 0 genome.wustl.edu 37 16 624580 624580 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 624580 624580 T C SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.506 p.V169A 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 11 0 0 6 5 45.4545 CDH16 0 genome.wustl.edu 37 16 66943186 66943186 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 66943186 66943186 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known silent c.2376 p.G792 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 48 0 0 32 7 17.9487 PLEKHG4 0 genome.wustl.edu 37 16 67315670 67315670 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67315670 67315670 C T SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.935 p.T312M 0.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 151 0 0 107 26 19.5489 HSD11B2 0 genome.wustl.edu 37 16 67470813 67470813 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67470813 67470813 A G SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known silent c.1125 p.A375 0.833 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 100 1 0.990099 79 18 18.5567 CTCF 0 genome.wustl.edu 37 16 67662300 67662300 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67662300 67662300 A G SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.1546 p.T516A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 76 0 0 70 9 11.3924 RLTPR 0 genome.wustl.edu 37 16 67683765 67683765 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67683765 67683765 A T SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.1976 p.Q659L 0.895 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 43 0 0 36 11 23.4043 RLTPR 0 genome.wustl.edu 37 16 67683871 67683871 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67683871 67683871 G A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known silent c.2082 p.Q694 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 37 0 0 30 10 25 ACD 0 genome.wustl.edu 37 16 67694161 67694161 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67694161 67694161 T C SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.221 p.N74S 0.001 NULL NULL - no_errors ACD HGNC ENSG00000102977 62 0 0 39 8 17.0213 ENKD1 0 genome.wustl.edu 37 16 67697558 67697558 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67697558 67697558 A G SNP ENKD1 ENST00000243878 human ensembl 74_37 -1 known splice_site c.743+2 e5+2 1.000 - - - no_errors ENKD1 HGNC ENSG00000124074 33 0 0 32 6 15.7895 RANBP10 0 genome.wustl.edu 37 16 67763602 67763602 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67763602 67763602 A G SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known silent c.1128 p.S376 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 104 0 0 73 17 18.8889 NUTF2 0 genome.wustl.edu 37 16 67902272 67902272 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67902272 67902272 A G SNP NUTF2 ENST00000219169 human ensembl 74_37 +1 known silent c.129 p.G43 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC ENSG00000102898 135 1 0.735294 85 23 21.2963 EDC4 0 genome.wustl.edu 37 16 67915902 67915902 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67915902 67915902 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.3050 p.G1017E 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 22 0 0 14 3 17.6471 PSMB10 0 genome.wustl.edu 37 16 67968770 67968770 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67968770 67968770 C A SNP PSMB10 ENST00000358514 human ensembl 74_37 -1 known missense c.640 p.A214S 1.000 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC ENSG00000205220 269 0 0 191 53 21.7213 SLC12A4 0 genome.wustl.edu 37 16 67991804 67991804 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 67991804 67991804 A G SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.492 p.C164 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 67 0 0 37 5 11.9048 DUS2 0 genome.wustl.edu 37 16 68110607 68110607 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68110607 68110607 G A SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known silent c.1155 p.Q385 0.999 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 98 0 0 64 18 21.9512 ESRP2 0 genome.wustl.edu 37 16 68266489 68266489 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68266489 68266489 T C SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known missense c.842 p.N281S 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 169 0 0 102 28 21.5385 PRMT7 0 genome.wustl.edu 37 16 68373316 68373316 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68373316 68373316 T C SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known missense c.596 p.I199T 0.913 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 132 0 0 91 24 20.8696 PRMT7 0 genome.wustl.edu 37 16 68380154 68380154 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68380154 68380154 A G SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known missense c.1162 p.T388A 1.000 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 110 0 0 81 26 24.2991 SMPD3 0 genome.wustl.edu 37 16 68405595 68405595 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68405595 68405595 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.490 p.R164W 0.991 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 30 0 0 16 8 33.3333 CDH3 0 genome.wustl.edu 37 16 68719188 68719188 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68719188 68719188 A G SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.1505 p.D502G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 80 0 0 75 9 10.7143 TANGO6 0 genome.wustl.edu 37 16 68894252 68894252 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 68894252 68894252 C T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.560 p.A187V 0.001 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 352 0 0 272 77 22.063 TANGO6 0 genome.wustl.edu 37 16 69008054 69008054 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 69008054 69008054 G A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.2825 p.R942Q 0.994 superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 64 0 0 50 14 21.875 NFAT5 0 genome.wustl.edu 37 16 69729043 69729043 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 69729043 69729043 T C SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.4419 p.C1473 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 87 0 0 61 13 17.5676 NQO1 0 genome.wustl.edu 37 16 69752360 69752360 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 69752360 69752360 C T SNP NQO1 ENST00000320623 human ensembl 74_37 -1 known missense c.85 p.A29T 0.993 pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO1 HGNC ENSG00000181019 123 1 0.806452 115 20 14.8148 WWP2 0 genome.wustl.edu 37 16 69959116 69959116 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 69959116 69959116 C T SNP WWP2 ENST00000568185 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WWP2 HGNC ENSG00000198373 27 0 0 23 4 14.8148 WWP2 0 genome.wustl.edu 37 16 69971539 69971539 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 69971539 69971539 T A SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.2327 p.I776N 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 63 0 0 41 7 14.5833 WDR90 0 genome.wustl.edu 37 16 701657 701657 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 701657 701657 G A SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel silent c.750 p.P250 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 269 0 0 161 46 22.2222 IL34 0 genome.wustl.edu 37 16 70690978 70690978 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 70690978 70690978 T C SNP IL34 ENST00000288098 human ensembl 74_37 +1 known missense c.356 p.L119P 0.998 prints_IL-34 prints_IL-34 - no_errors IL34 HGNC ENSG00000157368 159 0 0 126 27 17.6471 HYDIN 0 genome.wustl.edu 37 16 71127727 71127727 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 71127727 71127727 C T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.1439 p.C480Y 0.998 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 102 0 0 86 20 18.8679 HYDIN 0 genome.wustl.edu 37 16 71218773 71218773 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 71218773 71218773 G A SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known nonsense c.256 p.Q86* 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 218 0 0 163 35 17.6768 CMTR2 0 genome.wustl.edu 37 16 71317627 71317627 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 71317627 71317627 C T SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known missense c.2197 p.G733R 0.880 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 83 0 0 56 13 18.8406 TAT 0 genome.wustl.edu 37 16 71609922 71609922 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 71609922 71609922 A G SNP TAT ENST00000355962 human ensembl 74_37 -1 known silent c.243 p.P81 0.807 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 160 0 0 92 22 19.2982 AP1G1 0 genome.wustl.edu 37 16 71799413 71799413 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 71799413 71799413 A G SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known silent c.786 p.G262 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 153 0 0 93 24 20.5128 DHX38 0 genome.wustl.edu 37 16 72130232 72130232 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 72130232 72130232 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.176 p.R59Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 79 0 0 45 7 13.4615 ZFHX3 0 genome.wustl.edu 37 16 72828908 72828908 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 72828908 72828908 T C SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.7673 p.N2558S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 116 0 0 94 16 14.5455 ZFHX3 0 genome.wustl.edu 37 16 72830804 72830804 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 72830804 72830804 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.5777 p.G1926D 0.726 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 142 0 0 79 26 24.7619 ZFHX3 0 genome.wustl.edu 37 16 72923801 72923801 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 72923801 72923801 A G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.3277 p.C1093R 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 66 0 0 31 8 20.5128 WWOX 0 genome.wustl.edu 37 16 78466543 78466543 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 78466543 78466543 C T SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.950 p.T317M 0.998 prints_Glc/ribitol_DH pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 298 0 0 198 45 18.5185 ATMIN 0 genome.wustl.edu 37 16 81078356 81078356 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 81078356 81078356 A G SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.2253 p.I751M 0.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 208 0 0 146 43 22.7513 GAN 0 genome.wustl.edu 37 16 81411130 81411130 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 81411130 81411130 A G SNP GAN ENST00000568107 human ensembl 74_37 +1 known missense c.1723 p.I575V 0.998 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 395 0 0 293 72 19.726 CMIP 0 genome.wustl.edu 37 16 81733390 81733390 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 81733390 81733390 A G SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.1739 p.N580S 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 20 0 0 22 4 15.3846 PLCG2 0 genome.wustl.edu 37 16 81819728 81819728 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 81819728 81819728 T C SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.134 p.V45A 1.000 smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 88 0 0 48 8 14.2857 MSLNL 0 genome.wustl.edu 37 16 825480 825480 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 825480 825480 C T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.1281 p.A427 0.003 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 20 0 0 19 4 17.3913 CDH13 0 genome.wustl.edu 37 16 83817018 83817018 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 83817018 83817018 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.2075 p.A692V 0.250 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 153 0 0 125 8 6.01504 TLDC1 0 genome.wustl.edu 37 16 84520276 84520276 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 84520276 84520276 A G SNP TLDC1 ENST00000343629 human ensembl 74_37 -1 known missense c.919 p.F307L 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 126 1 0.787402 75 12 13.7931 USP10 0 genome.wustl.edu 37 16 84778843 84778843 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 84778843 84778843 G T SNP USP10 ENST00000570191 human ensembl 74_37 +1 known missense c.768 p.Q256H 0.982 NULL pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 32 0 0 27 9 25 FBXO31 0 genome.wustl.edu 37 16 87368985 87368985 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 87368985 87368985 A G SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known silent c.921 p.G307 0.994 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 51 0 0 39 7 15.2174 JPH3 0 genome.wustl.edu 37 16 87678007 87678007 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 87678007 87678007 G A SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.526 p.A176T 0.995 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 78 0 0 55 16 22.5352 JPH3 0 genome.wustl.edu 37 16 87678282 87678282 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 87678282 87678282 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known silent c.801 p.G267 0.993 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 96 0 0 58 10 14.7059 ZFPM1 0 genome.wustl.edu 37 16 88599263 88599263 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 88599263 88599263 A G SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known missense c.1109 p.N370S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 94 0 0 59 11 15.7143 MVD 0 genome.wustl.edu 37 16 88724403 88724403 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 88724403 88724403 T C SNP MVD ENST00000301012 human ensembl 74_37 -1 known missense c.176 p.D59G 1.000 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb - no_errors MVD HGNC ENSG00000167508 121 0 0 77 22 22.2222 CBFA2T3 0 genome.wustl.edu 37 16 88951603 88951603 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 88951603 88951603 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.968 p.P323L 0.967 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 36 0 0 36 10 21.7391 CDH15 0 genome.wustl.edu 37 16 89261471 89261471 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 89261471 89261471 G A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.2353 p.G785R 0.771 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 47 0 0 30 10 25 ANKRD11 0 genome.wustl.edu 37 16 89346505 89346505 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 89346505 89346505 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.6445 p.A2149T 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 42 0 0 45 14 23.7288 ANKRD11 0 genome.wustl.edu 37 16 89348369 89348369 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 89348369 89348369 A G SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.4581 p.D1527 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 129 0 0 86 23 21.1009 DPEP1 0 genome.wustl.edu 37 16 89703685 89703685 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 89703685 89703685 C T SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known missense c.665 p.A222V 0.022 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 41 0 0 45 10 18.1818 SPATA2L 0 genome.wustl.edu 37 16 89764463 89764463 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 89764463 89764463 G A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known missense c.554 p.A185V 0.616 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 27 0 0 21 5 19.2308 TUBB3 0 genome.wustl.edu 37 16 90002087 90002087 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 90002087 90002087 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.1228 p.E410K 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 143 0 0 124 40 24.3902 DBNDD1 0 genome.wustl.edu 37 16 90075263 90075263 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 90075263 90075263 A G SNP DBNDD1 ENST00000568838 human ensembl 74_37 -1 known missense c.608 p.M203T 1.000 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD1 HGNC ENSG00000003249 24 0 0 11 2 15.3846 MYH13 0 genome.wustl.edu 37 17 10247249 10247249 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 10247249 10247249 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.1762 p.V588M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 173 1 0.574713 122 32 20.7792 MYH13 0 genome.wustl.edu 37 17 10263318 10263318 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 10263318 10263318 T C SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.604 p.T202A 0.681 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 131 0 0 79 14 15.0538 MYH4 0 genome.wustl.edu 37 17 10356187 10356187 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 10356187 10356187 T C SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.3174 p.K1058 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 453 1 0.220264 318 83 20.6983 MYH3 0 genome.wustl.edu 37 17 10545866 10545866 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 10545866 10545866 T C SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.1756 p.T586A 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 238 1 0.41841 143 24 14.3713 TUSC5 0 genome.wustl.edu 37 17 1183350 1183350 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 1183350 1183350 G A SNP TUSC5 ENST00000333813 human ensembl 74_37 +1 known missense c.55 p.A19T 0.002 NULL pfam_CD225/Dispanin_fam - no_errors TUSC5 HGNC ENSG00000184811 114 1 0.869565 90 37 29.1339 MYOCD 0 genome.wustl.edu 37 17 12639545 12639545 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 12639545 12639545 G A SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.483 p.G161 0.830 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 361 0 0 258 49 15.9609 MYOCD 0 genome.wustl.edu 37 17 12649294 12649294 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 12649294 12649294 A G SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.1030 p.T344A 0.872 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 428 0 0 254 45 15.0502 SLC43A2 0 genome.wustl.edu 37 17 1489250 1489250 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 1489250 1489250 A G SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.1186 p.C396R 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 29 0 0 19 3 13.6364 SCARF1 0 genome.wustl.edu 37 17 1538649 1538649 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 1538649 1538649 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known silent c.1896 p.A632 0.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 42 0 0 32 4 11.1111 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 188 1 0.529101 139 34 19.6532 ADORA2B 0 genome.wustl.edu 37 17 15848647 15848647 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 15848647 15848647 T C SNP ADORA2B ENST00000304222 human ensembl 74_37 +1 known missense c.85 p.C29R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2B HGNC ENSG00000170425 9 0 0 11 4 26.6667 ZSWIM7 0 genome.wustl.edu 37 17 15881300 15881300 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 15881300 15881300 G A SNP ZSWIM7 ENST00000399280 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZSWIM7 HGNC ENSG00000214941 109 0 0 84 27 24.3243 NCOR1 0 genome.wustl.edu 37 17 15989674 15989674 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 15989674 15989674 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.3099 p.P1033 0.077 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 137 0 0 91 24 20.8696 TRPV2 0 genome.wustl.edu 37 17 16335135 16335135 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 16335135 16335135 A G SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.1625 p.Y542C 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 120 0 0 73 18 19.7802 FAM211A 0 genome.wustl.edu 37 17 16347255 16347255 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 16347255 16347255 T C SNP FAM211A ENST00000470794 human ensembl 74_37 -1 known missense c.682 p.T228A 0.495 NULL NULL - no_errors FAM211A HGNC ENSG00000181350 83 0 0 66 15 18.5185 ZNF624 0 genome.wustl.edu 37 17 16527608 16527608 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 16527608 16527608 T C SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.592 p.T198A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF624 HGNC ENSG00000197566 245 0 0 203 51 20.0787 COPS3 0 genome.wustl.edu 37 17 17168289 17168289 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 17168289 17168289 A G SNP COPS3 ENST00000268717 human ensembl 74_37 -1 known silent c.448 p.L150 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 180 0 0 101 34 25.1852 RAI1 0 genome.wustl.edu 37 17 17712704 17712704 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 17712704 17712704 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.5660 p.G1887D 1.000 smart_Znf_PHD smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 308 0 0 183 53 22.4576 TOM1L2 0 genome.wustl.edu 37 17 17764788 17764788 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 17764788 17764788 A G SNP TOM1L2 ENST00000379504 human ensembl 74_37 -1 known splice_site c.1278+2 e12+2 1.000 - - - no_errors TOM1L2 HGNC ENSG00000175662 77 0 0 51 17 25 LRRC48 0 genome.wustl.edu 37 17 17891390 17891390 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 17891390 17891390 A G SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known missense c.422 p.N141S 1.000 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 42 0 0 29 6 17.1429 LRRC48 0 genome.wustl.edu 37 17 17898317 17898317 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 17898317 17898317 C T SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known missense c.716 p.A239V 0.948 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 56 0 0 37 16 30.1887 DRG2 0 genome.wustl.edu 37 17 18005257 18005257 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18005257 18005257 T C SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.752 p.I251T 1.000 superfamily_P-loop_NTPase pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 30 0 0 23 6 20.6897 DRG2 0 genome.wustl.edu 37 17 18010553 18010553 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18010553 18010553 A G SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known silent c.1094 p.*365 0.994 NULL pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 28 0 0 33 6 15.3846 MYO15A 0 genome.wustl.edu 37 17 18043900 18043900 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18043900 18043900 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.5281 p.V1761I 0.241 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 223 0 0 134 36 21.1765 FLII 0 genome.wustl.edu 37 17 18148506 18148506 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18148506 18148506 G A SNP FLII ENST00000578558 human ensembl 74_37 -1 novel missense c.1985 p.T662M 0.971 NULL pfam_Leu-rich_rpt,pfam_Gelsolin_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 228 0 0 140 49 25.9259 TOP3A 0 genome.wustl.edu 37 17 18181368 18181368 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18181368 18181368 G A SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known silent c.2448 p.G816 0.949 pfam_Znf_GRF pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 137 0 0 88 22 20 RTN4RL1 0 genome.wustl.edu 37 17 1840972 1840972 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 1840972 1840972 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known silent c.144 p.I48 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 22 0 0 20 6 23.0769 RTN4RL1 0 genome.wustl.edu 37 17 1841027 1841027 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 1841027 1841027 A G SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.89 p.V30A 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 25 0 0 22 5 18.5185 TBC1D28 0 genome.wustl.edu 37 17 18542507 18542507 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18542507 18542507 A G SNP TBC1D28 ENST00000345096 human ensembl 74_37 -1 known missense c.179 p.V60A 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D28 HGNC ENSG00000189375 95 0 0 99 7 6.60377 FBXW10 0 genome.wustl.edu 37 17 18673283 18673283 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18673283 18673283 G A SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.1978 p.A660T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 459 0 0 291 71 19.6133 FAM83G 0 genome.wustl.edu 37 17 18907282 18907282 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 18907282 18907282 A G SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.73 p.F25L 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 59 0 0 40 12 23.0769 MAPK7 0 genome.wustl.edu 37 17 19284578 19284578 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 19284578 19284578 T C SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known silent c.1056 p.D352 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK7 HGNC ENSG00000166484 73 0 0 69 17 19.7674 SMG6 0 genome.wustl.edu 37 17 2076067 2076067 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 2076067 2076067 T C SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.3242 p.D1081G 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 105 0 0 75 20 21.0526 CLUH 0 genome.wustl.edu 37 17 2604947 2604947 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 2604947 2604947 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.590 p.R197Q 1.000 superfamily_GSKIP_dom superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 12 0 0 8 3 27.2727 C17orf97 0 genome.wustl.edu 37 17 263612 263612 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 263612 263612 C T SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known silent c.978 p.H326 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 38 0 0 35 10 22.2222 TNFAIP1 0 genome.wustl.edu 37 17 26671585 26671585 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 26671585 26671585 G A SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.910 p.D304N 0.998 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 58 0 0 35 14 28.5714 VTN 0 genome.wustl.edu 37 17 26695960 26695960 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 26695960 26695960 G A SNP VTN ENST00000226218 human ensembl 74_37 -1 known silent c.759 p.N253 0.001 superfamily_Hemopexin-like_dom pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 152 0 0 87 21 19.4444 VTN 0 genome.wustl.edu 37 17 26697198 26697198 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 26697198 26697198 T C SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.27 p.I9M 0.043 NULL pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 149 0 0 104 21 16.8 ALDOC 0 genome.wustl.edu 37 17 26900951 26900951 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 26900951 26900951 T C SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known silent c.801 p.G267 0.935 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 244 0 0 156 35 18.3246 KIAA0100 0 genome.wustl.edu 37 17 26962262 26962262 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 26962262 26962262 A G SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.2343 p.S781 0.996 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 157 0 0 121 27 18.2432 SUPT6H 0 genome.wustl.edu 37 17 27011678 27011678 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27011678 27011678 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known silent c.2304 p.D768 0.988 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 167 0 0 118 23 16.3121 SUPT6H 0 genome.wustl.edu 37 17 27014226 27014226 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27014226 27014226 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.2821 p.K941E 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 169 0 0 127 32 20.1258 SUPT6H 0 genome.wustl.edu 37 17 27016471 27016471 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27016471 27016471 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known silent c.3234 p.E1078 0.995 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 135 0 0 101 23 18.5484 FLOT2 0 genome.wustl.edu 37 17 27208887 27208887 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27208887 27208887 G A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.859 p.R287C 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 93 0 0 64 20 23.8095 TIAF1 0 genome.wustl.edu 37 17 27400961 27400961 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27400961 27400961 T C SNP TIAF1 ENST00000359450 human ensembl 74_37 -1 known missense c.257 p.Q86R 0.000 NULL NULL - no_errors TIAF1 HGNC ENSG00000221995 324 0 0 236 49 17.193 MYO18A 0 genome.wustl.edu 37 17 27425890 27425890 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27425890 27425890 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.3734 p.P1245L 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 97 0 0 64 19 22.8916 TAOK1 0 genome.wustl.edu 37 17 27802738 27802738 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27802738 27802738 T C SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known silent c.255 p.H85 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 126 0 0 68 13 16.0494 ANKRD13B 0 genome.wustl.edu 37 17 27934852 27934852 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27934852 27934852 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known silent c.207 p.A69 0.147 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 55 0 0 47 10 17.5439 EFCAB5 0 genome.wustl.edu 37 17 28417508 28417508 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 28417508 28417508 A G SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.3753 p.I1251M 0.012 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 189 0 0 137 26 15.9509 SLC6A4 0 genome.wustl.edu 37 17 28542674 28542674 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 28542674 28542674 A G SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.1031 p.L344P 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 173 0 0 89 13 12.7451 SLC6A4 0 genome.wustl.edu 37 17 28545342 28545342 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 28545342 28545342 G T SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known silent c.492 p.A164 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 50 0 0 40 10 20 GOSR1 0 genome.wustl.edu 37 17 28804459 28804459 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 28804459 28804459 C T SNP GOSR1 ENST00000225724 human ensembl 74_37 +1 known missense c.8 p.A3V 1.000 NULL NULL - no_errors GOSR1 HGNC ENSG00000108587 49 0 0 34 7 17.0732 ENSG00000264538 0 genome.wustl.edu 37 17 29061944 29061944 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 29061944 29061944 A G SNP ENSG00000264538 ENST00000497969 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SUZ12P Clone_based_vega_gene ENSG00000264538 176 0 0 115 28 19.5804 TEFM 0 genome.wustl.edu 37 17 29231314 29231314 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 29231314 29231314 G A SNP TEFM ENST00000581216 human ensembl 74_37 -1 known nonsense c.265 p.R89* 0.983 NULL superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 182 0 0 114 31 21.3793 NF1 0 genome.wustl.edu 37 17 29550514 29550514 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 29550514 29550514 A G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.1774 p.S592G 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 198 0 0 130 35 21.2121 NF1 0 genome.wustl.edu 37 17 29559874 29559874 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 29559874 29559874 A G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known silent c.3471 p.V1157 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 74 0 0 68 9 11.6883 NF1 0 genome.wustl.edu 37 17 29701123 29701123 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 29701123 29701123 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.8470 p.Q2824* 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 106 0 0 78 19 19.5876 OR1D2 0 genome.wustl.edu 37 17 2996177 2996177 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 2996177 2996177 C T SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known silent c.114 p.T38 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 227 1 0.438596 181 43 19.1964 UTP6 0 genome.wustl.edu 37 17 30190399 30190399 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 30190399 30190399 C T SNP UTP6 ENST00000261708 human ensembl 74_37 -1 known missense c.1773 p.M591I 0.988 NULL pfam_U3_snoRNA_assoc-6,smart_HAT - no_errors UTP6 HGNC ENSG00000108651 451 0 0 281 69 19.7143 RHOT1 0 genome.wustl.edu 37 17 30536447 30536447 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 30536447 30536447 C A SNP RHOT1 ENST00000358365 human ensembl 74_37 +1 known silent c.1818 p.V606 1.000 pirsf_Rho_GTPase_Mt pirsf_Rho_GTPase_Mt,pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_dom,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 120 0 0 70 15 17.6471 MYO1D 0 genome.wustl.edu 37 17 30986329 30986329 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 30986329 30986329 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.2149 p.R717W 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 140 0 0 138 24 14.8148 OR1A2 0 genome.wustl.edu 37 17 3101155 3101155 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 3101155 3101155 T C SNP OR1A2 ENST00000381951 human ensembl 74_37 +1 known silent c.343 p.L115 0.044 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 171 0 0 138 33 19.2982 TMEM98 0 genome.wustl.edu 37 17 31260324 31260324 + Splice_Site SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 31260324 31260324 G A SNP TMEM98 ENST00000394642 human ensembl 74_37 +1 known splice_site c.263+1 e2+1 1.000 - - - no_errors TMEM98 HGNC ENSG00000006042 167 0 0 119 26 17.931 ASIC2 0 genome.wustl.edu 37 17 31438937 31438937 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 31438937 31438937 G A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.857 p.T286I 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 133 0 0 103 21 16.9355 OR1E1 0 genome.wustl.edu 37 17 3301298 3301298 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 3301298 3301298 A G SNP OR1E1 ENST00000322608 human ensembl 74_37 -1 known missense c.407 p.M136T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 83 0 0 45 13 22.4138 FNDC8 0 genome.wustl.edu 37 17 33448908 33448908 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 33448908 33448908 A G SNP FNDC8 ENST00000158009 human ensembl 74_37 +1 known missense c.196 p.T66A 0.003 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC8 HGNC ENSG00000073598 122 0 0 81 29 26.3636 NLE1 0 genome.wustl.edu 37 17 33467011 33467011 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 33467011 33467011 G T SNP NLE1 ENST00000442241 human ensembl 74_37 -1 known silent c.237 p.S79 0.956 NULL pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 75 0 0 57 8 12.3077 SLFN12 0 genome.wustl.edu 37 17 33738930 33738930 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 33738930 33738930 T C SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known missense c.1164 p.I388M 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 299 0 0 231 56 19.5122 SLFN13 0 genome.wustl.edu 37 17 33768197 33768197 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 33768197 33768197 T C SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.2111 p.Y704C 0.999 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 357 2 0.557103 244 63 20.5212 SLFN13 0 genome.wustl.edu 37 17 33770835 33770835 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 33770835 33770835 C T SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.1171 p.A391T 0.003 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 178 0 0 140 25 15.1515 ENSG00000266999 0 genome.wustl.edu 37 17 34236486 34236486 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 34236486 34236486 T C SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 75 0 0 52 13 20 TRPV3 0 genome.wustl.edu 37 17 3424299 3424299 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 3424299 3424299 A G SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.1778 p.V593A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 146 0 0 99 25 20.1613 TBC1D3B 0 genome.wustl.edu 37 17 34499221 34499221 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 34499221 34499221 C T SNP TBC1D3B ENST00000398801 human ensembl 74_37 -1 known missense c.490 p.G164R 0.984 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3B HGNC ENSG00000224226 1046 1 0.095511 722 50 6.47668 ACACA 0 genome.wustl.edu 37 17 35550328 35550328 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 35550328 35550328 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.4187 p.R1396Q 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 74 0 0 58 19 24.6753 SYNRG 0 genome.wustl.edu 37 17 35880674 35880674 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 35880674 35880674 T A SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.3744 p.G1248 0.572 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 114 0 0 60 16 21.0526 SYNRG 0 genome.wustl.edu 37 17 35902351 35902351 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 35902351 35902351 A G SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.2925 p.S975 0.018 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 270 0 0 193 43 18.2203 LOC101929950 0 genome.wustl.edu 37 17 36357204 36357204 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 36357204 36357204 A G SNP LOC101929950 ENST00000312412 human ensembl 74_37 -1 known missense c.1049 p.V350A 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors RP11-1407O15.2 Clone_based_vega_gene ENSG00000174093 71 0 0 72 6 7.69231 GPR179 0 genome.wustl.edu 37 17 36483989 36483989 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 36483989 36483989 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.5463 p.E1821D 0.669 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 351 1 0.284091 233 48 17.0819 MLLT6 0 genome.wustl.edu 37 17 36864113 36864113 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 36864113 36864113 T C SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.342 p.D114 0.982 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 28 0 0 24 8 25 FBXL20 0 genome.wustl.edu 37 17 37420479 37420479 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 37420479 37420479 T C SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known missense c.1152 p.I384M 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 266 0 0 193 62 24.3137 CDK12 0 genome.wustl.edu 37 17 37627217 37627217 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 37627217 37627217 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.1132 p.R378C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 164 0 0 124 26 17.3333 PNMT 0 genome.wustl.edu 37 17 37826227 37826227 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 37826227 37826227 G A SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.434 p.R145H 0.947 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 44 0 0 38 15 28.3019 MED24 0 genome.wustl.edu 37 17 38179049 38179049 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38179049 38179049 T C SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.2281 p.T761A 0.965 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 50 0 0 36 6 14.2857 THRA 0 genome.wustl.edu 37 17 38240097 38240097 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38240097 38240097 C T SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.232 p.R78C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 192 0 0 130 24 15.5844 RAPGEFL1 0 genome.wustl.edu 37 17 38345469 38345469 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38345469 38345469 G A SNP RAPGEFL1 ENST00000264644 human ensembl 74_37 +1 known missense c.338 p.R113H 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RAPGEFL1 HGNC ENSG00000108352 314 0 0 231 53 18.662 ATP2A3 0 genome.wustl.edu 37 17 3839611 3839611 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 3839611 3839611 C T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.2474 p.R825Q 0.003 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 123 1 0.806452 87 24 21.6216 ATP2A3 0 genome.wustl.edu 37 17 3850769 3850769 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 3850769 3850769 C T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known silent c.1011 p.P337 0.931 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 106 0 0 62 24 27.907 SMARCE1 0 genome.wustl.edu 37 17 38798685 38798685 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38798685 38798685 C A SNP SMARCE1 ENST00000474246 human ensembl 74_37 -1 putative missense c.178 p.A60S 1.000 NULL NULL - no_errors SMARCE1 HGNC ENSG00000073584 126 0 0 82 18 18 KRT25 0 genome.wustl.edu 37 17 38904579 38904579 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38904579 38904579 T C SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.1303 p.I435V 0.994 NULL pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 295 0 0 194 51 20.8163 KRT27 0 genome.wustl.edu 37 17 38933833 38933833 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38933833 38933833 A G SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.1124 p.L375P 0.977 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 342 0 0 207 63 23.3333 KRT28 0 genome.wustl.edu 37 17 38953472 38953472 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38953472 38953472 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.752 p.P251L 0.998 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 138 0 0 79 24 23.301 KRT28 0 genome.wustl.edu 37 17 38955785 38955785 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38955785 38955785 A G SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.361 p.W121R 0.956 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 372 0 0 260 43 14.1914 KRT12 0 genome.wustl.edu 37 17 39019476 39019476 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39019476 39019476 T A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known silent c.1215 p.A405 0.010 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 40 0 0 39 13 25 KRTAP9-8 0 genome.wustl.edu 37 17 39394461 39394461 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39394461 39394461 A G SNP KRTAP9-8 ENST00000254072 human ensembl 74_37 +1 known missense c.158 p.Q53R 0.000 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 100 0 0 72 13 15.2941 KRT33A 0 genome.wustl.edu 37 17 39504875 39504875 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39504875 39504875 A G SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.448 p.S150P 0.181 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 117 0 0 77 20 20.6186 KRT33B 0 genome.wustl.edu 37 17 39521180 39521180 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39521180 39521180 G T SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known missense c.948 p.S316R 0.001 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 93 0 0 69 7 9.21053 KRT33B 0 genome.wustl.edu 37 17 39521248 39521248 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39521248 39521248 A C SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known missense c.880 p.Y294D 0.217 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 65 0 0 51 10 16.3934 KRT32 0 genome.wustl.edu 37 17 39616434 39616434 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39616434 39616434 G A SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.1275 p.C425 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 22 0 0 21 3 12.5 KRT32 0 genome.wustl.edu 37 17 39622129 39622129 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39622129 39622129 G T SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known missense c.604 p.L202M 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 87 0 0 68 12 15 KRT13 0 genome.wustl.edu 37 17 39661386 39661386 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39661386 39661386 C T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known nonsense c.417 p.W139* 0.998 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 148 0 0 94 17 15.3153 HAP1 0 genome.wustl.edu 37 17 39883656 39883656 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39883656 39883656 T C SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known missense c.1325 p.D442G 0.626 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 98 0 0 77 11 12.5 JUP 0 genome.wustl.edu 37 17 39913734 39913734 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39913734 39913734 T C SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.1979 p.Y660C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 178 0 0 126 26 17.1053 FKBP10 0 genome.wustl.edu 37 17 39973321 39973321 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39973321 39973321 A G SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.257 p.N86S 0.002 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 83 0 0 69 13 15.8537 FKBP10 0 genome.wustl.edu 37 17 39973411 39973411 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39973411 39973411 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.347 p.R116H 0.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 98 0 0 67 17 20.2381 KLHL11 0 genome.wustl.edu 37 17 40021263 40021263 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40021263 40021263 A G SNP KLHL11 ENST00000319121 human ensembl 74_37 -1 known missense c.361 p.Y121H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 29 0 0 16 5 23.8095 ACLY 0 genome.wustl.edu 37 17 40070067 40070067 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40070067 40070067 A G SNP ACLY ENST00000352035 human ensembl 74_37 -1 known silent c.60 p.C20 0.943 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 251 1 0.396825 196 48 19.6721 DHX58 0 genome.wustl.edu 37 17 40263478 40263478 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40263478 40263478 C T SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.206 p.R69H 0.002 pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 50 0 0 49 11 18.3333 PSMC3IP 0 genome.wustl.edu 37 17 40726185 40726185 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40726185 40726185 T C SNP PSMC3IP ENST00000393795 human ensembl 74_37 -1 known missense c.269 p.D90G 1.000 pfam_TBPIP,pfam_BlaI_family pfam_TBPIP,pfam_BlaI_family - no_errors PSMC3IP HGNC ENSG00000131470 72 0 0 48 13 21.3115 TUBG2 0 genome.wustl.edu 37 17 40817819 40817819 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40817819 40817819 T C SNP TUBG2 ENST00000251412 human ensembl 74_37 +1 known missense c.817 p.Y273H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Delta_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 148 0 0 93 24 20.5128 PLEKHH3 0 genome.wustl.edu 37 17 40821468 40821468 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40821468 40821468 G A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.2185 p.L729F 1.000 pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 42 0 0 32 12 27.2727 CNTNAP1 0 genome.wustl.edu 37 17 40844011 40844011 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40844011 40844011 T C SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known splice_site c.2530+2 e16+2 1.000 - - - no_errors CNTNAP1 HGNC ENSG00000108797 211 0 0 161 37 18.6869 WNK4 0 genome.wustl.edu 37 17 40937399 40937399 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40937399 40937399 A G SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.1375 p.M459V 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 14 0 0 4 2 33.3333 ANKFY1 0 genome.wustl.edu 37 17 4098306 4098306 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4098306 4098306 C T SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.1465 p.G489S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 64 0 0 44 3 6.38298 AOC2 0 genome.wustl.edu 37 17 40997488 40997488 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40997488 40997488 T C SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.845 p.V282A 0.100 superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 128 0 0 121 31 20.3947 ANKFY1 0 genome.wustl.edu 37 17 4111302 4111302 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4111302 4111302 A G SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.784 p.Y262H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 234 0 0 188 45 19.3133 IFI35 0 genome.wustl.edu 37 17 41165193 41165193 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 41165193 41165193 A G SNP IFI35 ENST00000438323 human ensembl 74_37 +1 known missense c.250 p.T84A 0.878 pfam_Nmi/IFP35_dom pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors IFI35 HGNC ENSG00000068079 277 2 0.716846 146 49 25.1282 MPP3 0 genome.wustl.edu 37 17 41907103 41907103 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 41907103 41907103 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.360 p.P120 0.088 pfam_L27_C,superfamily_PDZ,smart_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 112 0 0 81 13 13.8298 MPP3 0 genome.wustl.edu 37 17 41907449 41907449 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 41907449 41907449 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.249 p.S83 0.008 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 41 0 0 19 6 24 ATXN7L3 0 genome.wustl.edu 37 17 42271691 42271691 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42271691 42271691 C G SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known missense c.1005 p.K335N 1.000 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 99 0 0 82 11 11.828 SLC4A1 0 genome.wustl.edu 37 17 42334882 42334882 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42334882 42334882 C T SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.1462 p.V488M 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 122 0 0 71 16 18.3908 SLC25A39 0 genome.wustl.edu 37 17 42397576 42397576 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42397576 42397576 C T SNP SLC25A39 ENST00000377095 human ensembl 74_37 -1 known missense c.952 p.G318R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 80 0 0 48 13 21.3115 ITGA2B 0 genome.wustl.edu 37 17 42457166 42457166 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42457166 42457166 C T SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1769 p.R590Q 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 122 0 0 116 29 20 GPATCH8 0 genome.wustl.edu 37 17 42476888 42476888 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42476888 42476888 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2557 p.R853C 0.997 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 190 0 0 142 42 22.8261 GPATCH8 0 genome.wustl.edu 37 17 42477017 42477017 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42477017 42477017 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2428 p.R810W 0.724 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 150 0 0 115 41 26.2821 C17orf104 0 genome.wustl.edu 37 17 42745051 42745051 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42745051 42745051 A G SNP C17orf104 ENST00000409122 human ensembl 74_37 +1 known missense c.1772 p.N591S 0.966 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 45 0 0 40 10 20 EFTUD2 0 genome.wustl.edu 37 17 42940176 42940176 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 42940176 42940176 C T SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known silent c.1512 p.G504 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 82 0 0 65 13 16.6667 HEXIM1 0 genome.wustl.edu 37 17 43227060 43227060 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 43227060 43227060 A G SNP HEXIM1 ENST00000332499 human ensembl 74_37 +1 known missense c.503 p.Y168C 0.997 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 132 0 0 79 24 23.301 HEXIM2 0 genome.wustl.edu 37 17 43246699 43246699 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 43246699 43246699 C T SNP HEXIM2 ENST00000307275 human ensembl 74_37 +1 known silent c.384 p.R128 0.002 NULL NULL - no_errors HEXIM2 HGNC ENSG00000168517 51 0 0 46 8 14.8148 MAPT 0 genome.wustl.edu 37 17 44039745 44039745 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 44039745 44039745 C T SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.42 p.H14 0.000 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 45 0 0 35 3 7.89474 GGT6 0 genome.wustl.edu 37 17 4462881 4462881 + Nonsense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4462881 4462881 G C SNP GGT6 ENST00000574154 human ensembl 74_37 -1 known nonsense c.315 p.Y105* 0.907 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 29 0 0 24 8 25 WNT3 0 genome.wustl.edu 37 17 44845745 44845745 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 44845745 44845745 A G SNP WNT3 ENST00000225512 human ensembl 74_37 -1 known missense c.1009 p.C337R 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3 HGNC ENSG00000108379 120 0 0 84 23 21.4953 CDC27 0 genome.wustl.edu 37 17 45199935 45199935 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 45199935 45199935 G A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.2285 p.A762V 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 202 0 0 172 41 19.2488 EFCAB13 0 genome.wustl.edu 37 17 45425174 45425174 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 45425174 45425174 C T SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known missense c.518 p.A173V 0.987 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 127 0 0 99 20 16.8067 MRPL10 0 genome.wustl.edu 37 17 45906036 45906036 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 45906036 45906036 C T SNP MRPL10 ENST00000351111 human ensembl 74_37 -1 known missense c.53 p.G18D 1.000 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRPL10 HGNC ENSG00000159111 57 0 0 48 10 17.2414 SCRN2 0 genome.wustl.edu 37 17 45917722 45917722 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 45917722 45917722 A G SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.191 p.V64A 1.000 pfam_Pept_C45_AAT pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 59 0 0 42 8 16 HOXB2 0 genome.wustl.edu 37 17 46621965 46621965 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 46621965 46621965 G A SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known silent c.309 p.S103 0.678 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 18 0 0 7 3 30 TM4SF5 0 genome.wustl.edu 37 17 4685894 4685894 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4685894 4685894 T G SNP TM4SF5 ENST00000270560 human ensembl 74_37 +1 known missense c.355 p.L119V 0.017 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC ENSG00000142484 111 0 0 81 17 17.3469 SNF8 0 genome.wustl.edu 37 17 47022068 47022068 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 47022068 47022068 G A SNP SNF8 ENST00000502492 human ensembl 74_37 -1 known missense c.29 p.A10V 1.000 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 - no_errors SNF8 HGNC ENSG00000159210 203 0 0 122 27 18.1208 ZNF652 0 genome.wustl.edu 37 17 47394489 47394489 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 47394489 47394489 G A SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known missense c.599 p.A200V 0.987 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 161 0 0 106 24 18.4615 SLC35B1 0 genome.wustl.edu 37 17 47781497 47781497 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 47781497 47781497 T C SNP SLC35B1 ENST00000415270 human ensembl 74_37 -1 known missense c.731 p.N244S 1.000 pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom - no_errors SLC35B1 HGNC ENSG00000121073 180 0 0 108 23 17.5573 MINK1 0 genome.wustl.edu 37 17 4796762 4796762 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4796762 4796762 G A SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.2434 p.E812K 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 143 0 0 79 15 15.9574 DLX4 0 genome.wustl.edu 37 17 48050389 48050389 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 48050389 48050389 C T SNP DLX4 ENST00000411890 human ensembl 74_37 +1 known missense c.20 p.P7L 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX4 HGNC ENSG00000108813 43 0 0 45 5 10 ITGA3 0 genome.wustl.edu 37 17 48158769 48158769 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 48158769 48158769 G A SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known silent c.2916 p.T972 0.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 29 0 0 12 10 45.4545 LRRC59 0 genome.wustl.edu 37 17 48462559 48462559 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 48462559 48462559 C T SNP LRRC59 ENST00000225972 human ensembl 74_37 -1 known missense c.596 p.R199Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC59 HGNC ENSG00000108829 301 0 0 188 61 24.498 ABCC3 0 genome.wustl.edu 37 17 48746229 48746229 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 48746229 48746229 T C SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.1886 p.I629T 0.936 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 40 0 0 28 6 17.6471 ABCC3 0 genome.wustl.edu 37 17 48765057 48765057 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 48765057 48765057 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.4441 p.A1481T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 176 0 0 109 34 23.7762 WFIKKN2 0 genome.wustl.edu 37 17 48917518 48917518 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 48917518 48917518 G A SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.869 p.R290Q 0.073 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 53 0 0 50 12 19.3548 KIF1C 0 genome.wustl.edu 37 17 4905794 4905794 + Silent SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4905794 4905794 A C SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known silent c.465 p.R155 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 419 0 0 289 71 19.7222 SPAG9 0 genome.wustl.edu 37 17 49074005 49074005 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 49074005 49074005 C T SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.1889 p.R630H 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 97 0 0 79 15 15.9574 NME1-NME2 0 genome.wustl.edu 37 17 49245649 49245649 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 49245649 49245649 G A SNP NME1-NME2 ENST00000608447 human ensembl 74_37 +1 known missense c.593 p.R198Q 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME1-NME2 HGNC ENSG00000243678 211 0 0 147 30 16.9492 KIF1C 0 genome.wustl.edu 37 17 4927012 4927012 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4927012 4927012 G A SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.2878 p.G960R 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 28 0 0 24 5 17.2414 MBTD1 0 genome.wustl.edu 37 17 49284306 49284306 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 49284306 49284306 T C SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known missense c.547 p.T183A 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 156 0 0 89 21 19.0909 CA10 0 genome.wustl.edu 37 17 50008372 50008372 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 50008372 50008372 C T SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.275 p.R92H 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 415 0 0 253 58 18.6495 SCIMP 0 genome.wustl.edu 37 17 5114221 5114221 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 5114221 5114221 C T SNP SCIMP ENST00000574081 human ensembl 74_37 -1 known missense c.313 p.A105T 0.000 NULL NULL - no_errors SCIMP HGNC ENSG00000161929 208 0 0 113 26 18.705 KIF2B 0 genome.wustl.edu 37 17 51900667 51900667 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 51900667 51900667 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.273 p.P91 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 240 0 0 162 40 19.802 RABEP1 0 genome.wustl.edu 37 17 5253788 5253788 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 5253788 5253788 T C SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known missense c.827 p.L276S 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 108 0 0 54 16 22.8571 RABEP1 0 genome.wustl.edu 37 17 5264841 5264841 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 5264841 5264841 G A SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known silent c.1434 p.A478 0.005 pfam_Rabaptin_coiled-coil,prints_Rabaptin pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 106 0 0 89 24 21.2389 STXBP4 0 genome.wustl.edu 37 17 53078195 53078195 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 53078195 53078195 A G SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known silent c.525 p.V175 0.897 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 172 0 0 115 25 17.8571 DGKE 0 genome.wustl.edu 37 17 54912353 54912353 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 54912353 54912353 A G SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.197 p.D66G 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 93 0 0 69 17 19.7674 TRIM25 0 genome.wustl.edu 37 17 54981735 54981735 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 54981735 54981735 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known missense c.808 p.V270I 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 391 0 0 270 74 21.5116 VEZF1 0 genome.wustl.edu 37 17 56060228 56060228 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 56060228 56060228 T C SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.560 p.Y187C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 110 0 0 94 5 5.05051 MKS1 0 genome.wustl.edu 37 17 56291683 56291683 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 56291683 56291683 T C SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known missense c.581 p.N194S 0.995 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 119 0 0 89 14 13.5922 BZRAP1 0 genome.wustl.edu 37 17 56385040 56385040 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 56385040 56385040 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.4915 p.V1639M 0.115 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 63 0 0 41 14 25.4545 TEX14 0 genome.wustl.edu 37 17 56676460 56676460 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 56676460 56676460 C A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.2264 p.R755M 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 448 0 0 277 75 21.3068 PPM1E 0 genome.wustl.edu 37 17 57057738 57057738 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 57057738 57057738 C A SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known silent c.1614 p.A538 0.998 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 126 0 0 68 24 26.087 CLTC 0 genome.wustl.edu 37 17 57759679 57759679 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 57759679 57759679 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.3490 p.A1164T 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 183 0 0 126 30 19.2308 PTRH2 0 genome.wustl.edu 37 17 57775295 57775295 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 57775295 57775295 A G SNP PTRH2 ENST00000393038 human ensembl 74_37 -1 known silent c.45 p.S15 0.015 NULL pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom,tigrfam_PTH2 - no_errors PTRH2 HGNC ENSG00000141378 76 0 0 56 16 22.2222 HEATR6 0 genome.wustl.edu 37 17 58137347 58137347 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 58137347 58137347 G A SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known silent c.1527 p.S509 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 412 0 0 284 56 16.4706 CA4 0 genome.wustl.edu 37 17 58234823 58234823 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 58234823 58234823 G A SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.304 p.G102R 0.974 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 142 0 0 106 29 21.4815 USP32 0 genome.wustl.edu 37 17 58297062 58297062 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 58297062 58297062 C T SNP USP32 ENST00000300896 human ensembl 74_37 -1 known silent c.1836 p.R612 0.998 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 154 0 0 123 24 16.3265 PPM1D 0 genome.wustl.edu 37 17 58734051 58734051 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 58734051 58734051 C T SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known missense c.1109 p.A370V 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 125 0 0 102 27 20.9302 TBX2 0 genome.wustl.edu 37 17 59479272 59479272 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 59479272 59479272 A G SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel missense c.623 p.K208R 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 73 0 0 55 18 24.6575 TBX4 0 genome.wustl.edu 37 17 59560530 59560530 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 59560530 59560530 G A SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known missense c.1294 p.V432M 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 101 0 0 67 27 28.7234 MED13 0 genome.wustl.edu 37 17 60033126 60033126 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 60033126 60033126 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.5697 p.C1899 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 107 0 0 83 17 17 MED13 0 genome.wustl.edu 37 17 60072676 60072676 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 60072676 60072676 T C SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.2018 p.Q673R 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 284 0 0 158 35 18.1347 MARCH10 0 genome.wustl.edu 37 17 60814662 60814662 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 60814662 60814662 A G SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known silent c.567 p.C189 0.592 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 475 1 0.210084 340 90 20.9302 ACE 0 genome.wustl.edu 37 17 61573878 61573878 + Splice_Site SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 61573878 61573878 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known splice_site c.3503+1 e23+1 1.000 - - - no_errors ACE HGNC ENSG00000159640 113 0 0 97 24 19.8347 MAP3K3 0 genome.wustl.edu 37 17 61770979 61770979 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 61770979 61770979 G A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.1816 p.A606T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 128 0 0 82 16 16.3265 STRADA 0 genome.wustl.edu 37 17 61781717 61781717 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 61781717 61781717 G A SNP STRADA ENST00000336174 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADA HGNC ENSG00000266173 31 0 0 23 9 28.125 SCN4A 0 genome.wustl.edu 37 17 62018253 62018253 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 62018253 62018253 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5389 p.E1797K 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 60 0 0 44 13 22.807 PLEKHM1P 0 genome.wustl.edu 37 17 62825308 62825308 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 62825308 62825308 T C SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 31 0 0 26 7 21.2121 LRRC37A3 0 genome.wustl.edu 37 17 62856350 62856350 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 62856350 62856350 T A SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.3914 p.Y1305F 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 651 0 0 418 104 19.9234 RGS9 0 genome.wustl.edu 37 17 63221143 63221143 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 63221143 63221143 C T SNP RGS9 ENST00000584234 human ensembl 74_37 +1 known missense c.1435 p.P479S 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 210 0 0 122 43 26.0606 KIAA0753 0 genome.wustl.edu 37 17 6498335 6498335 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 6498335 6498335 G A SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known silent c.2397 p.I799 0.758 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 199 0 0 125 40 24.2424 GEMIN4 0 genome.wustl.edu 37 17 650309 650309 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 650309 650309 C T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.974 p.R325Q 0.064 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 154 0 0 115 31 21.2329 HELZ 0 genome.wustl.edu 37 17 65124796 65124796 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 65124796 65124796 T C SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.3358 p.T1120A 0.092 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 611 1 0.163399 427 91 17.5676 HELZ 0 genome.wustl.edu 37 17 65124955 65124955 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 65124955 65124955 A G SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.3199 p.F1067L 1.000 superfamily_P-loop_NTPase pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 231 1 0.431034 176 31 14.9758 HELZ 0 genome.wustl.edu 37 17 65184543 65184543 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 65184543 65184543 C T SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.1054 p.A352T 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 706 0 0 479 132 21.6039 PSMD12 0 genome.wustl.edu 37 17 65362568 65362568 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 65362568 65362568 G A SNP PSMD12 ENST00000356126 human ensembl 74_37 -1 known missense c.68 p.T23M 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 21 0 0 10 3 23.0769 NOL11 0 genome.wustl.edu 37 17 65720235 65720235 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 65720235 65720235 G A SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known missense c.590 p.G197E 0.948 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 155 0 0 132 7 5.03597 BPTF 0 genome.wustl.edu 37 17 65889599 65889599 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 65889599 65889599 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known silent c.2547 p.R849 0.742 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 149 0 0 101 23 18.5484 SLC13A5 0 genome.wustl.edu 37 17 6606404 6606404 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 6606404 6606404 G A SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.601 p.R201W 0.005 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 108 0 0 90 29 24.3697 GLOD4 0 genome.wustl.edu 37 17 663379 663379 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 663379 663379 A G SNP GLOD4 ENST00000575800 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors GLOD4 HGNC ENSG00000167699 128 0 0 103 25 19.5312 ARSG 0 genome.wustl.edu 37 17 66416706 66416706 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 66416706 66416706 T C SNP ARSG ENST00000578554 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARSG HGNC ENSG00000141337 72 0 0 43 11 20.3704 PRKAR1A 0 genome.wustl.edu 37 17 66526419 66526419 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 66526419 66526419 T C SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known silent c.975 p.G325 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 246 2 0.806452 180 48 21.0526 FAM20A 0 genome.wustl.edu 37 17 66538220 66538220 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 66538220 66538220 A G SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known missense c.1015 p.S339P 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 124 0 0 80 17 17.5258 XAF1 0 genome.wustl.edu 37 17 6661451 6661451 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 6661451 6661451 T C SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known missense c.76 p.Y26H 0.999 superfamily_TRAF-like,pfscan_Znf_TRAF superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 267 0 0 156 31 16.5775 ABCA8 0 genome.wustl.edu 37 17 66925370 66925370 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 66925370 66925370 A G SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known silent c.945 p.A315 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 83 0 0 57 13 18.5714 ABCA10 0 genome.wustl.edu 37 17 67150037 67150037 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 67150037 67150037 C A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.3900 p.E1300D 0.555 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 295 0 0 233 53 18.5315 DLG4 0 genome.wustl.edu 37 17 7096856 7096856 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7096856 7096856 C T SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known missense c.1768 p.A590T 0.948 pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 49 0 0 33 8 19.5122 EIF5A 0 genome.wustl.edu 37 17 7214949 7214949 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7214949 7214949 T C SNP EIF5A ENST00000336452 human ensembl 74_37 +1 known missense c.545 p.M182T 1.000 superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ENSG00000132507 111 0 0 84 23 21.4953 GPRC5C 0 genome.wustl.edu 37 17 72428192 72428192 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 72428192 72428192 C T SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known silent c.15 p.G5 0.531 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 21 0 0 21 5 19.2308 TMEM95 0 genome.wustl.edu 37 17 7259720 7259720 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7259720 7259720 A G SNP TMEM95 ENST00000330767 human ensembl 74_37 +1 known missense c.443 p.D148G 0.995 NULL NULL - no_errors TMEM95 HGNC ENSG00000182896 307 0 0 210 54 20.4545 TMEM104 0 genome.wustl.edu 37 17 72832138 72832138 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 72832138 72832138 C T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.803 p.A268V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 228 0 0 134 32 19.2771 TMEM104 0 genome.wustl.edu 37 17 72832395 72832395 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 72832395 72832395 C T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.1060 p.R354C 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 308 0 0 221 38 14.6718 FDXR 0 genome.wustl.edu 37 17 72860346 72860346 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 72860346 72860346 C T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.944 p.R315Q 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 46 0 0 34 14 29.1667 HID1 0 genome.wustl.edu 37 17 72959143 72959143 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 72959143 72959143 G A SNP HID1 ENST00000425042 human ensembl 74_37 -1 known silent c.421 p.L141 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 38 0 0 18 14 43.75 TMEM256-PLSCR3 0 genome.wustl.edu 37 17 7296194 7296194 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7296194 7296194 G A SNP TMEM256-PLSCR3 ENST00000573070 human ensembl 74_37 -1 known missense c.364 p.H122Y 1.000 NULL NULL - no_errors TMEM256-PLSCR3 HGNC ENSG00000187838 448 0 0 294 62 17.4157 SLC16A5 0 genome.wustl.edu 37 17 73096199 73096199 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 73096199 73096199 C T SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known silent c.441 p.G147 0.372 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 36 0 0 31 6 16.2162 RECQL5 0 genome.wustl.edu 37 17 73626707 73626707 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 73626707 73626707 G A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known silent c.1710 p.T570 0.002 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 75 0 0 56 11 16.4179 RECQL5 0 genome.wustl.edu 37 17 73646745 73646745 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 73646745 73646745 A G SNP RECQL5 ENST00000340830 human ensembl 74_37 -1 known missense c.1283 p.V428A 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 40 0 0 33 3 8.33333 ITGB4 0 genome.wustl.edu 37 17 73745107 73745107 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 73745107 73745107 C A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.3297 p.T1099 0.002 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 33 0 0 22 7 24.1379 ITGB4 0 genome.wustl.edu 37 17 73748559 73748559 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 73748559 73748559 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.4009 p.A1337T 1.000 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 165 0 0 125 27 17.7632 TRIM47 0 genome.wustl.edu 37 17 73871509 73871509 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 73871509 73871509 A G SNP TRIM47 ENST00000254816 human ensembl 74_37 -1 known silent c.1248 p.S416 0.070 pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC ENSG00000132481 73 0 0 51 9 15 POLR2A 0 genome.wustl.edu 37 17 7406583 7406583 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7406583 7406583 G T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.2900 p.R967M 1.000 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 83 0 0 92 17 15.5963 EXOC7 0 genome.wustl.edu 37 17 74097856 74097856 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74097856 74097856 C T SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.215 p.R72Q 1.000 NULL pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 124 1 0.8 110 33 23.0769 FOXJ1 0 genome.wustl.edu 37 17 74134076 74134076 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74134076 74134076 G A SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known silent c.624 p.G208 0.995 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 33 0 0 19 9 32.1429 RNF157 0 genome.wustl.edu 37 17 74154490 74154490 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74154490 74154490 A G SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known missense c.1397 p.V466A 0.002 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 212 0 0 146 28 16.092 RNF157 0 genome.wustl.edu 37 17 74158016 74158016 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74158016 74158016 G A SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known missense c.860 p.T287I 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 148 0 0 151 11 6.79012 POLR2A 0 genome.wustl.edu 37 17 7417203 7417203 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7417203 7417203 T C SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.5620 p.Y1874H 1.000 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 162 0 0 115 29 20.1389 PRPSAP1 0 genome.wustl.edu 37 17 74344633 74344633 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74344633 74344633 A G SNP PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known missense c.200 p.V67A 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 47 0 0 34 4 10.5263 UBE2O 0 genome.wustl.edu 37 17 74392545 74392545 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74392545 74392545 T G SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.2473 p.K825Q 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 340 0 0 235 64 21.4047 JMJD6 0 genome.wustl.edu 37 17 74714908 74714908 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74714908 74714908 T C SNP JMJD6 ENST00000445478 human ensembl 74_37 -1 known missense c.1115 p.H372R 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 79 0 0 66 15 18.5185 MFSD11 0 genome.wustl.edu 37 17 74737081 74737081 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74737081 74737081 T C SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known silent c.195 p.I65 0.810 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 435 0 0 290 90 23.6842 LINC00338 0 genome.wustl.edu 37 17 75085421 75085421 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 75085421 75085421 C T SNP LINC00338 ENST00000366365 human ensembl 74_37 +1 known rna NULL NULL 0.406 - - - no_errors LINC00338 HGNC ENSG00000234912 270 1 0.369004 191 50 20.7469 SEC14L1 0 genome.wustl.edu 37 17 75205464 75205464 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 75205464 75205464 A G SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1517 p.Y506C 1.000 superfamily_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 43 0 0 44 5 10.2041 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 64 0 0 40 10 20 TP53 0 genome.wustl.edu 37 17 7578407 7578407 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7578407 7578407 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.523 p.R175C 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 75 0 0 49 16 24.6154 TP53 0 genome.wustl.edu 37 17 7578419 7578419 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7578419 7578419 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.511 p.E171K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 87 0 0 56 12 17.6471 TNRC6C 0 genome.wustl.edu 37 17 76089187 76089187 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 76089187 76089187 A G SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.4135 p.S1379G 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 55 0 0 48 9 15.7895 DNAH2 0 genome.wustl.edu 37 17 7636499 7636499 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7636499 7636499 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.494 p.G165D 0.929 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 160 0 0 124 37 22.9814 DNAH2 0 genome.wustl.edu 37 17 7644171 7644171 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7644171 7644171 T C SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1550 p.M517T 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 167 0 0 127 35 21.6049 DNAH2 0 genome.wustl.edu 37 17 7646246 7646246 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7646246 7646246 T C SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.1690 p.C564R 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 33 0 0 38 6 13.6364 DNAH17 0 genome.wustl.edu 37 17 76510904 76510904 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 76510904 76510904 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4053 p.N1351K 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 58 0 0 58 18 23.6842 DNAH17 0 genome.wustl.edu 37 17 76570976 76570976 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 76570976 76570976 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.164 p.T55M 0.918 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 88 0 0 54 15 21.7391 DNAH2 0 genome.wustl.edu 37 17 7721664 7721664 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7721664 7721664 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.10422 p.E3474 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 320 0 0 239 45 15.8451 KDM6B 0 genome.wustl.edu 37 17 7748989 7748989 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7748989 7748989 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.117 p.S39 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 117 0 0 105 25 19.2308 KDM6B 0 genome.wustl.edu 37 17 7752900 7752900 + Silent SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7752900 7752900 G C SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.3294 p.G1098 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 34 0 0 26 5 16.129 CBX4 0 genome.wustl.edu 37 17 77809108 77809108 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 77809108 77809108 C T SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known silent c.333 p.A111 0.502 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 109 0 0 76 24 24 CCDC40 0 genome.wustl.edu 37 17 78063612 78063612 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 78063612 78063612 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2761 p.R921C 1.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 114 0 0 92 15 14.0187 EIF4A3 0 genome.wustl.edu 37 17 78111203 78111203 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 78111203 78111203 T A SNP EIF4A3 ENST00000269349 human ensembl 74_37 -1 known missense c.965 p.E322V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A3 HGNC ENSG00000141543 66 0 0 53 9 14.5161 RNF213 0 genome.wustl.edu 37 17 78336981 78336981 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 78336981 78336981 C A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.11435 p.P3812Q 0.943 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 137 0 0 110 24 17.9104 TRAPPC1 0 genome.wustl.edu 37 17 7834014 7834014 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7834014 7834014 C T SNP TRAPPC1 ENST00000303731 human ensembl 74_37 -1 known silent c.348 p.P116 0.001 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 90 0 0 76 17 18.2796 RNF213 0 genome.wustl.edu 37 17 78345686 78345686 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 78345686 78345686 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.12438 p.V4146 0.096 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 55 0 0 40 10 20 RPTOR 0 genome.wustl.edu 37 17 78899241 78899241 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 78899241 78899241 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.2880 p.C960 0.946 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 52 0 0 40 7 14.8936 PDE6G 0 genome.wustl.edu 37 17 79620296 79620296 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 79620296 79620296 T C SNP PDE6G ENST00000331056 human ensembl 74_37 -1 known missense c.40 p.T14A 1.000 pfam_PDE6_gamma,pirsf_PDE6_gamma pfam_PDE6_gamma,pirsf_PDE6_gamma - no_errors PDE6G HGNC ENSG00000185527 107 0 0 67 16 19.2771 ANAPC11 0 genome.wustl.edu 37 17 79857828 79857828 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 79857828 79857828 T C SNP ANAPC11 ENST00000357385 human ensembl 74_37 +1 known missense c.443 p.V148A 1.000 NULL NULL - no_errors ANAPC11 HGNC ENSG00000141552 36 0 0 28 6 17.6471 PCYT2 0 genome.wustl.edu 37 17 79867402 79867402 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 79867402 79867402 C T SNP PCYT2 ENST00000538721 human ensembl 74_37 -1 known missense c.166 p.V56M 0.999 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 106 0 0 75 19 20.2128 ASPSCR1 0 genome.wustl.edu 37 17 79968697 79968697 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 79968697 79968697 T C SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.1190 p.F397S 1.000 pfam_UBX,pfscan_UBX pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 127 0 0 82 19 18.8119 CCDC57 0 genome.wustl.edu 37 17 80159721 80159721 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 80159721 80159721 C T SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.100 p.A34T 0.928 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 51 0 0 41 10 19.6078 CD7 0 genome.wustl.edu 37 17 80274701 80274701 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 80274701 80274701 G A SNP CD7 ENST00000312648 human ensembl 74_37 -1 known missense c.239 p.T80M 0.120 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 133 0 0 99 21 17.5 FN3K 0 genome.wustl.edu 37 17 80699241 80699241 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 80699241 80699241 C T SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.440 p.T147M 0.933 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 32 0 0 29 6 17.1429 B3GNTL1 0 genome.wustl.edu 37 17 80915107 80915107 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 80915107 80915107 C T SNP B3GNTL1 ENST00000320865 human ensembl 74_37 -1 known missense c.880 p.V294M 0.985 NULL pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 191 1 0.520833 137 16 10.4575 CTC1 0 genome.wustl.edu 37 17 8136238 8136238 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8136238 8136238 T C SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known missense c.1931 p.D644G 0.987 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 444 0 0 268 78 22.5434 ARHGEF15 0 genome.wustl.edu 37 17 8222131 8222131 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8222131 8222131 T C SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1936 p.C646R 0.997 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 409 4 0.968523 262 44 14.3791 MYH10 0 genome.wustl.edu 37 17 8384695 8384695 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8384695 8384695 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5179 p.A1727T 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 89 0 0 73 17 18.8889 PIK3R6 0 genome.wustl.edu 37 17 8738627 8738627 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8738627 8738627 T C SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.608 p.E203G 0.995 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 19 0 0 19 7 26.9231 PIK3R5 0 genome.wustl.edu 37 17 8784052 8784052 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8784052 8784052 T C SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known silent c.2547 p.P849 0.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 61 0 0 33 10 23.2558 PIK3R5 0 genome.wustl.edu 37 17 8794162 8794162 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8794162 8794162 T C SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.550 p.T184A 0.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 29 0 0 21 6 22.2222 RCVRN 0 genome.wustl.edu 37 17 9808152 9808152 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 9808152 9808152 T C SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known missense c.346 p.T116A 0.038 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 209 0 0 151 35 18.8172 ABR 0 genome.wustl.edu 37 17 986819 986819 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 986819 986819 C T SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.580 p.A194T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 99 0 0 67 7 9.45946 PIEZO2 0 genome.wustl.edu 37 18 10691293 10691293 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 10691293 10691293 A G SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.811 p.Y271H 1.000 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 175 0 0 154 44 22.2222 SEH1L 0 genome.wustl.edu 37 18 12982630 12982630 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 12982630 12982630 T C SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.875 p.V292A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 311 0 0 207 41 16.5323 CEP192 0 genome.wustl.edu 37 18 13117599 13117599 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 13117599 13117599 C T SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.7432 p.P2478S 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 205 0 0 134 24 15.1899 FAM210A 0 genome.wustl.edu 37 18 13682058 13682058 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 13682058 13682058 G A SNP FAM210A ENST00000322247 human ensembl 74_37 -1 known missense c.19 p.R7W 0.125 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 218 0 0 174 40 18.6916 RNMT 0 genome.wustl.edu 37 18 13731863 13731863 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 13731863 13731863 A G SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.347 p.K116R 0.098 pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 173 0 0 130 37 22.1557 MC5R 0 genome.wustl.edu 37 18 13826335 13826335 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 13826335 13826335 A G SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.571 p.I191V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 1096 1 0.0911577 749 164 17.9628 ANKRD20A5P 0 genome.wustl.edu 37 18 14184003 14184003 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 14184003 14184003 T C SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 310 1 0.321543 226 51 18.4116 ABHD3 0 genome.wustl.edu 37 18 19283615 19283615 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 19283615 19283615 A G SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known missense c.256 p.C86R 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 166 0 0 103 15 12.7119 MIB1 0 genome.wustl.edu 37 18 19418353 19418353 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 19418353 19418353 A G SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known silent c.1857 p.L619 0.997 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 130 0 0 81 23 22.1154 GATA6 0 genome.wustl.edu 37 18 19762729 19762729 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 19762729 19762729 A G SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known silent c.1440 p.P480 0.011 smart_Znf_GATA,pfscan_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 67 0 0 48 9 15.7895 CTAGE1 0 genome.wustl.edu 37 18 19996570 19996570 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 19996570 19996570 C T SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known missense c.1205 p.R402Q 0.258 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 274 0 0 146 35 19.337 TMEM241 0 genome.wustl.edu 37 18 20889670 20889670 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 20889670 20889670 C T SNP TMEM241 ENST00000383233 human ensembl 74_37 -1 known silent c.804 p.A268 0.000 NULL NULL - no_errors TMEM241 HGNC ENSG00000134490 185 0 0 111 34 23.4483 RIOK3 0 genome.wustl.edu 37 18 21044566 21044566 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 21044566 21044566 A G SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known missense c.517 p.R173G 0.999 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 114 0 0 76 24 24 NPC1 0 genome.wustl.edu 37 18 21123433 21123433 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 21123433 21123433 A G SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.2231 p.V744A 0.027 pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 132 0 0 113 32 22.069 NPC1 0 genome.wustl.edu 37 18 21128008 21128008 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 21128008 21128008 A G SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known silent c.1719 p.D573 0.993 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 420 0 0 319 73 18.6224 NPC1 0 genome.wustl.edu 37 18 21136572 21136572 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 21136572 21136572 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.961 p.A321T 0.572 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 29 0 0 27 3 10 NPC1 0 genome.wustl.edu 37 18 21141338 21141338 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 21141338 21141338 G A SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.617 p.T206I 0.046 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 352 0 0 251 61 19.5513 LAMA3 0 genome.wustl.edu 37 18 21494727 21494727 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 21494727 21494727 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.7547 p.G2516E 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 114 0 0 82 19 18.8119 ZNF521 0 genome.wustl.edu 37 18 22804898 22804898 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 22804898 22804898 A G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2984 p.M995T 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 139 0 0 102 23 18.4 SS18 0 genome.wustl.edu 37 18 23614972 23614972 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 23614972 23614972 A G SNP SS18 ENST00000415083 human ensembl 74_37 -1 known missense c.1093 p.Y365H 1.000 NULL pfam_SS18_fam - no_errors SS18 HGNC ENSG00000141380 176 1 0.564972 138 20 12.6582 PSMA8 0 genome.wustl.edu 37 18 23731934 23731934 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 23731934 23731934 A G SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known silent c.360 p.A120 0.997 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 143 0 0 103 23 18.254 PSMA8 0 genome.wustl.edu 37 18 23758901 23758901 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 23758901 23758901 A G SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known silent c.603 p.K201 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 139 0 0 81 25 23.5849 CHST9 0 genome.wustl.edu 37 18 24722666 24722666 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 24722666 24722666 T C SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known silent c.108 p.E36 1.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 124 0 0 91 25 21.5517 METTL4 0 genome.wustl.edu 37 18 2544269 2544269 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 2544269 2544269 C T SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.1198 p.V400M 0.023 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 97 0 0 59 19 24.359 NDC80 0 genome.wustl.edu 37 18 2575051 2575051 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 2575051 2575051 G A SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known silent c.165 p.S55 0.010 pfam_Kinetochore_Ndc80 pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 62 0 0 41 13 24.0741 DSC3 0 genome.wustl.edu 37 18 28602467 28602467 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 28602467 28602467 A G SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known silent c.777 p.G259 0.601 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 121 0 0 76 18 19.1489 LPIN2 0 genome.wustl.edu 37 18 2921586 2921586 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 2921586 2921586 T C SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.2387 p.N796S 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 183 0 0 119 29 19.5946 GAREM 0 genome.wustl.edu 37 18 29867755 29867755 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 29867755 29867755 G A SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.805 p.H269Y 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 182 1 0.546448 132 28 17.5 CCDC178 0 genome.wustl.edu 37 18 30846912 30846912 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 30846912 30846912 A T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1377 p.D459E 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 94 0 0 67 13 16.25 CCDC178 0 genome.wustl.edu 37 18 30950126 30950126 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 30950126 30950126 T C SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.236 p.Y79C 0.996 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 99 0 0 69 18 20.6897 MYOM1 0 genome.wustl.edu 37 18 3100193 3100193 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 3100193 3100193 G A SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.3691 p.R1231C 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 133 0 0 107 19 15.0794 ASXL3 0 genome.wustl.edu 37 18 31251755 31251755 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 31251755 31251755 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.640 p.M214V 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 31 0 0 26 7 21.2121 ASXL3 0 genome.wustl.edu 37 18 31324921 31324921 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 31324921 31324921 A C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.5109 p.Q1703H 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 158 0 0 115 29 20.1389 ASXL3 0 genome.wustl.edu 37 18 31325827 31325827 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 31325827 31325827 T C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6015 p.T2005 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 112 0 0 91 19 17.2727 ELP2 0 genome.wustl.edu 37 18 33721158 33721158 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 33721158 33721158 T C SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known silent c.582 p.N194 0.987 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 178 0 0 131 36 21.5569 ELP2 0 genome.wustl.edu 37 18 33750064 33750064 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 33750064 33750064 T C SNP ELP2 ENST00000539560 human ensembl 74_37 +1 known missense c.2063 p.V688A 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 119 0 0 71 22 23.6559 SYT4 0 genome.wustl.edu 37 18 40853990 40853990 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 40853990 40853990 G A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.404 p.S135F 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 156 0 0 88 36 29.0323 SLC14A2 0 genome.wustl.edu 37 18 43252904 43252904 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 43252904 43252904 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.2269 p.G757S 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 227 0 0 138 45 24.5902 EPG5 0 genome.wustl.edu 37 18 43438628 43438628 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 43438628 43438628 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.7129 p.V2377I 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 114 0 0 75 31 29.2453 EPG5 0 genome.wustl.edu 37 18 43464646 43464646 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 43464646 43464646 T C SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.5240 p.Y1747C 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 190 0 0 117 21 15.2174 HAUS1 0 genome.wustl.edu 37 18 43703311 43703311 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 43703311 43703311 C A SNP HAUS1 ENST00000282058 human ensembl 74_37 +1 known missense c.647 p.S216Y 0.990 NULL NULL - no_errors HAUS1 HGNC ENSG00000152240 295 0 0 190 35 15.5556 TCEB3B 0 genome.wustl.edu 37 18 44560527 44560527 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 44560527 44560527 A G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1109 p.V370A 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 147 0 0 101 20 16.5289 HDHD2 0 genome.wustl.edu 37 18 44639388 44639388 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 44639388 44639388 C T SNP HDHD2 ENST00000300605 human ensembl 74_37 -1 known silent c.636 p.G212 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors HDHD2 HGNC ENSG00000167220 112 0 0 93 9 8.82353 HDHD2 0 genome.wustl.edu 37 18 44662707 44662707 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 44662707 44662707 T C SNP HDHD2 ENST00000586546 human ensembl 74_37 -1 known missense c.104 p.Q35R 1.000 NULL superfamily_HAD-like_dom - no_errors HDHD2 HGNC ENSG00000167220 177 0 0 117 32 21.4765 RPL17-C18orf32 0 genome.wustl.edu 37 18 47017228 47017228 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 47017228 47017228 C T SNP RPL17-C18orf32 ENST00000584895 human ensembl 74_37 -1 known missense c.151 p.V51I 1.000 pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc - no_errors RPL17-C18orf32 HGNC ENSG00000215472 228 0 0 162 35 17.7665 CXXC1 0 genome.wustl.edu 37 18 47808995 47808995 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 47808995 47808995 T C SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1951 p.T651A 1.000 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 122 0 0 81 30 27.027 ME2 0 genome.wustl.edu 37 18 48446896 48446896 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 48446896 48446896 T C SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.805 p.Y269H 1.000 pfam_Malic_N,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 111 0 0 77 17 18.0851 CCDC68 0 genome.wustl.edu 37 18 52604149 52604149 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 52604149 52604149 T C SNP CCDC68 ENST00000337363 human ensembl 74_37 -1 known missense c.386 p.N129S 0.994 NULL superfamily_Prefoldin - no_errors CCDC68 HGNC ENSG00000166510 147 0 0 126 7 5.26316 WDR7 0 genome.wustl.edu 37 18 54398627 54398627 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 54398627 54398627 T C SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known silent c.1788 p.R596 0.205 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 96 0 0 91 15 14.1509 WDR7 0 genome.wustl.edu 37 18 54483318 54483318 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 54483318 54483318 C T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.3247 p.P1083S 0.009 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 49 0 0 25 5 16.6667 FECH 0 genome.wustl.edu 37 18 55238724 55238724 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 55238724 55238724 C T SNP FECH ENST00000382873 human ensembl 74_37 -1 known silent c.381 p.E127 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC ENSG00000066926 189 0 0 124 30 19.4805 NARS 0 genome.wustl.edu 37 18 55274419 55274419 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 55274419 55274419 A G SNP NARS ENST00000256854 human ensembl 74_37 -1 known silent c.948 p.C316 0.885 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS HGNC ENSG00000134440 205 0 0 157 27 14.6739 CETN1 0 genome.wustl.edu 37 18 580755 580755 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 580755 580755 A G SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known missense c.347 p.D116G 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 128 0 0 85 21 19.8113 RNF152 0 genome.wustl.edu 37 18 59483265 59483265 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 59483265 59483265 A G SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known silent c.432 p.G144 0.039 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 110 1 0.900901 77 8 9.41176 PHLPP1 0 genome.wustl.edu 37 18 60506064 60506064 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 60506064 60506064 T C SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.1821 p.S607 1.000 pfscan_Pleckstrin_homology pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 167 0 0 116 26 18.3099 VPS4B 0 genome.wustl.edu 37 18 61064287 61064287 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 61064287 61064287 A G SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known missense c.1072 p.S358P 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 240 0 0 202 28 12.1739 SERPINB10 0 genome.wustl.edu 37 18 61582880 61582880 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 61582880 61582880 G A SNP SERPINB10 ENST00000238508 human ensembl 74_37 +1 known missense c.136 p.A46T 0.371 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 117 0 0 91 22 19.469 DSEL 0 genome.wustl.edu 37 18 65181836 65181836 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 65181836 65181836 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.40 p.M14V 0.995 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 164 0 0 126 40 24.0964 RTTN 0 genome.wustl.edu 37 18 67697273 67697273 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 67697273 67697273 G T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.5720 p.P1907H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 397 0 0 240 52 17.8082 RTTN 0 genome.wustl.edu 37 18 67715294 67715294 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 67715294 67715294 T C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.5454 p.L1818 0.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 172 0 0 109 34 23.7762 RTTN 0 genome.wustl.edu 37 18 67781679 67781679 + Splice_Site SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 67781679 67781679 A T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known splice_site c.3683+2 e27+2 1.000 - - - no_errors RTTN HGNC ENSG00000176225 193 1 0.515464 127 27 17.5325 ARHGAP28 0 genome.wustl.edu 37 18 6909002 6909002 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 6909002 6909002 T C SNP ARHGAP28 ENST00000314319 human ensembl 74_37 +1 known missense c.1597 p.Y533H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 131 0 0 82 22 21.1538 LAMA1 0 genome.wustl.edu 37 18 7014024 7014024 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 7014024 7014024 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.3153 p.S1051 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 26 0 0 20 3 13.0435 ZNF407 0 genome.wustl.edu 37 18 72347596 72347596 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 72347596 72347596 T C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.4621 p.Y1541H 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 119 0 0 69 22 24.1758 TSHZ1 0 genome.wustl.edu 37 18 72999834 72999834 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 72999834 72999834 G T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.2472 p.V824 0.031 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 125 0 0 74 21 22.1053 ZNF516 0 genome.wustl.edu 37 18 74091364 74091364 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 74091364 74091364 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known silent c.2706 p.Q902 0.169 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 54 0 0 52 9 14.7541 YES1 0 genome.wustl.edu 37 18 745763 745763 + Nonsense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 745763 745763 A T SNP YES1 ENST00000314574 human ensembl 74_37 -1 known nonsense c.669 p.Y223* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 323 0 0 226 55 19.573 ATP9B 0 genome.wustl.edu 37 18 77133944 77133944 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 77133944 77133944 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.3117 p.F1039 0.978 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 134 0 0 73 20 21.5054 CTDP1 0 genome.wustl.edu 37 18 77456018 77456018 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 77456018 77456018 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.440 p.T147M 1.000 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 76 0 0 32 15 31.9149 SOGA2 0 genome.wustl.edu 37 18 8784591 8784591 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 8784591 8784591 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1481 p.G494D 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 104 0 0 60 10 14.2857 RDH8 0 genome.wustl.edu 37 19 10132286 10132286 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10132286 10132286 C T SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.857 p.T286M 0.787 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 75 0 0 51 7 12.069 DNMT1 0 genome.wustl.edu 37 19 10252877 10252877 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10252877 10252877 A G SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.3136 p.S1046P 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 89 0 0 60 10 14.2857 DNMT1 0 genome.wustl.edu 37 19 10284549 10284549 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10284549 10284549 T C SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.681 p.E227 0.741 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 235 0 0 120 35 22.5806 ICAM1 0 genome.wustl.edu 37 19 10394791 10394791 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10394791 10394791 C T SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known silent c.720 p.D240 0.000 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 86 0 0 78 21 21.2121 TYK2 0 genome.wustl.edu 37 19 10475609 10475609 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10475609 10475609 T C SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.1127 p.Y376C 0.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 104 0 0 87 18 17.1429 KEAP1 0 genome.wustl.edu 37 19 10599954 10599954 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10599954 10599954 G A SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.1622 p.T541I 0.991 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 54 0 0 60 9 13.0435 KEAP1 0 genome.wustl.edu 37 19 10602716 10602716 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10602716 10602716 A G SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.862 p.C288R 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 76 0 0 61 14 18.6667 KRI1 0 genome.wustl.edu 37 19 10670352 10670352 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 10670352 10670352 G A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known silent c.978 p.S326 0.115 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 100 0 0 65 12 15.5844 SMARCA4 0 genome.wustl.edu 37 19 11134301 11134301 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 11134301 11134301 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.2967 p.P989 0.047 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 20 0 0 15 5 25 ZNF844 0 genome.wustl.edu 37 19 12186294 12186294 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12186294 12186294 G T SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.359 p.R120M 0.019 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 48 0 0 32 8 20 ZNF20 0 genome.wustl.edu 37 19 12243602 12243602 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12243602 12243602 G A SNP ZNF20 ENST00000334213 human ensembl 74_37 -1 known nonsense c.1399 p.R467* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF20 HGNC ENSG00000132010 337 0 0 201 58 22.3938 C19orf26 0 genome.wustl.edu 37 19 1234739 1234739 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 1234739 1234739 T C SNP C19orf26 ENST00000382477 human ensembl 74_37 -1 known missense c.518 p.Y173C 1.000 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 23 0 0 10 4 28.5714 ZNF799 0 genome.wustl.edu 37 19 12501728 12501728 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12501728 12501728 C T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.1484 p.R495K 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 265 0 0 154 12 7.22892 ZNF799 0 genome.wustl.edu 37 19 12501734 12501734 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12501734 12501734 T C SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.1478 p.Q493R 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 276 1 0.361011 158 13 7.60234 ZNF799 0 genome.wustl.edu 37 19 12502023 12502023 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12502023 12502023 T C SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.1189 p.I397V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 429 0 0 269 47 14.8734 ZNF443 0 genome.wustl.edu 37 19 12541436 12541436 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12541436 12541436 C T SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known missense c.1550 p.R517K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 268 0 0 229 24 9.48617 ZNF443 0 genome.wustl.edu 37 19 12541437 12541437 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12541437 12541437 T G SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known silent c.1549 p.R517 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 272 0 0 227 25 9.92063 ZNF443 0 genome.wustl.edu 37 19 12541723 12541723 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12541723 12541723 A G SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known silent c.1263 p.H421 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 390 0 0 318 20 5.91716 MAN2B1 0 genome.wustl.edu 37 19 12758258 12758258 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12758258 12758258 C A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.2819 p.R940M 0.807 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 145 0 0 116 28 19.4444 HOOK2 0 genome.wustl.edu 37 19 12882282 12882282 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 12882282 12882282 A G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.529 p.Y177H 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 34 0 0 14 6 30 RAD23A 0 genome.wustl.edu 37 19 13059009 13059009 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13059009 13059009 A G SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.253 p.T85A 0.936 tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 83 0 0 58 12 17.1429 DAND5 0 genome.wustl.edu 37 19 13084403 13084403 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13084403 13084403 A G SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known missense c.525 p.I175M 0.001 pfam_DAN,pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 93 0 0 95 6 5.94059 CACNA1A 0 genome.wustl.edu 37 19 13323264 13323264 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13323264 13323264 C A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.6123 p.K2041N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 24 0 0 16 3 15.7895 CACNA1A 0 genome.wustl.edu 37 19 13409915 13409915 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13409915 13409915 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.2532 p.T844 0.147 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 25 0 0 14 4 22.2222 MRI1 0 genome.wustl.edu 37 19 13879676 13879676 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13879676 13879676 G A SNP MRI1 ENST00000040663 human ensembl 74_37 +1 known missense c.763 p.D255N 1.000 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 52 0 0 32 10 23.8095 C19orf53 0 genome.wustl.edu 37 19 13885340 13885340 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13885340 13885340 A G SNP C19orf53 ENST00000588234 human ensembl 74_37 +1 known missense c.49 p.K17E 0.400 pfam_UPF0390 pfam_UPF0390 - no_errors C19orf53 HGNC ENSG00000104979 38 0 0 28 9 24.3243 ZSWIM4 0 genome.wustl.edu 37 19 13941371 13941371 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 13941371 13941371 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.2477 p.T826M 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 124 0 0 80 15 15.7895 IL27RA 0 genome.wustl.edu 37 19 14143218 14143218 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14143218 14143218 T C SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known missense c.121 p.C41R 0.984 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 229 1 0.434783 160 37 18.7817 IL27RA 0 genome.wustl.edu 37 19 14159811 14159811 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14159811 14159811 T C SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known missense c.1160 p.V387A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 148 1 0.671141 95 25 20.8333 ASF1B 0 genome.wustl.edu 37 19 14232432 14232432 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14232432 14232432 T C SNP ASF1B ENST00000263382 human ensembl 74_37 -1 known missense c.314 p.E105G 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1B HGNC ENSG00000105011 91 0 0 66 31 31.9588 LPHN1 0 genome.wustl.edu 37 19 14268255 14268255 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14268255 14268255 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.2568 p.N856 0.958 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 85 0 0 51 15 22.7273 CD97 0 genome.wustl.edu 37 19 14501875 14501875 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14501875 14501875 C T SNP CD97 ENST00000242786 human ensembl 74_37 +1 known silent c.330 p.S110 0.022 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 156 0 0 108 21 16.2791 PKN1 0 genome.wustl.edu 37 19 14554341 14554341 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14554341 14554341 G A SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.400 p.V134M 0.982 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 18 0 0 5 12 70.5882 PKN1 0 genome.wustl.edu 37 19 14580254 14580254 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14580254 14580254 T C SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.2096 p.F699S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 221 0 0 143 40 21.8579 DNAJB1 0 genome.wustl.edu 37 19 14629004 14629004 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14629004 14629004 T C SNP DNAJB1 ENST00000254322 human ensembl 74_37 -1 known missense c.158 p.D53G 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB1 HGNC ENSG00000132002 26 0 0 16 3 15.7895 OR7A10 0 genome.wustl.edu 37 19 14952342 14952342 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14952342 14952342 G A SNP OR7A10 ENST00000248058 human ensembl 74_37 -1 known silent c.348 p.T116 0.048 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A10 HGNC ENSG00000127515 118 0 0 86 23 21.1009 NOTCH3 0 genome.wustl.edu 37 19 15271701 15271701 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15271701 15271701 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.6738 p.T2246 1.000 pirsf_Notch,pfam_DUF3454_notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 36 0 0 28 5 15.1515 NOTCH3 0 genome.wustl.edu 37 19 15302962 15302962 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15302962 15302962 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.488 p.R163Q 1.000 pirsf_Notch,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 34 0 0 24 9 27.2727 BRD4 0 genome.wustl.edu 37 19 15376427 15376427 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15376427 15376427 A G SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.587 p.V196A 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 363 0 0 212 61 22.3443 AKAP8 0 genome.wustl.edu 37 19 15465764 15465764 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15465764 15465764 T C SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.2041 p.T681A 0.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 154 0 0 100 26 20.6349 AKAP8 0 genome.wustl.edu 37 19 15479061 15479061 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15479061 15479061 T C SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.1145 p.D382G 1.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 73 0 0 35 12 25.5319 CYP4F12 0 genome.wustl.edu 37 19 15791224 15791224 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15791224 15791224 C T SNP CYP4F12 ENST00000547332 human ensembl 74_37 +1 known missense c.310 p.R104W 0.000 NULL NULL - no_errors CYP4F12 HGNC ENSG00000186204 46 0 0 36 13 26.5306 OR10H2 0 genome.wustl.edu 37 19 15839069 15839069 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15839069 15839069 C T SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known silent c.216 p.L72 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 143 0 0 88 24 21.4286 MBD3 0 genome.wustl.edu 37 19 1584655 1584655 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 1584655 1584655 C T SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.292 p.A98T 0.837 superfamily_DNA-bd_dom pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 56 0 0 50 9 15.2542 AP1M1 0 genome.wustl.edu 37 19 16319907 16319907 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 16319907 16319907 C T SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known silent c.465 p.N155 0.878 pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 117 0 0 77 24 23.7624 MED26 0 genome.wustl.edu 37 19 16688193 16688193 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 16688193 16688193 G A SNP MED26 ENST00000263390 human ensembl 74_37 -1 known missense c.448 p.R150W 0.900 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 12 0 0 16 4 20 SIN3B 0 genome.wustl.edu 37 19 16942437 16942437 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 16942437 16942437 A G SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.360 p.I120M 0.010 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 192 0 0 125 30 19.3548 CPAMD8 0 genome.wustl.edu 37 19 17039982 17039982 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17039982 17039982 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3055 p.R1019C 0.998 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 61 0 0 53 8 13.1148 CPAMD8 0 genome.wustl.edu 37 19 17081839 17081839 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17081839 17081839 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.2216 p.T739M 0.998 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 116 0 0 63 17 21.25 MYO9B 0 genome.wustl.edu 37 19 17312954 17312954 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17312954 17312954 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.4678 p.V1560M 0.997 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 34 0 0 27 7 20.5882 ANKLE1 0 genome.wustl.edu 37 19 17394238 17394238 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17394238 17394238 T C SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.665 p.V222A 0.690 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 140 0 0 121 25 17.1233 ANKLE1 0 genome.wustl.edu 37 19 17397362 17397362 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17397362 17397362 G A SNP ANKLE1 ENST00000598347 human ensembl 74_37 +1 putative silent c.1632 p.E544 0.237 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 9 0 0 11 5 31.25 FAM129C 0 genome.wustl.edu 37 19 17653018 17653018 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17653018 17653018 G A SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.1337 p.R446Q 0.000 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 274 0 0 174 44 20.1835 COLGALT1 0 genome.wustl.edu 37 19 17679457 17679457 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17679457 17679457 C A SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.764 p.P255H 0.996 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 123 0 0 90 17 15.8879 UNC13A 0 genome.wustl.edu 37 19 17750650 17750650 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17750650 17750650 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3119 p.R1040Q 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 98 0 0 79 14 15.0538 FCHO1 0 genome.wustl.edu 37 19 17885203 17885203 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17885203 17885203 C T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.836 p.A279V 0.984 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 99 0 0 71 19 21.1111 RPL18A 0 genome.wustl.edu 37 19 17973010 17973010 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 17973010 17973010 C A SNP RPL18A ENST00000222247 human ensembl 74_37 +1 known silent c.306 p.T102 0.014 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 155 1 0.641026 87 15 14.7059 ATP8B3 0 genome.wustl.edu 37 19 1802528 1802528 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 1802528 1802528 T C SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.1021 p.I341V 0.016 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 53 0 0 53 12 18.4615 MAST3 0 genome.wustl.edu 37 19 18252739 18252739 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18252739 18252739 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.2166 p.F722 0.085 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 12 0 0 11 5 31.25 PIK3R2 0 genome.wustl.edu 37 19 18274130 18274130 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18274130 18274130 C T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1348 p.H450Y 1.000 NULL pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 90 0 0 63 20 24.0964 PIK3R2 0 genome.wustl.edu 37 19 18279691 18279691 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18279691 18279691 A G SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1964 p.Y655C 0.992 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 23 0 0 22 6 21.4286 IFI30 0 genome.wustl.edu 37 19 18288041 18288041 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18288041 18288041 C T SNP IFI30 ENST00000407280 human ensembl 74_37 +1 known missense c.575 p.A192V 0.989 NULL pfam_Interferon-induced_GILT - no_errors IFI30 HGNC ENSG00000216490 8 0 0 4 3 42.8571 ELL 0 genome.wustl.edu 37 19 18557206 18557206 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18557206 18557206 C T SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.1617 p.L539 1.000 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 22 0 0 10 4 28.5714 FKBP8 0 genome.wustl.edu 37 19 18648475 18648475 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18648475 18648475 C T SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known missense c.965 p.R322H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 48 0 0 38 5 11.6279 CRTC1 0 genome.wustl.edu 37 19 18886579 18886579 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18886579 18886579 G A SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known silent c.1689 p.S563 0.627 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 41 0 0 30 9 23.0769 COMP 0 genome.wustl.edu 37 19 18893913 18893913 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18893913 18893913 G A SNP COMP ENST00000222271 human ensembl 74_37 -1 known silent c.2178 p.C726 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 52 0 0 43 11 20.3704 UPF1 0 genome.wustl.edu 37 19 18972941 18972941 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 18972941 18972941 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.2613 p.N871 0.813 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 132 0 0 97 25 20.4918 MEF2B 0 genome.wustl.edu 37 19 19260114 19260114 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 19260114 19260114 G A SNP MEF2B ENST00000162023 human ensembl 74_37 -1 known missense c.179 p.T60M 0.998 superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 76 0 0 54 16 22.8571 RFXANK 0 genome.wustl.edu 37 19 19308408 19308408 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 19308408 19308408 C T SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.416 p.T139I 0.465 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 55 0 0 33 12 26.6667 GATAD2A 0 genome.wustl.edu 37 19 19611975 19611975 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 19611975 19611975 G A SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.1250 p.C417Y 1.000 pfam_Znf_GATA,pfscan_Znf_GATA pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 85 0 0 56 14 20 YJEFN3 0 genome.wustl.edu 37 19 19640291 19640291 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 19640291 19640291 C T SNP YJEFN3 ENST00000514277 human ensembl 74_37 +1 known nonsense c.178 p.Q60* 0.000 NULL pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 46 0 0 42 9 17.6471 ZNF101 0 genome.wustl.edu 37 19 19788767 19788767 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 19788767 19788767 C T SNP ZNF101 ENST00000318110 human ensembl 74_37 +1 known missense c.98 p.T33M 0.429 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ENSG00000181896 194 0 0 118 34 22.3684 ZNF682 0 genome.wustl.edu 37 19 20117187 20117187 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 20117187 20117187 T C SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known missense c.1124 p.D375G 0.670 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 173 0 0 89 19 17.5926 ZNF486 0 genome.wustl.edu 37 19 20308530 20308530 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 20308530 20308530 T C SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known silent c.1011 p.L337 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 107 0 0 72 20 21.7391 AP3D1 0 genome.wustl.edu 37 19 2111698 2111698 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 2111698 2111698 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.2917 p.P973S 0.002 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 12 0 0 7 4 36.3636 ZNF430 0 genome.wustl.edu 37 19 21240516 21240516 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21240516 21240516 C T SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known missense c.1402 p.R468W 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF430 HGNC ENSG00000118620 149 0 0 75 14 15.7303 ZNF714 0 genome.wustl.edu 37 19 21299731 21299731 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21299731 21299731 A G SNP ZNF714 ENST00000596143 human ensembl 74_37 +1 known silent c.261 p.K87 0.014 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 97 0 0 65 12 15.5844 AP3D1 0 genome.wustl.edu 37 19 2132554 2132554 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 2132554 2132554 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.378 p.Y126 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 159 0 0 97 38 28.1481 ZNF708 0 genome.wustl.edu 37 19 21477133 21477133 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21477133 21477133 G A SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known missense c.635 p.T212M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF708 HGNC ENSG00000182141 156 0 0 75 19 20.2128 ZNF493 0 genome.wustl.edu 37 19 21606088 21606088 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21606088 21606088 T G SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known silent c.243 p.S81 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 225 0 0 147 28 16 ZNF493 0 genome.wustl.edu 37 19 21606418 21606418 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21606418 21606418 A G SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known silent c.573 p.K191 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 161 0 0 113 24 17.5182 ZNF43 0 genome.wustl.edu 37 19 21991830 21991830 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21991830 21991830 T C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1009 p.T337A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 154 1 0.645161 107 8 6.95652 ZNF208 0 genome.wustl.edu 37 19 22156465 22156465 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 22156465 22156465 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.1371 p.E457 0.353 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 200 0 0 127 32 20.1258 ZNF257 0 genome.wustl.edu 37 19 22270970 22270970 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 22270970 22270970 A G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.418 p.T140A 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 96 0 0 74 15 16.8539 ZNF257 0 genome.wustl.edu 37 19 22271493 22271493 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 22271493 22271493 A G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.941 p.K314R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 116 0 0 62 16 20.5128 ZNF676 0 genome.wustl.edu 37 19 22363694 22363694 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 22363694 22363694 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.825 p.H275 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 255 0 0 152 33 17.8378 LOC440518 0 genome.wustl.edu 37 19 22785425 22785425 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 22785425 22785425 G A SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 81 0 0 83 7 7.77778 ZNF91 0 genome.wustl.edu 37 19 23544026 23544026 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 23544026 23544026 A G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known silent c.1755 p.H585 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 191 0 0 130 20 13.3333 ZNF57 0 genome.wustl.edu 37 19 2917638 2917638 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 2917638 2917638 A G SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.1019 p.H340R 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 132 0 0 103 6 5.50459 ZNF57 0 genome.wustl.edu 37 19 2917975 2917975 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 2917975 2917975 C T SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known silent c.1356 p.H452 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 240 0 0 169 46 21.3953 C19orf12 0 genome.wustl.edu 37 19 30199167 30199167 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 30199167 30199167 C T SNP C19orf12 ENST00000392278 human ensembl 74_37 -1 known missense c.187 p.A63T 0.998 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 111 0 0 74 19 20.4301 MIER2 0 genome.wustl.edu 37 19 308808 308808 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 308808 308808 C T SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.1102 p.G368R 0.991 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 38 0 0 44 12 21.4286 ZNF536 0 genome.wustl.edu 37 19 30935840 30935840 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 30935840 30935840 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.1371 p.E457 0.950 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 71 0 0 53 14 20.8955 ZNF536 0 genome.wustl.edu 37 19 31039669 31039669 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 31039669 31039669 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3143 p.A1048V 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 144 0 0 82 19 18.8119 RHPN2 0 genome.wustl.edu 37 19 33471032 33471032 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 33471032 33471032 C T SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.1931 p.G644D 1.000 NULL pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 163 0 0 115 24 17.2662 MIER2 0 genome.wustl.edu 37 19 336173 336173 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 336173 336173 C T SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.10 p.A4T 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 47 0 0 29 9 23.6842 WDR88 0 genome.wustl.edu 37 19 33647305 33647305 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 33647305 33647305 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.854 p.G285D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 216 0 0 147 37 20.1087 LRP3 0 genome.wustl.edu 37 19 33693826 33693826 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 33693826 33693826 A G SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.194 p.N65S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 22 0 0 14 3 17.6471 SLC7A10 0 genome.wustl.edu 37 19 33700230 33700230 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 33700230 33700230 A G SNP SLC7A10 ENST00000253188 human ensembl 74_37 -1 known silent c.1425 p.C475 1.000 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 94 0 0 69 10 12.6582 CHST8 0 genome.wustl.edu 37 19 34263028 34263028 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 34263028 34263028 G A SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known missense c.335 p.R112H 0.984 NULL pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 21 0 0 22 4 15.3846 NFIC 0 genome.wustl.edu 37 19 3452546 3452546 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 3452546 3452546 C T SNP NFIC ENST00000443272 human ensembl 74_37 +1 known missense c.1151 p.T384M 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 315 0 0 208 58 21.8045 KIAA0355 0 genome.wustl.edu 37 19 34818956 34818956 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 34818956 34818956 T C SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.1004 p.M335T 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 146 0 0 111 26 18.9781 MAG 0 genome.wustl.edu 37 19 35786812 35786812 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 35786812 35786812 T C SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.343 p.Y115H 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 272 0 0 151 48 24.1206 MAG 0 genome.wustl.edu 37 19 35800929 35800929 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 35800929 35800929 T C SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1384 p.Y462H 1.000 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 88 0 0 69 18 20.6897 CD22 0 genome.wustl.edu 37 19 35828763 35828763 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 35828763 35828763 C T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.824 p.T275M 0.000 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 84 0 0 58 17 22.6667 GAPDHS 0 genome.wustl.edu 37 19 36024441 36024441 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36024441 36024441 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known silent c.12 p.R4 0.651 NULL pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 50 0 0 40 8 16.6667 ATP4A 0 genome.wustl.edu 37 19 36047837 36047837 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36047837 36047837 T C SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1847 p.K616R 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 106 0 0 79 18 18.5567 ATP4A 0 genome.wustl.edu 37 19 36049992 36049992 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36049992 36049992 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.1158 p.S386 0.010 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 412 0 0 285 51 15.1786 ZBTB32 0 genome.wustl.edu 37 19 36207454 36207454 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36207454 36207454 A G SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known missense c.1264 p.T422A 1.000 smart_Znf_C2H2-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 114 0 0 77 17 18.0851 PSENEN 0 genome.wustl.edu 37 19 36236883 36236883 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36236883 36236883 T C SNP PSENEN ENST00000222266 human ensembl 74_37 +1 known missense c.52 p.Y18H 1.000 pfam_Gamma_Secretase_Asp_P_PEN2 pfam_Gamma_Secretase_Asp_P_PEN2 - no_errors PSENEN HGNC ENSG00000205155 111 0 0 77 19 19.7917 CACTIN 0 genome.wustl.edu 37 19 3623876 3623876 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 3623876 3623876 T C SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.248 p.K83R 1.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 19 0 0 17 4 19.0476 LIN37 0 genome.wustl.edu 37 19 36245365 36245365 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36245365 36245365 A G SNP LIN37 ENST00000301159 human ensembl 74_37 +1 known missense c.731 p.E244G 1.000 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 54 0 0 34 8 19.0476 NPHS1 0 genome.wustl.edu 37 19 36336323 36336323 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36336323 36336323 T C SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.1877 p.H626R 1.000 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 55 0 0 45 10 18.1818 KIRREL2 0 genome.wustl.edu 37 19 36352822 36352822 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36352822 36352822 T C SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.1406 p.L469P 0.997 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 14 0 0 10 3 23.0769 KIRREL2 0 genome.wustl.edu 37 19 36357201 36357201 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36357201 36357201 A G SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.1934 p.H645R 0.413 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 137 1 0.724638 94 22 18.9655 CLIP3 0 genome.wustl.edu 37 19 36517143 36517143 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36517143 36517143 A G SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.587 p.F196S 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 70 0 0 38 3 7.31707 WDR62 0 genome.wustl.edu 37 19 36595572 36595572 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36595572 36595572 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.4306 p.R1436C 0.718 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 59 0 0 44 10 18.5185 ZNF565 0 genome.wustl.edu 37 19 36673869 36673869 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36673869 36673869 T C SNP ZNF565 ENST00000304116 human ensembl 74_37 -1 known silent c.999 p.K333 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 112 0 0 75 19 20.2128 THEG 0 genome.wustl.edu 37 19 367122 367122 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 367122 367122 G T SNP THEG ENST00000342640 human ensembl 74_37 -1 known missense c.856 p.P286T 0.986 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 201 0 0 144 33 18.6441 ZFP14 0 genome.wustl.edu 37 19 36831647 36831647 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36831647 36831647 T C SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.1081 p.I361V 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP14 HGNC ENSG00000142065 267 0 0 143 36 20.1117 ZNF529 0 genome.wustl.edu 37 19 37038880 37038880 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 37038880 37038880 T C SNP ZNF529 ENST00000591340 human ensembl 74_37 -1 known missense c.580 p.T194A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF529 HGNC ENSG00000186020 106 1 0.934579 88 16 15.3846 ZNF345 0 genome.wustl.edu 37 19 37368485 37368485 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 37368485 37368485 T G SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.753 p.I251M 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 146 0 0 88 19 17.757 ZNF829 0 genome.wustl.edu 37 19 37382950 37382950 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 37382950 37382950 G A SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.986 p.A329V 0.732 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 156 0 0 93 20 17.6991 ZNF420 0 genome.wustl.edu 37 19 37619822 37619822 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 37619822 37619822 T C SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known silent c.1929 p.Y643 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF420 HGNC ENSG00000197050 163 0 0 118 18 13.2353 MATK 0 genome.wustl.edu 37 19 3779034 3779034 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 3779034 3779034 G A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.1156 p.R386W 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 38 0 0 19 9 32.1429 ZNF527 0 genome.wustl.edu 37 19 37879579 37879579 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 37879579 37879579 A G SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.628 p.K210E 0.009 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 230 0 0 153 51 25 SIPA1L3 0 genome.wustl.edu 37 19 38579367 38579367 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 38579367 38579367 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.1541 p.A514V 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 42 0 0 22 8 26.6667 RYR1 0 genome.wustl.edu 37 19 38993522 38993522 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 38993522 38993522 A G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.7838 p.Y2613C 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 43 0 0 50 6 10.7143 SIRT2 0 genome.wustl.edu 37 19 39380364 39380364 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 39380364 39380364 C T SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known missense c.397 p.A133T 1.000 pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 111 0 0 73 20 21.5054 SARS2 0 genome.wustl.edu 37 19 39412061 39412061 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 39412061 39412061 C T SNP SARS2 ENST00000600042 human ensembl 74_37 -1 known missense c.566 p.R189Q 0.892 pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 42 0 0 38 8 17.3913 PAPL 0 genome.wustl.edu 37 19 39589225 39589225 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 39589225 39589225 C T SNP PAPL ENST00000331256 human ensembl 74_37 +1 known silent c.249 p.D83 0.972 superfamily_Purple_acid_Pase-like_N pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 67 0 0 43 11 20.3704 IFNL2 0 genome.wustl.edu 37 19 39759494 39759494 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 39759494 39759494 C T SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known missense c.188 p.A63V 0.327 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 37 0 0 15 6 28.5714 PAF1 0 genome.wustl.edu 37 19 39879431 39879431 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 39879431 39879431 C T SNP PAF1 ENST00000221265 human ensembl 74_37 -1 known silent c.711 p.A237 0.028 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 111 0 0 84 14 14.2857 FCGBP 0 genome.wustl.edu 37 19 40363056 40363056 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 40363056 40363056 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.15014 p.A5005V 0.008 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 32 0 0 24 4 14.2857 MAP3K10 0 genome.wustl.edu 37 19 40698259 40698259 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 40698259 40698259 G T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known silent c.321 p.G107 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 34 0 0 18 3 14.2857 MAP3K10 0 genome.wustl.edu 37 19 40712065 40712065 + Splice_Site SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 40712065 40712065 G A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known splice_site c.1435+1 e5+1 1.000 - - - no_errors MAP3K10 HGNC ENSG00000130758 52 0 0 26 11 29.7297 MAP3K10 0 genome.wustl.edu 37 19 40721046 40721046 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 40721046 40721046 C T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known silent c.2712 p.F904 0.002 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 14 0 0 6 3 33.3333 SPTBN4 0 genome.wustl.edu 37 19 41003397 41003397 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41003397 41003397 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.670 p.P224S 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 77 0 0 59 11 15.7143 SPTBN4 0 genome.wustl.edu 37 19 41009954 41009954 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41009954 41009954 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1580 p.R527Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 86 0 0 52 16 23.5294 LTBP4 0 genome.wustl.edu 37 19 41125264 41125264 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41125264 41125264 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.3281 p.C1094Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 232 0 0 149 32 17.6796 C19orf54 0 genome.wustl.edu 37 19 41250058 41250058 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41250058 41250058 C A SNP C19orf54 ENST00000378313 human ensembl 74_37 -1 known missense c.561 p.Q187H 0.090 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 21 0 0 10 2 16.6667 CYP2A6 0 genome.wustl.edu 37 19 41354549 41354549 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41354549 41354549 A G SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.463 p.F155L 0.044 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 73 0 0 35 7 16.6667 CYP2A7 0 genome.wustl.edu 37 19 41386114 41386114 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41386114 41386114 T C SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known missense c.529 p.T177A 0.016 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 103 0 0 68 16 19.0476 CYP2B7P1 0 genome.wustl.edu 37 19 41450410 41450410 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41450410 41450410 A G SNP CYP2B7P1 ENST00000599198 human ensembl 74_37 +1 known rna NULL NULL 0.302 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 53 0 0 26 4 13.3333 AXL 0 genome.wustl.edu 37 19 41744382 41744382 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41744382 41744382 G T SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.1002 p.L334 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 81 0 0 68 15 18.0723 CEACAM7 0 genome.wustl.edu 37 19 42191122 42191122 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42191122 42191122 T C SNP CEACAM7 ENST00000006724 human ensembl 74_37 -1 known missense c.95 p.N32S 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CEACAM7 HGNC ENSG00000007306 234 0 0 180 17 8.62944 SHC2 0 genome.wustl.edu 37 19 422254 422254 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 422254 422254 G A SNP SHC2 ENST00000264554 human ensembl 74_37 -1 known silent c.1512 p.D504 0.994 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 18 0 0 13 4 23.5294 CEACAM3 0 genome.wustl.edu 37 19 42301579 42301579 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42301579 42301579 G A SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.123 p.M41I 0.010 pfam_Ig_V-set pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 233 0 0 170 42 19.8113 EBI3 0 genome.wustl.edu 37 19 4231313 4231313 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4231313 4231313 A G SNP EBI3 ENST00000221847 human ensembl 74_37 +1 known missense c.193 p.T65A 0.999 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EBI3 HGNC ENSG00000105246 44 0 0 22 9 29.0323 CD79A 0 genome.wustl.edu 37 19 42383168 42383168 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42383168 42383168 A G SNP CD79A ENST00000221972 human ensembl 74_37 +1 known missense c.188 p.N63S 0.186 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 110 0 0 74 16 17.7778 RABAC1 0 genome.wustl.edu 37 19 42463428 42463428 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42463428 42463428 T C SNP RABAC1 ENST00000222008 human ensembl 74_37 -1 known missense c.17 p.D6G 1.000 NULL pfam_Prenylated_rab_accept_PRA1 - no_errors RABAC1 HGNC ENSG00000105404 52 0 0 33 5 13.1579 ATP1A3 0 genome.wustl.edu 37 19 42474390 42474390 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42474390 42474390 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2489 p.R830Q 0.152 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 97 0 0 58 22 27.5 ATP1A3 0 genome.wustl.edu 37 19 42480695 42480695 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42480695 42480695 T C SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.1967 p.H656R 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 92 0 0 61 13 17.5676 GRIK5 0 genome.wustl.edu 37 19 42507556 42507556 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42507556 42507556 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known silent c.2442 p.G814 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 111 0 0 71 14 16.4706 ZNF574 0 genome.wustl.edu 37 19 42583295 42583295 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42583295 42583295 G A SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.807 p.V269 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 180 0 0 132 24 15.3846 ZNF526 0 genome.wustl.edu 37 19 42729973 42729973 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42729973 42729973 G A SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.1418 p.R473H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 118 0 0 82 22 21.1538 ERF 0 genome.wustl.edu 37 19 42753338 42753338 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42753338 42753338 T C SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.926 p.D309G 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 23 0 0 25 4 13.7931 CIC 0 genome.wustl.edu 37 19 42791321 42791321 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42791321 42791321 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known silent c.381 p.T127 0.679 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 42 0 0 25 11 30.5556 LIPE 0 genome.wustl.edu 37 19 42911584 42911584 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 42911584 42911584 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known missense c.1879 p.G627S 1.000 pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 34 0 0 20 6 23.0769 CEACAM1 0 genome.wustl.edu 37 19 43023277 43023277 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 43023277 43023277 T G SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.1069 p.I357L 0.011 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 231 0 0 138 47 25.4054 PSG1 0 genome.wustl.edu 37 19 43382306 43382306 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 43382306 43382306 G A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known silent c.189 p.T63 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 580 1 0.172117 362 65 15.2225 PSG2 0 genome.wustl.edu 37 19 43585325 43585325 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 43585325 43585325 G A SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known silent c.138 p.S46 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 400 0 0 253 79 23.7952 CHAF1A 0 genome.wustl.edu 37 19 4409350 4409350 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4409350 4409350 A C SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.554 p.E185A 0.010 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 129 0 0 79 26 24.7619 LYPD5 0 genome.wustl.edu 37 19 44301943 44301943 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 44301943 44301943 G A SNP LYPD5 ENST00000377950 human ensembl 74_37 -1 known missense c.556 p.R186W 0.942 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 56 0 0 36 6 14.2857 ZNF45 0 genome.wustl.edu 37 19 44418119 44418119 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 44418119 44418119 T C SNP ZNF45 ENST00000269973 human ensembl 74_37 -1 known missense c.1469 p.H490R 0.974 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF45 HGNC ENSG00000124459 106 0 0 72 22 23.4043 ZNF230 0 genome.wustl.edu 37 19 44514742 44514742 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 44514742 44514742 G A SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.551 p.R184H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF230 HGNC ENSG00000159882 308 0 0 214 48 18.3206 ZNF225 0 genome.wustl.edu 37 19 44635769 44635769 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 44635769 44635769 T C SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known silent c.1002 p.H334 0.569 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 315 0 0 207 57 21.5909 ZNF227 0 genome.wustl.edu 37 19 44740602 44740602 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 44740602 44740602 G A SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known silent c.2019 p.S673 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 127 0 0 90 18 16.6667 BCL3 0 genome.wustl.edu 37 19 45254502 45254502 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 45254502 45254502 A G SNP BCL3 ENST00000164227 human ensembl 74_37 +1 known missense c.275 p.Y92C 0.307 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 146 0 0 114 21 15.5556 BCAM 0 genome.wustl.edu 37 19 45315633 45315633 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 45315633 45315633 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.418 p.R140W 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 22 0 0 26 6 18.75 ERCC2 0 genome.wustl.edu 37 19 45867349 45867349 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 45867349 45867349 G A SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.844 p.R282W 1.000 pfam_DUF1227,superfamily_P-loop_NTPase,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 8 0 0 6 3 33.3333 CD3EAP 0 genome.wustl.edu 37 19 45911617 45911617 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 45911617 45911617 C T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known nonsense c.397 p.Q133* 0.998 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 134 0 0 93 17 15.4545 RTN2 0 genome.wustl.edu 37 19 45997462 45997462 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 45997462 45997462 G A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.776 p.T259M 0.938 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 304 0 0 205 57 21.7557 SYMPK 0 genome.wustl.edu 37 19 46357726 46357726 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 46357726 46357726 T C SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.28 p.T10A 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 52 0 0 42 8 16 DPP9 0 genome.wustl.edu 37 19 4684695 4684695 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4684695 4684695 C A SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.2158 p.G720W 1.000 pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 25 0 0 17 8 32 CCDC8 0 genome.wustl.edu 37 19 46914891 46914891 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 46914891 46914891 C T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.1177 p.A393T 0.037 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 254 0 0 156 37 19.171 ARHGAP35 0 genome.wustl.edu 37 19 47424757 47424757 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 47424757 47424757 T C SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.2825 p.V942A 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 168 0 0 133 27 16.875 FEM1A 0 genome.wustl.edu 37 19 4792619 4792619 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4792619 4792619 T G SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known silent c.753 p.P251 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 66 0 0 40 9 18.3673 PLIN3 0 genome.wustl.edu 37 19 4852237 4852237 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4852237 4852237 G A SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known missense c.425 p.T142M 0.009 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 36 0 0 28 6 17.6471 PLA2G4C 0 genome.wustl.edu 37 19 48601512 48601512 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 48601512 48601512 G A SNP PLA2G4C ENST00000599111 human ensembl 74_37 -1 known missense c.482 p.P161L 0.072 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4C HGNC ENSG00000105499 102 0 0 83 23 21.6981 LIG1 0 genome.wustl.edu 37 19 48631219 48631219 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 48631219 48631219 C T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.1880 p.R627Q 0.833 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 299 0 0 182 35 16.129 FAM83E 0 genome.wustl.edu 37 19 49113254 49113254 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49113254 49113254 C T SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.637 p.V213M 1.000 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 25 0 0 16 8 33.3333 UHRF1 0 genome.wustl.edu 37 19 4930731 4930731 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4930731 4930731 A G SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors UHRF1 HGNC ENSG00000034063 35 0 0 31 5 13.8889 TRPM4 0 genome.wustl.edu 37 19 49671550 49671550 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49671550 49671550 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.482 p.G161D 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 151 0 0 113 29 20.4225 TEAD2 0 genome.wustl.edu 37 19 49850573 49850573 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49850573 49850573 G A SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known silent c.783 p.P261 0.923 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 221 0 0 131 36 21.5569 DKKL1 0 genome.wustl.edu 37 19 49868877 49868877 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49868877 49868877 A G SNP DKKL1 ENST00000221498 human ensembl 74_37 +1 known missense c.295 p.T99A 0.502 NULL NULL - no_errors DKKL1 HGNC ENSG00000104901 101 0 0 77 14 15.3846 SLC17A7 0 genome.wustl.edu 37 19 49934038 49934038 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49934038 49934038 A G SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known missense c.1421 p.I474T 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 131 0 0 97 20 17.094 ALDH16A1 0 genome.wustl.edu 37 19 49973652 49973652 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49973652 49973652 C T SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known silent c.2337 p.A779 0.002 pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 56 0 0 34 14 29.1667 AP2A1 0 genome.wustl.edu 37 19 50285879 50285879 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50285879 50285879 A G SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.371 p.N124S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 31 0 0 14 3 17.6471 MED25 0 genome.wustl.edu 37 19 50333092 50333092 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50333092 50333092 G A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known missense c.575 p.R192Q 1.000 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 15 0 0 6 5 45.4545 SIGLEC16 0 genome.wustl.edu 37 19 50473221 50473221 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50473221 50473221 T C SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC ENSG00000161643 39 0 0 32 3 8.57143 MYH14 0 genome.wustl.edu 37 19 50764738 50764738 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50764738 50764738 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.2431 p.A811T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 47 0 0 26 7 21.2121 KCNC3 0 genome.wustl.edu 37 19 50826917 50826917 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50826917 50826917 G A SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known silent c.1293 p.F431 0.914 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 70 0 0 51 8 13.5593 NAPSA 0 genome.wustl.edu 37 19 50868804 50868804 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50868804 50868804 T C SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known silent c.75 p.T25 0.010 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 38 0 0 39 12 23.5294 POLD1 0 genome.wustl.edu 37 19 50905562 50905562 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50905562 50905562 C T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known silent c.690 p.G230 0.982 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 75 0 0 45 6 11.7647 POLD1 0 genome.wustl.edu 37 19 50921195 50921195 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50921195 50921195 G T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.3315 p.E1105D 0.970 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 26 0 0 5 4 44.4444 FAM71E1 0 genome.wustl.edu 37 19 50979589 50979589 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50979589 50979589 T C SNP FAM71E1 ENST00000600100 human ensembl 74_37 -1 known silent c.57 p.S19 0.000 NULL pfam_DUF3699 - no_errors FAM71E1 HGNC ENSG00000142530 55 0 0 40 10 20 LRRC4B 0 genome.wustl.edu 37 19 51021967 51021967 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 51021967 51021967 T C SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1003 p.T335A 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 36 0 0 27 15 35.7143 KDM4B 0 genome.wustl.edu 37 19 5110675 5110675 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 5110675 5110675 T C SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.961 p.F321L 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 56 0 0 44 3 6.38298 KDM4B 0 genome.wustl.edu 37 19 5110733 5110733 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 5110733 5110733 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.1019 p.T340M 0.265 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 38 0 0 27 5 15.625 IGLON5 0 genome.wustl.edu 37 19 51825371 51825371 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 51825371 51825371 T C SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known missense c.133 p.C45R 0.997 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 101 0 0 65 14 17.7215 SIGLEC8 0 genome.wustl.edu 37 19 51955734 51955734 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 51955734 51955734 C G SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known missense c.1399 p.D467H 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 217 0 0 145 31 17.6136 SIGLEC12 0 genome.wustl.edu 37 19 52002707 52002707 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52002707 52002707 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known nonsense c.1072 p.R358* 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 83 0 0 43 9 17.3077 PTPRS 0 genome.wustl.edu 37 19 5208286 5208286 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 5208286 5208286 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.5607 p.E1869 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 83 0 0 57 11 16.1765 ZNF175 0 genome.wustl.edu 37 19 52091376 52091376 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52091376 52091376 G A SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1792 p.G598S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF175 HGNC ENSG00000105497 294 0 0 203 75 26.9784 FPR2 0 genome.wustl.edu 37 19 52272320 52272320 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52272320 52272320 C T SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known missense c.409 p.R137C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 183 0 0 143 32 18.2857 ZNF614 0 genome.wustl.edu 37 19 52519395 52519395 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52519395 52519395 T C SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.1456 p.T486A 0.047 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 454 0 0 325 74 18.5464 ZNF841 0 genome.wustl.edu 37 19 52569204 52569204 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52569204 52569204 C T SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.1931 p.R644Q 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 324 0 0 187 44 19.0476 ZNF841 0 genome.wustl.edu 37 19 52569671 52569671 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52569671 52569671 A G SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known silent c.1464 p.N488 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 106 0 0 59 24 28.9157 ZNF480 0 genome.wustl.edu 37 19 52817449 52817449 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52817449 52817449 C T SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.116 p.A39V 0.908 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 312 0 0 227 48 17.4545 ZNF480 0 genome.wustl.edu 37 19 52825579 52825579 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52825579 52825579 T C SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.1076 p.V359A 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 196 0 0 115 30 20.6897 ZNF528 0 genome.wustl.edu 37 19 52918502 52918502 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52918502 52918502 A G SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.397 p.K133E 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 102 0 0 73 21 22.3404 ZNF701 0 genome.wustl.edu 37 19 53059174 53059174 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53059174 53059174 G A SNP ZNF701 ENST00000478039 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF701 HGNC ENSG00000167562 20 0 0 12 6 33.3333 ZNF611 0 genome.wustl.edu 37 19 53208359 53208359 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53208359 53208359 T C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1949 p.Y650C 0.014 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 420 0 0 275 69 20.0581 ZNF702P 0 genome.wustl.edu 37 19 53472464 53472464 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53472464 53472464 T C SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.567 - - - no_errors ZNF702P HGNC ENSG00000242779 17 0 0 7 2 22.2222 ZNF160 0 genome.wustl.edu 37 19 53572886 53572886 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53572886 53572886 T C SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known missense c.901 p.T301A 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 344 0 0 243 51 17.3469 ZNF415 0 genome.wustl.edu 37 19 53612426 53612426 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53612426 53612426 C T SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.1016 p.R339Q 0.000 smart_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 135 0 0 125 40 24.2424 ZNF347 0 genome.wustl.edu 37 19 53643691 53643691 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53643691 53643691 T C SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.2393 p.K798R 0.172 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 443 0 0 315 78 19.8473 ZNF677 0 genome.wustl.edu 37 19 53741578 53741578 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53741578 53741578 T C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known silent c.402 p.Q134 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 227 0 0 176 42 19.2661 VN1R2 0 genome.wustl.edu 37 19 53762245 53762245 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53762245 53762245 C A SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.617 p.P206Q 0.000 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 110 0 0 80 20 20 VN1R4 0 genome.wustl.edu 37 19 53770041 53770041 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53770041 53770041 T C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.878 p.Y293C 0.000 NULL pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 140 0 0 104 30 22.3881 ZNF761 0 genome.wustl.edu 37 19 53958506 53958506 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53958506 53958506 A G SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.909 - - - no_errors ZNF761 HGNC ENSG00000160336 333 0 0 225 60 21.0526 MIR498 0 genome.wustl.edu 37 19 54177496 54177496 + RNA SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 54177496 54177496 G T SNP MIR498 ENST00000385134 human ensembl 74_37 +1 known rna NULL NULL 0.123 - - - no_errors MIR498 HGNC ENSG00000207869 191 0 0 133 50 27.3224 MIR516B1 0 genome.wustl.edu 37 19 54240176 54240176 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 54240176 54240176 T C SNP MIR516B1 ENST00000385211 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR516B1 HGNC ENSG00000207946 125 0 0 92 25 21.3675 MYADM 0 genome.wustl.edu 37 19 54377168 54377168 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 54377168 54377168 T C SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.385 p.S129P 0.000 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 148 1 0.671141 96 24 20 LILRB5 0 genome.wustl.edu 37 19 54754762 54754762 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 54754762 54754762 T C SNP LILRB5 ENST00000449561 human ensembl 74_37 -1 known missense c.1664 p.Y555C 0.317 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 108 0 0 72 19 20.8791 LENG8 0 genome.wustl.edu 37 19 54963842 54963842 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 54963842 54963842 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.226 p.A76T 0.997 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 127 0 0 89 23 20.5357 NLRP7 0 genome.wustl.edu 37 19 55451007 55451007 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55451007 55451007 A G SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1264 p.F422L 0.991 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 30 0 0 13 5 27.7778 NLRP2 0 genome.wustl.edu 37 19 55489171 55489171 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55489171 55489171 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.377 p.R126H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 105 0 0 68 21 23.5955 EPS8L1 0 genome.wustl.edu 37 19 55599032 55599032 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55599032 55599032 A G SNP EPS8L1 ENST00000587901 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors EPS8L1 HGNC ENSG00000131037 20 0 0 14 3 17.6471 PTPRH 0 genome.wustl.edu 37 19 55697344 55697344 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55697344 55697344 A G SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known silent c.2787 p.C929 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 187 0 0 123 24 16.3265 PPP6R1 0 genome.wustl.edu 37 19 55753611 55753611 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55753611 55753611 G A SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known silent c.768 p.F256 0.672 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 188 0 0 138 33 19.2982 HSPBP1 0 genome.wustl.edu 37 19 55776758 55776758 + Splice_Site SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55776758 55776758 C A SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known splice_site c.894-1 e6-1 1.000 - - - no_errors HSPBP1 HGNC ENSG00000133265 108 0 0 77 26 25.2427 UBE2S 0 genome.wustl.edu 37 19 55918226 55918226 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 55918226 55918226 G A SNP UBE2S ENST00000264552 human ensembl 74_37 -1 known silent c.108 p.N36 0.996 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2S HGNC ENSG00000108106 134 0 0 84 26 23.6364 SAFB2 0 genome.wustl.edu 37 19 5594161 5594161 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 5594161 5594161 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known missense c.1948 p.R650C 0.999 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 26 0 0 25 2 7.40741 NLRP13 0 genome.wustl.edu 37 19 56413559 56413559 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 56413559 56413559 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known silent c.2631 p.C877 0.019 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 54 0 0 24 10 29.4118 ZNF471 0 genome.wustl.edu 37 19 57036268 57036268 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57036268 57036268 A T SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.832 p.I278F 0.038 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 310 0 0 225 54 19.3548 ZFP28 0 genome.wustl.edu 37 19 57065823 57065823 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57065823 57065823 G A SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.1669 p.G557R 0.993 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 137 1 0.724638 105 25 19.2308 PEG3 0 genome.wustl.edu 37 19 57327020 57327020 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57327020 57327020 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2790 p.R930 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 316 1 0.315457 242 48 16.5517 PEG3 0 genome.wustl.edu 37 19 57327050 57327050 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57327050 57327050 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2760 p.G920 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 277 0 0 213 43 16.7969 PEG3 0 genome.wustl.edu 37 19 57334145 57334145 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57334145 57334145 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.541 p.S181P 0.004 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 55 0 0 39 9 18.75 USP29 0 genome.wustl.edu 37 19 57641676 57641676 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57641676 57641676 A G SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1633 p.T545A 0.871 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 474 1 0.210526 331 64 16.2025 ZNF264 0 genome.wustl.edu 37 19 57722986 57722986 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57722986 57722986 A G SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known missense c.521 p.E174G 0.293 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF264 HGNC ENSG00000083844 97 0 0 53 14 20.8955 AURKC 0 genome.wustl.edu 37 19 57743127 57743127 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57743127 57743127 A G SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.76 p.T26A 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKC HGNC ENSG00000105146 101 0 0 54 11 16.9231 AURKC 0 genome.wustl.edu 37 19 57746724 57746724 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57746724 57746724 A T SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.869 p.H290L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKC HGNC ENSG00000105146 128 0 0 89 13 12.7451 ZNF543 0 genome.wustl.edu 37 19 57839139 57839139 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57839139 57839139 A G SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.309 p.L103 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 137 0 0 93 29 23.7705 ZNF543 0 genome.wustl.edu 37 19 57839764 57839764 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57839764 57839764 G A SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known missense c.934 p.V312M 0.086 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 100 0 0 68 23 25.2747 ZNF548 0 genome.wustl.edu 37 19 57910856 57910856 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57910856 57910856 T A SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.1237 p.S413T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 124 0 0 102 7 6.42202 ZNF17 0 genome.wustl.edu 37 19 57931169 57931169 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57931169 57931169 C T SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known silent c.309 p.D103 0.000 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 221 0 0 136 26 16.0494 ZNF749 0 genome.wustl.edu 37 19 57956392 57956392 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57956392 57956392 A G SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.1876 p.T626A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 152 0 0 98 19 16.2393 ZNF416 0 genome.wustl.edu 37 19 58083888 58083888 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58083888 58083888 C T SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.1384 p.A462T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ENSG00000083817 269 0 0 174 42 19.4444 ZNF211 0 genome.wustl.edu 37 19 58152513 58152513 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58152513 58152513 T C SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.698 p.V233A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF211 HGNC ENSG00000121417 148 0 0 110 33 23.0769 ZNF671 0 genome.wustl.edu 37 19 58232449 58232449 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58232449 58232449 G A SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known silent c.1005 p.H335 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF671 HGNC ENSG00000083814 192 0 0 107 28 20.7407 ZNF587B 0 genome.wustl.edu 37 19 58353255 58353255 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58353255 58353255 A G SNP ZNF587B ENST00000594901 human ensembl 74_37 +1 novel missense c.1213 p.T405A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587B HGNC ENSG00000269343 57 0 0 33 6 15.3846 ZNF587 0 genome.wustl.edu 37 19 58369951 58369951 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58369951 58369951 G A SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known nonsense c.171 p.W57* 0.441 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 157 0 0 107 20 15.748 ZNF418 0 genome.wustl.edu 37 19 58439288 58439288 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58439288 58439288 A G SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known silent c.261 p.C87 0.001 smart_Znf_C2H2-like,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 141 0 0 102 31 23.3083 ZNF256 0 genome.wustl.edu 37 19 58453789 58453789 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58453789 58453789 A G SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known silent c.387 p.F129 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ENSG00000152454 303 0 0 205 49 19.2913 ZNF135 0 genome.wustl.edu 37 19 58579383 58579383 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58579383 58579383 A G SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.1603 p.K535E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 116 0 0 54 15 21.7391 ZNF544 0 genome.wustl.edu 37 19 58773028 58773028 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58773028 58773028 G A SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known silent c.1056 p.K352 0.061 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 134 0 0 87 22 20.1835 A1BG 0 genome.wustl.edu 37 19 58862876 58862876 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58862876 58862876 A G SNP A1BG ENST00000263100 human ensembl 74_37 -1 known missense c.791 p.F264S 0.018 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 89 0 0 66 17 20.4819 ZNF446 0 genome.wustl.edu 37 19 58988663 58988663 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58988663 58988663 C A SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known silent c.78 p.R26 0.127 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 211 0 0 242 53 17.9661 ZNF446 0 genome.wustl.edu 37 19 58989496 58989496 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58989496 58989496 A G SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.575 p.N192S 0.021 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 66 0 0 50 21 29.5775 SLC27A5 0 genome.wustl.edu 37 19 59012015 59012015 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 59012015 59012015 T A SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known missense c.1241 p.D414V 0.308 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 129 0 0 99 12 10.8108 TRIM28 0 genome.wustl.edu 37 19 59059476 59059476 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 59059476 59059476 C T SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.1030 p.H344Y 1.000 smart_Bbox_C pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 281 0 0 222 28 11.2 MZF1 0 genome.wustl.edu 37 19 59073626 59073626 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 59073626 59073626 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.2018 p.R673H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 15 0 0 12 4 25 POLRMT 0 genome.wustl.edu 37 19 617784 617784 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 617784 617784 A G SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.3488 p.M1163T 1.000 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 59 0 0 32 6 15.7895 POLRMT 0 genome.wustl.edu 37 19 621761 621761 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 621761 621761 A G SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.1937 p.V646A 1.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 30 0 0 36 4 10 MLLT1 0 genome.wustl.edu 37 19 6230666 6230666 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 6230666 6230666 G A SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known missense c.335 p.P112L 1.000 pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 268 0 0 178 47 20.8889 MLLT1 0 genome.wustl.edu 37 19 6230719 6230719 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 6230719 6230719 C T SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known silent c.282 p.E94 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 233 0 0 151 34 18.3784 ACER1 0 genome.wustl.edu 37 19 6309743 6309743 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 6309743 6309743 C T SNP ACER1 ENST00000301452 human ensembl 74_37 -1 known silent c.453 p.L151 0.534 pfam_Ceramidase pfam_Ceramidase - no_errors ACER1 HGNC ENSG00000167769 140 1 0.70922 99 29 22.6562 CRB3 0 genome.wustl.edu 37 19 6467020 6467020 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 6467020 6467020 G A SNP CRB3 ENST00000356762 human ensembl 74_37 +1 known missense c.359 p.C120Y 1.000 NULL NULL - no_errors CRB3 HGNC ENSG00000130545 169 0 0 117 30 20.4082 C3 0 genome.wustl.edu 37 19 6710732 6710732 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 6710732 6710732 T C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1604 p.Y535C 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 84 0 0 73 8 9.87654 TRIP10 0 genome.wustl.edu 37 19 6743530 6743530 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 6743530 6743530 G A SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.434 p.C145Y 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 102 0 0 60 10 14.2857 ZNF557 0 genome.wustl.edu 37 19 7083669 7083669 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7083669 7083669 C A SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known missense c.1207 p.P403T 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF557 HGNC ENSG00000130544 200 0 0 151 34 18.3784 INSR 0 genome.wustl.edu 37 19 7150506 7150506 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7150506 7150506 A G SNP INSR ENST00000302850 human ensembl 74_37 -1 known splice_site c.2267+2 e11+2 0.989 - - - no_errors INSR HGNC ENSG00000171105 37 0 0 39 7 15.2174 ZNF358 0 genome.wustl.edu 37 19 7585023 7585023 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7585023 7585023 G A SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.895 p.A299T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 36 0 0 28 9 24.3243 PNPLA6 0 genome.wustl.edu 37 19 7615447 7615447 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7615447 7615447 G A SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.2018 p.R673Q 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 34 0 0 22 6 21.4286 PNPLA6 0 genome.wustl.edu 37 19 7622065 7622065 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7622065 7622065 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.3322 p.R1108W 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 60 0 0 53 10 15.873 CLEC4G 0 genome.wustl.edu 37 19 7794978 7794978 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7794978 7794978 G A SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.554 p.T185M 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 15 0 0 15 3 16.6667 CLEC4M 0 genome.wustl.edu 37 19 7831545 7831545 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7831545 7831545 G A SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.788 p.R263H 0.575 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 116 0 0 67 19 22.093 ELAVL1 0 genome.wustl.edu 37 19 8056606 8056606 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 8056606 8056606 T C SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.175 p.T59A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 259 0 0 159 38 19.2893 PTBP1 0 genome.wustl.edu 37 19 808741 808741 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 808741 808741 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.1442 p.T481M 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 26 0 0 17 3 15 FBN3 0 genome.wustl.edu 37 19 8138042 8138042 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 8138042 8138042 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.7842 p.C2614 0.894 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 112 0 0 65 26 28.5714 RAB11B 0 genome.wustl.edu 37 19 8464891 8464891 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 8464891 8464891 C T SNP RAB11B ENST00000328024 human ensembl 74_37 +1 known missense c.185 p.A62V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 80 0 0 51 8 13.5593 HNRNPM 0 genome.wustl.edu 37 19 8550915 8550915 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 8550915 8550915 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1603 p.A535T 0.838 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 76 0 0 72 17 19.1011 PRAM1 0 genome.wustl.edu 37 19 8563898 8563898 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 8563898 8563898 T C SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.794 p.D265G 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 68 0 0 43 11 20.3704 MED16 0 genome.wustl.edu 37 19 881601 881601 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 881601 881601 C T SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1099 p.D367N 0.999 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 118 0 0 80 25 23.8095 MED16 0 genome.wustl.edu 37 19 881679 881679 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 881679 881679 T G SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1021 p.I341L 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 132 1 0.75188 110 28 20.2899 MUC16 0 genome.wustl.edu 37 19 9049048 9049048 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9049048 9049048 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.32583 p.S10861 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 211 0 0 133 37 21.7647 MUC16 0 genome.wustl.edu 37 19 9069916 9069916 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9069916 9069916 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.17530 p.I5844V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 242 0 0 189 49 20.5882 MUC16 0 genome.wustl.edu 37 19 9074359 9074359 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9074359 9074359 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.13087 p.T4363A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 101 0 0 79 18 18.5567 MUC16 0 genome.wustl.edu 37 19 9074482 9074482 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9074482 9074482 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.12964 p.T4322A 0.009 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 68 0 0 53 16 23.1884 MUC16 0 genome.wustl.edu 37 19 9091107 9091107 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9091107 9091107 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.708 p.S236 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 128 0 0 95 21 18.1034 ZNF426 0 genome.wustl.edu 37 19 9639179 9639179 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9639179 9639179 C T SNP ZNF426 ENST00000253115 human ensembl 74_37 -1 known silent c.1542 p.T514 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF426 HGNC ENSG00000130818 221 0 0 160 10 5.88235 ZNF812 0 genome.wustl.edu 37 19 9801167 9801167 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9801167 9801167 A G SNP ZNF812 ENST00000457674 human ensembl 74_37 -1 novel missense c.1012 p.C338R 0.980 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ENSG00000224689 176 0 0 133 31 18.9024 ZNF812 0 genome.wustl.edu 37 19 9801804 9801804 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9801804 9801804 A G SNP ZNF812 ENST00000457674 human ensembl 74_37 -1 novel silent c.375 p.S125 0.005 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ENSG00000224689 121 0 0 100 18 15.2542 AFF3 0 genome.wustl.edu 37 2 100175428 100175428 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 100175428 100175428 T C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.3269 p.Y1090C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 132 1 0.75188 55 27 32.9268 MAP4K4 0 genome.wustl.edu 37 2 102314966 102314966 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 102314966 102314966 T C SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.89 p.V30A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 498 0 0 330 84 20.2899 RRM2 0 genome.wustl.edu 37 2 10269216 10269216 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 10269216 10269216 A G SNP RRM2 ENST00000360566 human ensembl 74_37 +1 known missense c.1132 p.T378A 0.369 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2 HGNC ENSG00000171848 321 2 0.619195 255 63 19.8113 SLC9A4 0 genome.wustl.edu 37 2 103119969 103119969 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 103119969 103119969 C T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.783 p.V261 0.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 113 1 0.877193 81 23 22.1154 SLC9A4 0 genome.wustl.edu 37 2 103121775 103121775 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 103121775 103121775 A G SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1043 p.Y348C 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 77 0 0 71 19 21.1111 NOL10 0 genome.wustl.edu 37 2 10822127 10822127 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 10822127 10822127 A G SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.181 p.S61P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 30 0 0 27 4 12.9032 RGPD4 0 genome.wustl.edu 37 2 108455368 108455368 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 108455368 108455368 T C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.353 p.V118A 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 496 2 0.401606 320 57 15.1194 RGPD4 0 genome.wustl.edu 37 2 108488518 108488518 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 108488518 108488518 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4058 p.N1353S 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 746 0 0 478 117 19.6639 SULT1C4 0 genome.wustl.edu 37 2 108998284 108998284 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 108998284 108998284 G A SNP SULT1C4 ENST00000272452 human ensembl 74_37 +1 known missense c.236 p.R79Q 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C4 HGNC ENSG00000198075 113 0 0 102 20 16.3934 GCC2 0 genome.wustl.edu 37 2 109102288 109102288 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 109102288 109102288 A G SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.3716 p.E1239G 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 78 0 0 54 16 22.8571 CCDC138 0 genome.wustl.edu 37 2 109490018 109490018 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 109490018 109490018 T C SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.1805 p.I602T 1.000 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 129 0 0 79 24 23.301 SH3RF3 0 genome.wustl.edu 37 2 110259166 110259166 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 110259166 110259166 G A SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known missense c.2567 p.R856H 0.989 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 15 0 0 15 4 21.0526 KCNF1 0 genome.wustl.edu 37 2 11053142 11053142 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 11053142 11053142 T C SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.590 p.V197A 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 37 0 0 30 6 16.6667 TMEM87B 0 genome.wustl.edu 37 2 112817574 112817574 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 112817574 112817574 T A SNP TMEM87B ENST00000283206 human ensembl 74_37 +1 known missense c.186 p.F62L 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 62 0 0 45 10 18.1818 ZC3H6 0 genome.wustl.edu 37 2 113080227 113080227 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113080227 113080227 T C SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.1088 p.V363A 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 97 0 0 60 20 25 PQLC3 0 genome.wustl.edu 37 2 11312126 11312126 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 11312126 11312126 A G SNP PQLC3 ENST00000295083 human ensembl 74_37 +1 known missense c.430 p.T144A 0.017 pirsf_MannP-dilichol_defect-1 pirsf_MannP-dilichol_defect-1 - no_errors PQLC3 HGNC ENSG00000162976 167 0 0 102 30 22.7273 POLR1B 0 genome.wustl.edu 37 2 113304624 113304624 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113304624 113304624 G A SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known silent c.327 p.E109 0.113 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 171 0 0 132 29 18.0124 SLC20A1 0 genome.wustl.edu 37 2 113417111 113417111 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113417111 113417111 G A SNP SLC20A1 ENST00000272542 human ensembl 74_37 +1 known missense c.1379 p.R460Q 0.999 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 251 1 0.396825 185 51 21.6102 CKAP2L 0 genome.wustl.edu 37 2 113504147 113504147 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113504147 113504147 T C SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known silent c.1608 p.V536 0.000 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 196 0 0 138 33 19.2982 CKAP2L 0 genome.wustl.edu 37 2 113509871 113509871 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113509871 113509871 C T SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known silent c.1575 p.L525 0.093 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 451 0 0 313 55 14.9457 DDX18 0 genome.wustl.edu 37 2 118577278 118577278 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 118577278 118577278 G A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.424 p.E142K 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 58 0 0 43 11 20.3704 DDX18 0 genome.wustl.edu 37 2 118586976 118586976 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 118586976 118586976 A G SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.1804 p.N602D 0.852 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 350 0 0 248 43 14.7766 CCDC93 0 genome.wustl.edu 37 2 118701647 118701647 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 118701647 118701647 G A SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.1366 p.R456W 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 211 0 0 117 32 21.4765 TMEM177 0 genome.wustl.edu 37 2 120438936 120438936 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 120438936 120438936 C T SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known silent c.507 p.H169 0.698 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 125 0 0 84 26 23.6364 GLI2 0 genome.wustl.edu 37 2 121746705 121746705 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 121746705 121746705 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.3215 p.A1072V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 106 0 0 58 26 30.9524 TFCP2L1 0 genome.wustl.edu 37 2 122038815 122038815 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 122038815 122038815 T C SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known missense c.95 p.E32G 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 153 0 0 92 27 22.6891 LOC254128 0 genome.wustl.edu 37 2 122485562 122485562 + RNA SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 122485562 122485562 C A SNP LOC254128 ENST00000419902 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors AC018737.1 Clone_based_vega_gene ENSG00000236859 25 0 0 20 8 28.5714 MKI67IP 0 genome.wustl.edu 37 2 122493259 122493259 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 122493259 122493259 T G SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.173 p.E58A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 127 0 0 96 16 14.2857 MKI67IP 0 genome.wustl.edu 37 2 122494368 122494368 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 122494368 122494368 A G SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.59 p.V20A 0.000 NULL pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 96 0 0 50 7 12.2807 CNTNAP5 0 genome.wustl.edu 37 2 125504828 125504828 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 125504828 125504828 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2097 p.W699C 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 76 0 0 71 14 16.4706 SNTG2 0 genome.wustl.edu 37 2 1271265 1271265 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 1271265 1271265 C T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.1206 p.N402 0.004 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 42 0 0 32 8 20 MYO7B 0 genome.wustl.edu 37 2 128389955 128389955 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 128389955 128389955 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.5309 p.R1770H 0.997 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 98 0 0 51 20 28.169 UGGT1 0 genome.wustl.edu 37 2 128934410 128934410 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 128934410 128934410 C A SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.3562 p.P1188T 0.999 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 384 0 0 309 50 13.9276 AMER3 0 genome.wustl.edu 37 2 131521980 131521980 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 131521980 131521980 A G SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.2335 p.T779A 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 17 0 0 14 6 30 LOC150776 0 genome.wustl.edu 37 2 132257787 132257787 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 132257787 132257787 C T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.568 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 44 0 0 29 5 14.7059 MGAT5 0 genome.wustl.edu 37 2 135185960 135185960 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 135185960 135185960 T A SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.1819 p.F607I 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 173 0 0 109 26 19.2593 RAB3GAP1 0 genome.wustl.edu 37 2 135848570 135848570 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 135848570 135848570 T C SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known silent c.153 p.G51 0.977 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 210 0 0 148 30 16.8539 LCT 0 genome.wustl.edu 37 2 136548301 136548301 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 136548301 136548301 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.5262 p.Q1754 0.913 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 108 0 0 70 21 23.0769 CXCR4 0 genome.wustl.edu 37 2 136872772 136872772 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 136872772 136872772 G A SNP CXCR4 ENST00000409817 human ensembl 74_37 -1 known silent c.738 p.V246 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 229 0 0 148 35 19.1257 THSD7B 0 genome.wustl.edu 37 2 138169187 138169187 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 138169187 138169187 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2704 p.R902G 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 174 0 0 106 26 19.697 LRP1B 0 genome.wustl.edu 37 2 141232837 141232837 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 141232837 141232837 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9495 p.Q3165H 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 160 0 0 101 29 22.3077 LRP1B 0 genome.wustl.edu 37 2 141243084 141243084 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 141243084 141243084 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9253 p.N3085D 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 90 0 0 64 22 25.5814 KYNU 0 genome.wustl.edu 37 2 143718259 143718259 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 143718259 143718259 G A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.649 p.V217M 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 179 1 0.555556 128 34 20.9877 ARHGAP15 0 genome.wustl.edu 37 2 144525621 144525621 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 144525621 144525621 T C SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known silent c.1308 p.P436 0.953 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 228 0 0 164 33 16.7513 ORC4 0 genome.wustl.edu 37 2 148693233 148693233 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 148693233 148693233 T C SNP ORC4 ENST00000264169 human ensembl 74_37 -1 known missense c.1157 p.K386R 0.994 pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 242 0 0 194 53 21.4575 ORC4 0 genome.wustl.edu 37 2 148733504 148733504 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 148733504 148733504 A G SNP ORC4 ENST00000264169 human ensembl 74_37 -1 known silent c.24 p.S8 0.441 pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 189 1 0.526316 114 20 14.9254 MBD5 0 genome.wustl.edu 37 2 149247708 149247708 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 149247708 149247708 A G SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.3808 p.K1270E 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 104 0 0 101 24 19.2 NMI 0 genome.wustl.edu 37 2 152139394 152139394 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 152139394 152139394 A G SNP NMI ENST00000243346 human ensembl 74_37 -1 known silent c.69 p.D23 0.000 NULL pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors NMI HGNC ENSG00000123609 109 0 0 64 17 20.9877 RIF1 0 genome.wustl.edu 37 2 152321218 152321218 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 152321218 152321218 A T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.5184 p.R1728S 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 88 0 0 74 15 16.8539 NEB 0 genome.wustl.edu 37 2 152476094 152476094 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 152476094 152476094 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.10743 p.I3581 0.085 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 162 0 0 117 27 18.75 NEB 0 genome.wustl.edu 37 2 152584353 152584353 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 152584353 152584353 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.146 p.K49R 0.324 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 130 0 0 89 21 19.0909 FMNL2 0 genome.wustl.edu 37 2 153192179 153192179 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 153192179 153192179 T C SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.62 p.L21S 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 37 0 0 18 5 21.7391 PRPF40A 0 genome.wustl.edu 37 2 153514439 153514439 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 153514439 153514439 T C SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known silent c.2664 p.K888 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 37 0 0 44 12 21.4286 NR4A2 0 genome.wustl.edu 37 2 157185874 157185874 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 157185874 157185874 G A SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known silent c.858 p.Y286 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 17 0 0 11 4 26.6667 GALNT5 0 genome.wustl.edu 37 2 158152254 158152254 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 158152254 158152254 A G SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known silent c.1821 p.L607 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 405 0 0 269 71 20.8824 ERMN 0 genome.wustl.edu 37 2 158182017 158182017 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 158182017 158182017 T C SNP ERMN ENST00000397283 human ensembl 74_37 -1 known silent c.177 p.E59 0.000 NULL superfamily_Moesin_tail - no_errors ERMN HGNC ENSG00000136541 181 0 0 143 32 18.2857 CYTIP 0 genome.wustl.edu 37 2 158287107 158287107 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 158287107 158287107 A C SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known missense c.440 p.V147G 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 120 0 0 100 24 19.3548 ACVR1C 0 genome.wustl.edu 37 2 158412846 158412846 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 158412846 158412846 T C SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known splice_site c.305-2 e3-2 0.745 - - - no_errors ACVR1C HGNC ENSG00000123612 136 0 0 86 28 24.5614 ACVR1 0 genome.wustl.edu 37 2 158594106 158594106 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 158594106 158594106 C A SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known silent c.1467 p.L489 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 186 1 0.534759 125 32 20.3822 UPP2 0 genome.wustl.edu 37 2 158971625 158971625 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 158971625 158971625 G A SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.364 p.G122S 0.999 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 118 0 0 87 34 28.0992 PKP4 0 genome.wustl.edu 37 2 159517885 159517885 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 159517885 159517885 C T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.2134 p.R712W 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 89 0 0 48 40 45.4545 LY75 0 genome.wustl.edu 37 2 160738648 160738648 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 160738648 160738648 T C SNP LY75 ENST00000554112 human ensembl 74_37 -1 known silent c.1233 p.K411 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 225 0 0 182 44 19.469 RBMS1 0 genome.wustl.edu 37 2 161133827 161133827 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 161133827 161133827 G A SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.1169 p.A390V 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 126 0 0 90 25 21.7391 RBMS1 0 genome.wustl.edu 37 2 161135111 161135111 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 161135111 161135111 A G SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.1049 p.I350T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 53 0 0 38 16 29.6296 RBMS1 0 genome.wustl.edu 37 2 161141508 161141508 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 161141508 161141508 G A SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known silent c.795 p.N265 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 141 0 0 97 27 21.7742 TBR1 0 genome.wustl.edu 37 2 162273269 162273269 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 162273269 162273269 G A SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.348 p.A116 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 220 0 0 162 53 24.6512 TBR1 0 genome.wustl.edu 37 2 162275431 162275431 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 162275431 162275431 A G SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known missense c.998 p.Y333C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 102 0 0 64 11 14.6667 GCG 0 genome.wustl.edu 37 2 163002048 163002048 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 163002048 163002048 A G SNP GCG ENST00000375497 human ensembl 74_37 -1 known splice_site c.392+2 e3+2 1.000 - - - no_errors GCG HGNC ENSG00000115263 208 0 0 172 43 20 KCNH7 0 genome.wustl.edu 37 2 163230092 163230092 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 163230092 163230092 T C SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.3212 p.Y1071C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 149 0 0 91 18 16.5138 KCNH7 0 genome.wustl.edu 37 2 163393494 163393494 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 163393494 163393494 T C SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.404 p.N135S 1.000 tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 353 0 0 264 61 18.7692 FIGN 0 genome.wustl.edu 37 2 164467285 164467285 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 164467285 164467285 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1057 p.D353N 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 203 0 0 167 40 19.3237 PXDN 0 genome.wustl.edu 37 2 1652950 1652950 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 1652950 1652950 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2602 p.R868W 0.757 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 16 0 0 8 3 27.2727 XIRP2 0 genome.wustl.edu 37 2 168105878 168105878 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 168105878 168105878 T C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7976 p.V2659A 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 129 0 0 80 32 28.5714 STK39 0 genome.wustl.edu 37 2 168931518 168931518 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 168931518 168931518 G A SNP STK39 ENST00000355999 human ensembl 74_37 -1 known nonsense c.1216 p.R406* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 141 0 0 95 23 19.4915 LRP2 0 genome.wustl.edu 37 2 170044660 170044660 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 170044660 170044660 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9148 p.V3050I 0.001 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 198 0 0 165 45 21.4286 LRP2 0 genome.wustl.edu 37 2 170097525 170097525 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 170097525 170097525 T C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.4018 p.N1340D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 178 0 0 134 25 15.7233 FASTKD1 0 genome.wustl.edu 37 2 170413695 170413695 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 170413695 170413695 A G SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known splice_site c.1082+2 e5+2 0.999 - - - no_errors FASTKD1 HGNC ENSG00000138399 199 0 0 122 44 26.506 SP5 0 genome.wustl.edu 37 2 171572883 171572883 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 171572883 171572883 C T SNP SP5 ENST00000375281 human ensembl 74_37 +1 known nonsense c.166 p.Q56* 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 27 0 0 21 9 30 HAT1 0 genome.wustl.edu 37 2 172823402 172823402 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 172823402 172823402 A G SNP HAT1 ENST00000264108 human ensembl 74_37 +1 known missense c.755 p.H252R 1.000 superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC ENSG00000128708 145 0 0 75 11 12.7907 DLX2 0 genome.wustl.edu 37 2 172965310 172965310 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 172965310 172965310 G A SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known silent c.948 p.G316 0.996 NULL pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 56 0 0 36 15 29.4118 ZAK 0 genome.wustl.edu 37 2 174131421 174131421 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 174131421 174131421 C T SNP ZAK ENST00000375213 human ensembl 74_37 +1 known silent c.2346 p.P782 0.039 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 31 0 0 21 6 22.2222 KIAA1715 0 genome.wustl.edu 37 2 176857025 176857025 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 176857025 176857025 C T SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known nonsense c.191 p.W64* 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 107 0 0 74 13 14.9425 EVX2 0 genome.wustl.edu 37 2 176948405 176948405 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 176948405 176948405 T C SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.100 p.N34D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 136 0 0 90 21 18.9189 HOXD9 0 genome.wustl.edu 37 2 176988303 176988303 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 176988303 176988303 A G SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known silent c.807 p.Q269 1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 23 0 0 15 4 21.0526 HOXD4 0 genome.wustl.edu 37 2 177016792 177016792 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 177016792 177016792 C T SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.431 p.S144L 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 52 0 0 26 7 21.2121 MTX2 0 genome.wustl.edu 37 2 177193105 177193105 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 177193105 177193105 A G SNP MTX2 ENST00000249442 human ensembl 74_37 +1 known missense c.370 p.T124A 1.000 superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC ENSG00000128654 245 0 0 206 47 18.5771 NFE2L2 0 genome.wustl.edu 37 2 178098751 178098751 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 178098751 178098751 T G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known silent c.294 p.G98 0.497 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 137 0 0 93 13 12.2642 AGPS 0 genome.wustl.edu 37 2 178386079 178386079 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 178386079 178386079 G A SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.1780 p.V594I 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 239 1 0.416667 170 33 16.2562 SMC6 0 genome.wustl.edu 37 2 17896257 17896257 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 17896257 17896257 T C SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.1679 p.Y560C 0.998 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 230 0 0 189 34 15.2466 TTN 0 genome.wustl.edu 37 2 179395406 179395406 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179395406 179395406 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.98232 p.L32744 0.110 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 103 0 0 83 16 16.1616 TTN 0 genome.wustl.edu 37 2 179410270 179410270 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179410270 179410270 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.87863 p.R29288H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 703 1 0.142045 486 112 18.7291 TTN 0 genome.wustl.edu 37 2 179425761 179425761 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179425761 179425761 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.77394 p.V25798 0.614 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 377 0 0 229 62 21.3058 TTN 0 genome.wustl.edu 37 2 179426570 179426570 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179426570 179426570 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76585 p.T25529A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 0 0 64 12 15.7895 TTN 0 genome.wustl.edu 37 2 179436182 179436182 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179436182 179436182 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.66973 p.T22325A 0.142 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 149 0 0 95 25 20.8333 TTN 0 genome.wustl.edu 37 2 179440977 179440977 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179440977 179440977 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.62178 p.T20726 0.517 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 88 0 0 71 18 20.2247 TTN 0 genome.wustl.edu 37 2 179446390 179446390 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179446390 179446390 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58901 p.N19634S 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 64 0 0 37 9 19.5652 TTN 0 genome.wustl.edu 37 2 179483496 179483496 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179483496 179483496 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39077 p.Y13026C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 87 0 0 80 15 15.7895 TTN 0 genome.wustl.edu 37 2 179497272 179497272 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179497272 179497272 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.35757 p.S11919 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 170 1 0.584795 128 37 22.4242 TTN 0 genome.wustl.edu 37 2 179540660 179540660 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179540660 179540660 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.30622 p.P10208S 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 32 0 0 25 9 26.4706 TTN 0 genome.wustl.edu 37 2 179553404 179553404 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179553404 179553404 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28465 p.V9489L 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 114 0 0 80 24 23.0769 TTN 0 genome.wustl.edu 37 2 179575918 179575918 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179575918 179575918 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.24313 p.T8105A 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 390 0 0 267 82 23.4957 TTN 0 genome.wustl.edu 37 2 179593250 179593250 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179593250 179593250 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15671 p.C5224S 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 71 0 0 53 6 10.1695 TTN 0 genome.wustl.edu 37 2 179616447 179616447 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179616447 179616447 A G SNP TTN ENST00000360870 human ensembl 74_37 -1 known silent c.10680 p.H3560 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 272 0 0 214 55 20.4461 TTN 0 genome.wustl.edu 37 2 179640599 179640599 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179640599 179640599 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5992 p.R1998C 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 390 0 0 290 62 17.6136 UBE2E3 0 genome.wustl.edu 37 2 181927574 181927574 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 181927574 181927574 G A SNP UBE2E3 ENST00000392415 human ensembl 74_37 +1 known missense c.583 p.D195N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E3 HGNC ENSG00000170035 51 0 0 30 5 14.2857 ITGA4 0 genome.wustl.edu 37 2 182346369 182346369 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 182346369 182346369 G A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.799 p.E267K 0.999 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 116 0 0 75 24 24.2424 ITGA4 0 genome.wustl.edu 37 2 182358109 182358109 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 182358109 182358109 A G SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1211 p.N404S 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 152 0 0 107 6 5.30973 FRZB 0 genome.wustl.edu 37 2 183730857 183730857 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 183730857 183730857 A G SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.424 p.Y142H 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 37 0 0 30 9 23.0769 NCKAP1 0 genome.wustl.edu 37 2 183817966 183817966 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 183817966 183817966 T C SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known silent c.2265 p.V755 0.997 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 163 0 0 153 32 17.2973 ZNF804A 0 genome.wustl.edu 37 2 185731181 185731181 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 185731181 185731181 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.197 p.Y66C 1.000 pfam_Znf_C2H2_jaz pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 135 0 0 94 20 17.5439 FSIP2 0 genome.wustl.edu 37 2 186678590 186678590 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 186678590 186678590 A G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.20413 p.S6805G 0.001 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 128 1 0.775194 109 30 21.5827 ZC3H15 0 genome.wustl.edu 37 2 187360023 187360023 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 187360023 187360023 A G SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.139 p.T47A 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 60 0 0 20 5 20 FAM171B 0 genome.wustl.edu 37 2 187625956 187625956 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 187625956 187625956 T C SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.1129 p.Y377H 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 186 0 0 119 37 23.7179 COL3A1 0 genome.wustl.edu 37 2 189873812 189873812 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 189873812 189873812 A G SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.3688 p.N1230D 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 213 0 0 166 33 16.5829 ANKAR 0 genome.wustl.edu 37 2 190541334 190541334 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 190541334 190541334 C T SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.118 p.R40W 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 137 0 0 105 25 19.2308 ANKAR 0 genome.wustl.edu 37 2 190608058 190608058 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 190608058 190608058 C T SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.3868 p.R1290C 0.998 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 101 0 0 61 21 25.6098 SDPR 0 genome.wustl.edu 37 2 192700728 192700728 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 192700728 192700728 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.1199 p.A400V 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 173 0 0 155 46 22.8856 TMEFF2 0 genome.wustl.edu 37 2 192818525 192818525 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 192818525 192818525 T C SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known missense c.908 p.K303R 1.000 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 128 0 0 117 31 20.9459 SLC39A10 0 genome.wustl.edu 37 2 196593047 196593047 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 196593047 196593047 T C SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known missense c.2311 p.F771L 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 374 0 0 285 69 19.4915 DNAH7 0 genome.wustl.edu 37 2 196640613 196640613 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 196640613 196640613 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.11159 p.Q3720R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 203 0 0 123 40 24.5399 DNAH7 0 genome.wustl.edu 37 2 196746539 196746539 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 196746539 196746539 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5941 p.G1981W 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 246 1 0.404858 192 36 15.7895 DNAH7 0 genome.wustl.edu 37 2 196765042 196765042 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 196765042 196765042 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.4512 p.A1504 0.002 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 309 0 0 260 47 15.3094 DNAH7 0 genome.wustl.edu 37 2 196825620 196825620 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 196825620 196825620 A G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2255 p.V752A 0.006 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 209 0 0 143 37 20.5556 STK17B 0 genome.wustl.edu 37 2 197004484 197004484 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 197004484 197004484 T C SNP STK17B ENST00000263955 human ensembl 74_37 -1 known silent c.696 p.T232 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 248 0 0 173 39 18.3962 STK17B 0 genome.wustl.edu 37 2 197021224 197021224 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 197021224 197021224 G A SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.274 p.R92C 0.472 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 154 0 0 115 30 20.6897 HECW2 0 genome.wustl.edu 37 2 197298107 197298107 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 197298107 197298107 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.41 p.R14H 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 89 0 0 65 16 19.7531 GTF3C3 0 genome.wustl.edu 37 2 197643670 197643670 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 197643670 197643670 A G SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.1340 p.L447P 0.743 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 143 0 0 108 17 13.6 GTF3C3 0 genome.wustl.edu 37 2 197662543 197662543 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 197662543 197662543 G T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known silent c.192 p.S64 0.860 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 178 0 0 118 26 18.0556 SF3B1 0 genome.wustl.edu 37 2 198268397 198268397 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 198268397 198268397 A G SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.1631 p.L544P 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 113 0 0 76 23 23.2323 MYT1L 0 genome.wustl.edu 37 2 1983521 1983521 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 1983521 1983521 T C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.29 p.H10R 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 43 0 0 24 7 22.5806 MOB4 0 genome.wustl.edu 37 2 198405143 198405143 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 198405143 198405143 T A SNP MOB4 ENST00000323303 human ensembl 74_37 +1 known silent c.336 p.A112 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB4 HGNC ENSG00000115540 88 0 0 63 19 23.1707 PLCL1 0 genome.wustl.edu 37 2 198953591 198953591 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 198953591 198953591 G A SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2725 p.V909M 0.996 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 855 1 0.116822 634 135 17.5553 PLCL1 0 genome.wustl.edu 37 2 198968586 198968586 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 198968586 198968586 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.3031 p.A1011S 0.995 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 68 0 0 52 4 7.14286 SPATS2L 0 genome.wustl.edu 37 2 201304024 201304024 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 201304024 201304024 A C SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.715 p.K239Q 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 74 0 0 55 17 23.6111 SPATS2L 0 genome.wustl.edu 37 2 201332111 201332111 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 201332111 201332111 G A SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.1036 p.A346T 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 63 0 0 46 13 22.0339 NDUFB3 0 genome.wustl.edu 37 2 201950221 201950221 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 201950221 201950221 T C SNP NDUFB3 ENST00000237889 human ensembl 74_37 +1 known silent c.180 p.S60 0.425 pfam_NDUFB3 pfam_NDUFB3 - no_errors NDUFB3 HGNC ENSG00000119013 169 1 0.588235 118 39 24.8408 STRADB 0 genome.wustl.edu 37 2 202344807 202344807 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 202344807 202344807 A G SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.1166 p.N389S 0.012 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STRADB HGNC ENSG00000082146 297 1 0.33557 209 45 17.7165 CYP20A1 0 genome.wustl.edu 37 2 204161589 204161589 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 204161589 204161589 A G SNP CYP20A1 ENST00000356079 human ensembl 74_37 +1 known silent c.1347 p.S449 0.599 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 119 0 0 94 15 13.7615 RAPH1 0 genome.wustl.edu 37 2 204354576 204354576 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 204354576 204354576 C T SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.463 p.D155N 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 229 0 0 192 52 21.3115 NRP2 0 genome.wustl.edu 37 2 206580934 206580934 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 206580934 206580934 T A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.269 p.I90N 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 258 0 0 182 53 22.5532 NRP2 0 genome.wustl.edu 37 2 206581054 206581054 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 206581054 206581054 G A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.389 p.R130Q 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 168 0 0 110 26 19.1176 ZDBF2 0 genome.wustl.edu 37 2 207173178 207173178 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 207173178 207173178 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.3926 p.L1309P 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 52 0 0 50 12 19.3548 ADAM23 0 genome.wustl.edu 37 2 207426927 207426927 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 207426927 207426927 T C SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1255 p.Y419H 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 399 0 0 276 47 14.5511 CCNYL1 0 genome.wustl.edu 37 2 208607011 208607011 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 208607011 208607011 T C SNP CCNYL1 ENST00000295414 human ensembl 74_37 +1 known missense c.584 p.V195A 1.000 pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNYL1 HGNC ENSG00000163249 245 0 0 171 39 18.5714 FZD5 0 genome.wustl.edu 37 2 208632318 208632318 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 208632318 208632318 G A SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known silent c.1146 p.D382 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 24 0 0 23 2 8 CRYGC 0 genome.wustl.edu 37 2 208994373 208994373 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 208994373 208994373 C T SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known missense c.44 p.R15H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 255 1 0.390625 151 53 25.9804 PIKFYVE 0 genome.wustl.edu 37 2 209150475 209150475 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 209150475 209150475 T C SNP PIKFYVE ENST00000443896 human ensembl 74_37 +1 known missense c.467 p.V156A 1.000 NULL NULL - no_errors PIKFYVE HGNC ENSG00000115020 272 0 0 190 56 22.7642 PIKFYVE 0 genome.wustl.edu 37 2 209200094 209200094 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 209200094 209200094 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.4207 p.A1403T 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 450 0 0 311 60 16.1725 MAP2 0 genome.wustl.edu 37 2 210560125 210560125 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 210560125 210560125 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.3231 p.D1077 0.006 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 120 1 0.826446 93 27 22.5 MAP2 0 genome.wustl.edu 37 2 210594919 210594919 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 210594919 210594919 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.5282 p.K1761T 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 39 0 0 22 8 26.6667 LANCL1 0 genome.wustl.edu 37 2 211319864 211319864 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 211319864 211319864 T C SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.374 p.N125S 1.000 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 125 0 0 109 16 12.8 CPS1 0 genome.wustl.edu 37 2 211502472 211502472 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 211502472 211502472 T A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.2752 p.F918I 0.998 pfam_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 188 0 0 132 28 17.5 APOB 0 genome.wustl.edu 37 2 21242613 21242613 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 21242613 21242613 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.2981 p.P994L 0.999 pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 71 0 0 41 10 19.6078 ERBB4 0 genome.wustl.edu 37 2 212989574 212989574 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 212989574 212989574 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.137 p.Y46C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 99 0 0 56 25 30.8642 VWC2L 0 genome.wustl.edu 37 2 215440456 215440456 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 215440456 215440456 A G SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known missense c.581 p.E194G 1.000 NULL smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 321 1 0.310559 239 43 15.2482 ABCA12 0 genome.wustl.edu 37 2 215813766 215813766 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 215813766 215813766 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.6960 p.T2320 0.858 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 209 0 0 150 27 15.2542 FN1 0 genome.wustl.edu 37 2 216240093 216240093 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 216240093 216240093 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.6001 p.R2001C 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 64 0 0 56 16 22.2222 TNS1 0 genome.wustl.edu 37 2 218682425 218682425 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 218682425 218682425 A G SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.4318 p.Y1440H 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 87 0 0 65 14 17.7215 BCS1L 0 genome.wustl.edu 37 2 219526551 219526551 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219526551 219526551 G A SNP BCS1L ENST00000359273 human ensembl 74_37 +1 known missense c.530 p.R177H 1.000 pfam_BCS1_N,superfamily_P-loop_NTPase pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 53 0 0 40 14 25.9259 STK36 0 genome.wustl.edu 37 2 219554645 219554645 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219554645 219554645 A G SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.1624 p.T542A 0.940 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 38 0 0 20 3 13.0435 TTLL4 0 genome.wustl.edu 37 2 219602475 219602475 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219602475 219602475 G T SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.76 p.G26C 0.994 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 92 0 0 81 15 15.625 TTLL4 0 genome.wustl.edu 37 2 219603313 219603313 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219603313 219603313 A G SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.914 p.Y305C 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 221 0 0 177 52 22.7074 PRKAG3 0 genome.wustl.edu 37 2 219694778 219694778 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219694778 219694778 G A SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known missense c.556 p.R186C 1.000 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 120 0 0 121 20 14.1844 WNT10A 0 genome.wustl.edu 37 2 219746929 219746929 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219746929 219746929 G A SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known missense c.160 p.V54M 0.989 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 69 0 0 54 13 19.403 NHEJ1 0 genome.wustl.edu 37 2 219942915 219942915 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219942915 219942915 G A SNP NHEJ1 ENST00000409720 human ensembl 74_37 -1 known missense c.602 p.A201V 0.956 NULL pfam_XLF/Cernunnos - no_errors NHEJ1 HGNC ENSG00000187736 116 0 0 78 19 19.5876 ABCB6 0 genome.wustl.edu 37 2 220075831 220075831 + Splice_Site SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220075831 220075831 C A SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known splice_site c.1969-1 e15-1 1.000 - - - no_errors ABCB6 HGNC ENSG00000115657 144 0 0 66 19 22.3529 TUBA4B 0 genome.wustl.edu 37 2 220136569 220136569 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220136569 220136569 T C SNP TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 60 0 0 33 12 26.6667 SPEG 0 genome.wustl.edu 37 2 220309422 220309422 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220309422 220309422 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.436 p.R146C 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 67 0 0 48 12 20 SPEG 0 genome.wustl.edu 37 2 220333749 220333749 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220333749 220333749 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3470 p.R1157Q 0.938 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 44 0 0 34 10 22.7273 OBSL1 0 genome.wustl.edu 37 2 220416496 220416496 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220416496 220416496 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.5438 p.H1813R 0.983 pfam_Ig_I-set,pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 15 0 0 17 4 19.0476 OBSL1 0 genome.wustl.edu 37 2 220428124 220428124 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220428124 220428124 T C SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2633 p.Q878R 0.934 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 19 0 0 14 7 33.3333 OBSL1 0 genome.wustl.edu 37 2 220431818 220431818 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220431818 220431818 T G SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1868 p.E623A 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 24 0 0 22 6 21.4286 STK11IP 0 genome.wustl.edu 37 2 220476719 220476719 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220476719 220476719 G A SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.2378 p.R793Q 1.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 15 0 0 4 4 50 SLC4A3 0 genome.wustl.edu 37 2 220502890 220502890 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 220502890 220502890 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.2852 p.R951H 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 33 0 0 30 4 11.7647 EPHA4 0 genome.wustl.edu 37 2 222298873 222298873 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 222298873 222298873 A G SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.2485 p.S829P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 190 0 0 138 30 17.8571 WDFY1 0 genome.wustl.edu 37 2 224763705 224763705 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 224763705 224763705 A G SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known missense c.568 p.S190P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 264 0 0 180 43 19.2825 DOCK10 0 genome.wustl.edu 37 2 225740890 225740890 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 225740890 225740890 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.796 p.T266A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 47 0 0 52 12 18.75 COL4A3 0 genome.wustl.edu 37 2 228121099 228121099 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 228121099 228121099 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.974 p.E325G 0.996 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 177 0 0 87 25 22.3214 SLC19A3 0 genome.wustl.edu 37 2 228552887 228552887 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 228552887 228552887 T A SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.1309 p.I437F 0.761 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 193 0 0 138 31 18.3432 SLC19A3 0 genome.wustl.edu 37 2 228563875 228563875 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 228563875 228563875 A G SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.556 p.F186L 0.001 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 173 1 0.574713 114 22 16.1765 CCL20 0 genome.wustl.edu 37 2 228682009 228682009 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 228682009 228682009 T C SNP CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCL20 HGNC ENSG00000115009 13 0 0 4 2 33.3333 TRIP12 0 genome.wustl.edu 37 2 230683187 230683187 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 230683187 230683187 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.1348 p.D450N 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 215 0 0 177 42 19.1781 TRIP12 0 genome.wustl.edu 37 2 230723955 230723955 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 230723955 230723955 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.434 p.R145Q 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 263 0 0 210 51 19.5402 SP140L 0 genome.wustl.edu 37 2 231254679 231254679 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 231254679 231254679 T C SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.905 p.L302S 0.002 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 130 0 0 79 15 15.9574 SP100 0 genome.wustl.edu 37 2 231331847 231331847 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 231331847 231331847 A G SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1208 p.D403G 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 275 0 0 196 49 20 PSMD1 0 genome.wustl.edu 37 2 231941799 231941799 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 231941799 231941799 G A SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.994 p.E332K 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 117 0 0 65 14 17.7215 HTR2B 0 genome.wustl.edu 37 2 231973323 231973323 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 231973323 231973323 T C SNP HTR2B ENST00000258400 human ensembl 74_37 -1 known missense c.1354 p.T452A 0.994 prints_5HT2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 85 0 0 67 17 20.2381 HTR2B 0 genome.wustl.edu 37 2 231973661 231973661 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 231973661 231973661 G T SNP HTR2B ENST00000258400 human ensembl 74_37 -1 known missense c.1016 p.P339H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 241 0 0 157 48 23.4146 ARMC9 0 genome.wustl.edu 37 2 232156084 232156084 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 232156084 232156084 C T SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known missense c.1645 p.R549C 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 259 0 0 185 34 15.5251 EFHD1 0 genome.wustl.edu 37 2 233527579 233527579 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 233527579 233527579 G C SNP EFHD1 ENST00000264059 human ensembl 74_37 +1 known missense c.370 p.A124P 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 86 0 0 35 14 28.5714 GIGYF2 0 genome.wustl.edu 37 2 233620987 233620987 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 233620987 233620987 G C SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.322 p.G108R 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 97 0 0 67 10 12.987 NEU2 0 genome.wustl.edu 37 2 233897415 233897415 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 233897415 233897415 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.34 p.V12M 0.001 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 193 1 0.515464 135 23 14.557 AGAP1 0 genome.wustl.edu 37 2 236649676 236649676 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 236649676 236649676 G C SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.380 p.G127A 1.000 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 83 0 0 49 10 16.9492 COL6A3 0 genome.wustl.edu 37 2 238257297 238257297 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 238257297 238257297 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.6889 p.G2297R 0.999 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 62 0 0 48 8 14.2857 COL6A3 0 genome.wustl.edu 37 2 238287506 238287506 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 238287506 238287506 T A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2270 p.D757V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 60 0 0 43 11 20.3704 COL6A3 0 genome.wustl.edu 37 2 238303834 238303834 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 238303834 238303834 A G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.105 p.G35 0.976 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 101 1 0.980392 54 10 15.625 RBM44 0 genome.wustl.edu 37 2 238725821 238725821 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 238725821 238725821 A G SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.262 p.T88A 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 114 0 0 79 17 17.7083 UBE2F 0 genome.wustl.edu 37 2 238925217 238925217 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 238925217 238925217 A G SNP UBE2F ENST00000272930 human ensembl 74_37 +1 known missense c.224 p.Y75C 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2F HGNC ENSG00000184182 240 0 0 164 48 22.6415 PER2 0 genome.wustl.edu 37 2 239181712 239181712 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 239181712 239181712 G A SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.569 p.A190V 0.172 superfamily_PAS,smart_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 89 0 0 60 13 17.8082 GPC1 0 genome.wustl.edu 37 2 241401896 241401896 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 241401896 241401896 C T SNP GPC1 ENST00000264039 human ensembl 74_37 +1 known missense c.614 p.A205V 0.719 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 12 0 0 13 3 18.75 GPC1 0 genome.wustl.edu 37 2 241404053 241404053 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 241404053 241404053 G A SNP GPC1 ENST00000264039 human ensembl 74_37 +1 known missense c.904 p.D302N 0.983 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC ENSG00000063660 71 0 0 48 11 18.6441 FARP2 0 genome.wustl.edu 37 2 242432345 242432345 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 242432345 242432345 A G SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.2789 p.N930S 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 158 0 0 117 34 22.5166 ING5 0 genome.wustl.edu 37 2 242644110 242644110 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 242644110 242644110 T A SNP ING5 ENST00000313552 human ensembl 74_37 +1 known missense c.80 p.L27Q 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC ENSG00000168395 182 0 0 141 42 22.9508 ING5 0 genome.wustl.edu 37 2 242662478 242662478 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 242662478 242662478 G A SNP ING5 ENST00000313552 human ensembl 74_37 +1 known missense c.607 p.D203N 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC ENSG00000168395 100 0 0 68 25 26.8817 CXXC11 0 genome.wustl.edu 37 2 242813886 242813886 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 242813886 242813886 C A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known missense c.179 p.P60Q 0.041 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 12 0 0 9 4 30.7692 ITSN2 0 genome.wustl.edu 37 2 24480829 24480829 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 24480829 24480829 A G SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.2816 p.V939A 0.996 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 200 0 0 159 34 17.6166 ITSN2 0 genome.wustl.edu 37 2 24480952 24480952 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 24480952 24480952 A G SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.2693 p.V898A 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 146 0 0 119 18 13.1387 NCOA1 0 genome.wustl.edu 37 2 24888673 24888673 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 24888673 24888673 T A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.145 p.L49I 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 146 0 0 113 28 19.8582 NCOA1 0 genome.wustl.edu 37 2 24928022 24928022 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 24928022 24928022 C T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known silent c.1017 p.S339 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 201 0 0 146 29 16.5714 CENPO 0 genome.wustl.edu 37 2 25039542 25039542 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 25039542 25039542 C T SNP CENPO ENST00000260662 human ensembl 74_37 +1 known missense c.622 p.P208S 0.993 NULL pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 1026 1 0.097371 628 152 19.4872 POMC 0 genome.wustl.edu 37 2 25387620 25387620 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 25387620 25387620 G A SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.22 p.R8C 0.002 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 104 0 0 73 20 21.5054 DNMT3A 0 genome.wustl.edu 37 2 25468893 25468893 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 25468893 25468893 A G SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.1470 p.I490 0.497 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 92 0 0 59 24 28.9157 SLC35F6 0 genome.wustl.edu 37 2 27000990 27000990 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27000990 27000990 C T SNP SLC35F6 ENST00000344420 human ensembl 74_37 +1 known missense c.727 p.R243C 0.889 pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 - no_errors SLC35F6 HGNC ENSG00000213699 131 0 0 96 19 16.5217 ACP1 0 genome.wustl.edu 37 2 271876 271876 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 271876 271876 T C SNP ACP1 ENST00000405364 human ensembl 74_37 +1 known missense c.101 p.V34A 0.935 NULL NULL - no_errors ACP1 HGNC ENSG00000143727 271 0 0 170 44 20.5607 TMEM214 0 genome.wustl.edu 37 2 27262941 27262941 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27262941 27262941 A G SNP TMEM214 ENST00000238788 human ensembl 74_37 +1 known missense c.1666 p.T556A 0.004 pfam_DUF2359_TMEM214 pfam_DUF2359_TMEM214 - no_errors TMEM214 HGNC ENSG00000119777 95 0 0 72 10 12.1951 EMILIN1 0 genome.wustl.edu 37 2 27305042 27305042 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27305042 27305042 A G SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known silent c.603 p.G201 0.968 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 53 0 0 36 8 18.1818 ABHD1 0 genome.wustl.edu 37 2 27351433 27351433 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27351433 27351433 T C SNP ABHD1 ENST00000316470 human ensembl 74_37 +1 known missense c.239 p.V80A 0.023 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD1 HGNC ENSG00000143994 239 0 0 179 32 15.1659 SLC5A6 0 genome.wustl.edu 37 2 27430127 27430127 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27430127 27430127 T C SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.392 p.E131G 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 61 0 0 50 11 18.0328 ATRAID 0 genome.wustl.edu 37 2 27439752 27439752 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27439752 27439752 C A SNP ATRAID ENST00000380171 human ensembl 74_37 +1 known missense c.791 p.A264D 1.000 NULL pfscan_EG-like_dom - no_errors ATRAID HGNC ENSG00000138085 125 0 0 86 12 12.2449 CAD 0 genome.wustl.edu 37 2 27444118 27444118 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27444118 27444118 A G SNP CAD ENST00000264705 human ensembl 74_37 +1 known silent c.255 p.A85 1.000 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 51 0 0 43 11 20.3704 IFT172 0 genome.wustl.edu 37 2 27670413 27670413 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27670413 27670413 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.4628 p.T1543M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 221 0 0 139 38 21.4689 C2orf16 0 genome.wustl.edu 37 2 27802997 27802997 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27802997 27802997 A G SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known silent c.3558 p.R1186 0.008 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 198 0 0 113 31 21.5278 GPN1 0 genome.wustl.edu 37 2 27854759 27854759 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27854759 27854759 T C SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.346 p.F116L 1.000 pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 239 0 0 167 46 21.5962 MRPL33 0 genome.wustl.edu 37 2 27994648 27994648 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27994648 27994648 T C SNP MRPL33 ENST00000448427 human ensembl 74_37 +1 known missense c.4 p.F2L 0.993 NULL NULL - no_errors MRPL33 HGNC ENSG00000243147 35 0 0 21 6 22.2222 RBKS 0 genome.wustl.edu 37 2 28081321 28081321 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 28081321 28081321 C T SNP RBKS ENST00000302188 human ensembl 74_37 -1 known silent c.207 p.T69 0.232 pfam_PfkB_dom,tigrfam_D_ribokin_bac pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac - no_errors RBKS HGNC ENSG00000171174 129 0 0 73 24 24.7423 FOSL2 0 genome.wustl.edu 37 2 28631696 28631696 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 28631696 28631696 G A SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.425 p.R142Q 1.000 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 31 0 0 17 4 19.0476 WDR43 0 genome.wustl.edu 37 2 29124900 29124900 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 29124900 29124900 T C SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known silent c.273 p.S91 0.977 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 158 0 0 129 16 11.0345 ALK 0 genome.wustl.edu 37 2 29498087 29498087 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 29498087 29498087 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.1919 p.G640E 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 139 0 0 91 30 24.7934 LCLAT1 0 genome.wustl.edu 37 2 30756115 30756115 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 30756115 30756115 G A SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known missense c.413 p.R138Q 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 407 0 0 302 65 17.7112 BIRC6 0 genome.wustl.edu 37 2 32658760 32658760 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 32658760 32658760 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.3297 p.C1099 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 61 0 0 40 15 27.2727 BIRC6 0 genome.wustl.edu 37 2 32664624 32664624 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 32664624 32664624 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.3680 p.V1227A 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 72 0 0 37 21 36.2069 LTBP1 0 genome.wustl.edu 37 2 33586574 33586574 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 33586574 33586574 A G SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.4265 p.N1422S 0.999 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 106 1 0.934579 78 12 13.3333 MYADML 0 genome.wustl.edu 37 2 33952026 33952026 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 33952026 33952026 G A SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors MYADML HGNC ENSG00000239649 8 0 0 5 3 37.5 VIT 0 genome.wustl.edu 37 2 36970392 36970392 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 36970392 36970392 G A SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.268 p.V90I 0.778 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 92 0 0 78 23 22.7723 QPCT 0 genome.wustl.edu 37 2 37594397 37594397 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 37594397 37594397 A T SNP QPCT ENST00000338415 human ensembl 74_37 +1 known missense c.569 p.D190V 1.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 294 0 0 214 46 17.6923 RMDN2 0 genome.wustl.edu 37 2 38231304 38231304 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 38231304 38231304 A G SNP RMDN2 ENST00000234195 human ensembl 74_37 +1 known missense c.1658 p.Q553R 0.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 233 0 0 146 29 16.5714 ATL2 0 genome.wustl.edu 37 2 38525536 38525536 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 38525536 38525536 T C SNP ATL2 ENST00000378954 human ensembl 74_37 -1 known missense c.1382 p.K461R 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 236 0 0 176 46 20.7207 SOS1 0 genome.wustl.edu 37 2 39237753 39237753 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 39237753 39237753 T C SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.2482 p.T828A 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 142 0 0 100 24 19.3548 PKDCC 0 genome.wustl.edu 37 2 42284920 42284920 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 42284920 42284920 A G SNP PKDCC ENST00000480099 human ensembl 74_37 +1 known rna NULL NULL 0.906 - - - no_errors PKDCC HGNC ENSG00000162878 12 0 0 10 5 33.3333 COX7A2L 0 genome.wustl.edu 37 2 42578469 42578469 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 42578469 42578469 G A SNP COX7A2L ENST00000234301 human ensembl 74_37 -1 known nonsense c.235 p.R79* 1.000 pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt - no_errors COX7A2L HGNC ENSG00000115944 71 0 0 49 10 16.9492 LRPPRC 0 genome.wustl.edu 37 2 44187750 44187750 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 44187750 44187750 A G SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known silent c.1512 p.S504 0.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 275 0 0 200 45 18.3673 SIX2 0 genome.wustl.edu 37 2 45236051 45236051 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 45236051 45236051 A G SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known missense c.199 p.Y67H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 90 0 0 54 14 20.5882 MSH6 0 genome.wustl.edu 37 2 48027122 48027122 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 48027122 48027122 A T SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.2000 p.D667V 1.000 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 419 0 0 270 56 17.1779 MSH6 0 genome.wustl.edu 37 2 48027725 48027725 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 48027725 48027725 T C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.2603 p.M868T 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 258 0 0 186 54 22.5 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808756 48808756 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 48808756 48808756 T C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.984 p.C328 1.000 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 287 0 0 205 50 19.6078 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48872208 48872208 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 48872208 48872208 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.2452 p.G818S 1.000 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 160 0 0 97 18 15.6522 FSHR 0 genome.wustl.edu 37 2 49190230 49190230 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 49190230 49190230 A G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1730 p.L577P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 64 0 0 36 13 26.5306 NRXN1 0 genome.wustl.edu 37 2 50464031 50464031 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 50464031 50464031 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known nonsense c.3418 p.R1140* 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 136 0 0 93 25 21.1864 NRXN1 0 genome.wustl.edu 37 2 51254957 51254957 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 51254957 51254957 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.455 p.G152D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 21 0 0 20 8 28.5714 PSME4 0 genome.wustl.edu 37 2 54125072 54125072 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 54125072 54125072 A G SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.3541 p.L1181 0.607 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 236 0 0 154 31 16.7568 SPTBN1 0 genome.wustl.edu 37 2 54873365 54873365 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 54873365 54873365 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.4619 p.R1540H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 295 0 0 156 37 19.171 CLHC1 0 genome.wustl.edu 37 2 55449384 55449384 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 55449384 55449384 T C SNP CLHC1 ENST00000401408 human ensembl 74_37 -1 known missense c.164 p.N55S 0.798 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC ENSG00000162994 205 0 0 114 31 21.3793 MTIF2 0 genome.wustl.edu 37 2 55470795 55470795 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 55470795 55470795 G A SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1321 p.R441C 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 318 0 0 210 62 22.7941 CCDC88A 0 genome.wustl.edu 37 2 55573429 55573429 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 55573429 55573429 T C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.923 p.Y308C 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 217 0 0 132 41 23.6994 PAPOLG 0 genome.wustl.edu 37 2 61019297 61019297 + Nonsense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 61019297 61019297 G T SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known nonsense c.1552 p.G518* 1.000 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 162 0 0 140 28 16.6667 KIAA1841 0 genome.wustl.edu 37 2 61361409 61361409 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 61361409 61361409 A G SNP KIAA1841 ENST00000462959 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KIAA1841 HGNC ENSG00000162929 30 0 0 18 7 28 COMMD1 0 genome.wustl.edu 37 2 62228080 62228080 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 62228080 62228080 T C SNP COMMD1 ENST00000311832 human ensembl 74_37 +1 known missense c.425 p.V142A 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD1 HGNC ENSG00000173163 101 0 0 85 20 19.0476 EHBP1 0 genome.wustl.edu 37 2 62991483 62991483 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 62991483 62991483 T C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.245 p.V82A 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 179 0 0 118 35 22.8758 EHBP1 0 genome.wustl.edu 37 2 63092036 63092036 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 63092036 63092036 A C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.1033 p.I345L 0.134 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 206 0 0 176 25 12.4378 EHBP1 0 genome.wustl.edu 37 2 63176256 63176256 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 63176256 63176256 A G SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known missense c.2380 p.T794A 0.001 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 118 0 0 101 12 10.6195 WDPCP 0 genome.wustl.edu 37 2 63631685 63631685 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 63631685 63631685 C T SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known silent c.933 p.E311 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 163 0 0 117 31 20.9459 MDH1 0 genome.wustl.edu 37 2 63832446 63832446 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 63832446 63832446 G T SNP MDH1 ENST00000539945 human ensembl 74_37 +1 known missense c.762 p.K254N 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 82 0 0 59 23 28.0488 AFTPH 0 genome.wustl.edu 37 2 64779360 64779360 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 64779360 64779360 C T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.752 p.A251V 0.065 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 141 0 0 111 20 15.2672 ACTR2 0 genome.wustl.edu 37 2 65482703 65482703 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 65482703 65482703 T C SNP ACTR2 ENST00000377982 human ensembl 74_37 +1 known missense c.625 p.F209L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 246 0 0 157 49 23.7864 ADD2 0 genome.wustl.edu 37 2 70915174 70915174 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 70915174 70915174 C A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.930 p.Q310H 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 116 0 0 78 19 19.5876 ATP6V1B1 0 genome.wustl.edu 37 2 71163109 71163109 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71163109 71163109 C T SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.25 p.P9S 0.012 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 52 0 0 46 9 16.3636 ATP6V1B1 0 genome.wustl.edu 37 2 71187158 71187158 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71187158 71187158 C A SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.535 p.R179S 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 88 0 0 56 18 24.3243 ZNF638 0 genome.wustl.edu 37 2 71576963 71576963 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71576963 71576963 G A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.879 p.M293I 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 360 0 0 253 57 18.3871 RNF144A 0 genome.wustl.edu 37 2 7170296 7170296 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 7170296 7170296 C T SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.697 p.R233W 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 197 0 0 123 23 15.7534 DYSF 0 genome.wustl.edu 37 2 71788894 71788894 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71788894 71788894 T C SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.2268 p.G756 0.000 pfam_Ferlin_A-domain pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 133 1 0.746269 80 21 20.7921 PRADC1 0 genome.wustl.edu 37 2 73455993 73455993 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 73455993 73455993 C T SNP PRADC1 ENST00000258083 human ensembl 74_37 -1 known missense c.376 p.V126M 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain - no_errors PRADC1 HGNC ENSG00000135617 38 0 0 26 4 13.3333 CCT7 0 genome.wustl.edu 37 2 73479961 73479961 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 73479961 73479961 G A SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known missense c.1604 p.R535Q 1.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 47 0 0 27 8 22.8571 ALMS1 0 genome.wustl.edu 37 2 73651914 73651914 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 73651914 73651914 A G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.1121 p.D374G 0.978 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 130 0 0 88 16 15.3846 MTHFD2 0 genome.wustl.edu 37 2 74438395 74438395 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74438395 74438395 C T SNP MTHFD2 ENST00000394053 human ensembl 74_37 +1 known missense c.740 p.A247V 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2 HGNC ENSG00000065911 185 0 0 128 39 23.3533 SLC4A5 0 genome.wustl.edu 37 2 74474176 74474176 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74474176 74474176 G A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known silent c.2046 p.V682 0.664 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 295 0 0 250 67 21.1356 DCTN1 0 genome.wustl.edu 37 2 74597614 74597614 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74597614 74597614 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1106 p.R369H 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 68 0 0 53 16 23.1884 RTKN 0 genome.wustl.edu 37 2 74654556 74654556 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74654556 74654556 T C SNP RTKN ENST00000272430 human ensembl 74_37 -1 known missense c.1250 p.D417G 1.000 smart_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 386 3 0.771208 292 76 20.6522 MOGS 0 genome.wustl.edu 37 2 74688480 74688480 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74688480 74688480 G A SNP MOGS ENST00000233616 human ensembl 74_37 -1 known silent c.2436 p.R812 0.985 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 69 0 0 69 28 28.866 MOGS 0 genome.wustl.edu 37 2 74691666 74691666 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74691666 74691666 T G SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.536 p.Q179P 1.000 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 109 0 0 69 22 24.1758 AUP1 0 genome.wustl.edu 37 2 74756004 74756004 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 74756004 74756004 T C SNP AUP1 ENST00000377526 human ensembl 74_37 -1 known missense c.398 p.N133S 1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 125 1 0.793651 98 22 18.3333 TACR1 0 genome.wustl.edu 37 2 75425766 75425766 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 75425766 75425766 A G SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known missense c.295 p.Y99H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 137 0 0 88 41 31.7829 LRRTM4 0 genome.wustl.edu 37 2 77745646 77745646 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 77745646 77745646 T C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.1352 p.Y451C 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 88 0 0 51 10 16.3934 CTNNA2 0 genome.wustl.edu 37 2 80816514 80816514 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 80816514 80816514 A C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2195 p.D732A 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 125 0 0 72 10 12.1951 RETSAT 0 genome.wustl.edu 37 2 85571218 85571218 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 85571218 85571218 C A SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.1437 p.K479N 0.170 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 64 0 0 57 12 17.3913 RETSAT 0 genome.wustl.edu 37 2 85571464 85571464 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 85571464 85571464 G A SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.1264 p.R422C 0.396 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 70 0 0 44 13 22.807 SH2D6 0 genome.wustl.edu 37 2 85662598 85662598 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 85662598 85662598 T C SNP SH2D6 ENST00000340326 human ensembl 74_37 +1 known silent c.231 p.S77 0.094 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D6 HGNC ENSG00000152292 85 0 0 79 13 14.1304 PTCD3 0 genome.wustl.edu 37 2 86352118 86352118 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 86352118 86352118 A G SNP PTCD3 ENST00000409277 human ensembl 74_37 +1 known missense c.593 p.E198G 0.999 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 69 0 0 37 20 35.0877 REEP1 0 genome.wustl.edu 37 2 86479109 86479109 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 86479109 86479109 C T SNP REEP1 ENST00000538924 human ensembl 74_37 -1 known missense c.409 p.A137T 0.998 NULL pfam_TB2_DP1_HVA22 - no_errors REEP1 HGNC ENSG00000068615 380 0 0 222 34 13.2812 KIDINS220 0 genome.wustl.edu 37 2 8871241 8871241 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 8871241 8871241 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.4925 p.R1642Q 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 127 0 0 121 30 19.8675 KIDINS220 0 genome.wustl.edu 37 2 8871508 8871508 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 8871508 8871508 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.4658 p.P1553L 0.007 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 266 0 0 182 58 24.1667 TEX37 0 genome.wustl.edu 37 2 88828868 88828868 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 88828868 88828868 A G SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known missense c.419 p.H140R 0.009 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 148 1 0.671141 109 35 24.3056 EIF2AK3 0 genome.wustl.edu 37 2 88885403 88885403 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 88885403 88885403 T C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1606 p.T536A 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 158 0 0 104 34 24.6377 KIDINS220 0 genome.wustl.edu 37 2 8967216 8967216 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 8967216 8967216 A G SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.8 p.V3A 0.854 superfamily_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 81 0 0 47 18 27.6923 TEKT4 0 genome.wustl.edu 37 2 95537557 95537557 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 95537557 95537557 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.233 p.A78V 0.995 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 34 0 0 26 7 21.2121 LOC101929518 0 genome.wustl.edu 37 2 95558257 95558257 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 95558257 95558257 T C SNP LOC101929518 ENST00000582835 human ensembl 74_37 -1 known rna NULL NULL 0.949 - - - no_errors AC097374.2 Clone_based_vega_gene ENSG00000259848 95 0 0 59 14 19.1781 MAL 0 genome.wustl.edu 37 2 95719178 95719178 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 95719178 95719178 T C SNP MAL ENST00000309988 human ensembl 74_37 +1 known missense c.440 p.L147S 0.919 NULL pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 282 0 0 199 49 19.7581 ZNF2 0 genome.wustl.edu 37 2 95847341 95847341 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 95847341 95847341 A G SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known silent c.768 p.K256 0.987 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 266 0 0 167 44 20.8531 ADAM17 0 genome.wustl.edu 37 2 9630364 9630364 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 9630364 9630364 G A SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.2417 p.A806V 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 90 0 0 73 25 25.5102 ARID5A 0 genome.wustl.edu 37 2 97216987 97216987 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 97216987 97216987 G A SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known missense c.722 p.R241Q 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 83 0 0 54 14 20.5882 YWHAQ 0 genome.wustl.edu 37 2 9727550 9727550 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 9727550 9727550 T C SNP YWHAQ ENST00000238081 human ensembl 74_37 -1 known missense c.671 p.N224S 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ENSG00000134308 154 0 0 107 28 20.7407 LMAN2L 0 genome.wustl.edu 37 2 97377619 97377619 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 97377619 97377619 G A SNP LMAN2L ENST00000377079 human ensembl 74_37 -1 known silent c.684 p.Y228 0.997 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC ENSG00000114988 135 0 0 104 27 20.6107 CNNM4 0 genome.wustl.edu 37 2 97427380 97427380 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 97427380 97427380 G A SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.644 p.R215H 1.000 pfam_DUF21 pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 127 0 0 108 26 19.403 SEMA4C 0 genome.wustl.edu 37 2 97526807 97526807 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 97526807 97526807 C T SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known silent c.2058 p.L686 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 41 0 0 29 2 6.45161 SEMA4C 0 genome.wustl.edu 37 2 97530013 97530013 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 97530013 97530013 G A SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.1069 p.R357C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 186 0 0 127 38 23.0303 ACTR1B 0 genome.wustl.edu 37 2 98275421 98275421 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 98275421 98275421 G A SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.361 p.R121W 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 218 0 0 160 36 18.3673 TMEM131 0 genome.wustl.edu 37 2 98411544 98411544 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 98411544 98411544 G A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.3235 p.R1079W 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 84 0 0 47 12 20.339 CNGA3 0 genome.wustl.edu 37 2 99006150 99006150 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99006150 99006150 T C SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.479 p.V160A 0.968 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 247 1 0.403226 148 26 14.9425 KIAA1211L 0 genome.wustl.edu 37 2 99454683 99454683 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99454683 99454683 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.138 p.P46 0.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 64 0 0 45 11 19.6429 TSGA10 0 genome.wustl.edu 37 2 99636888 99636888 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99636888 99636888 C T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.1672 p.A558T 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 122 0 0 101 16 13.6752 MITD1 0 genome.wustl.edu 37 2 99787981 99787981 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99787981 99787981 T C SNP MITD1 ENST00000289359 human ensembl 74_37 -1 known missense c.382 p.T128A 0.004 NULL pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 140 0 0 87 19 17.9245 LYG1 0 genome.wustl.edu 37 2 99909004 99909004 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99909004 99909004 T C SNP LYG1 ENST00000308528 human ensembl 74_37 -1 known missense c.143 p.Y48C 0.985 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 136 0 0 75 22 22.6804 SNAP25 0 genome.wustl.edu 37 20 10277662 10277662 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 10277662 10277662 G A SNP SNAP25 ENST00000254976 human ensembl 74_37 +1 known missense c.371 p.R124Q 1.000 pfam_SNAP-25 pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP25 HGNC ENSG00000132639 71 0 0 57 6 9.52381 JAG1 0 genome.wustl.edu 37 20 10624479 10624479 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 10624479 10624479 T C SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.2405 p.N802S 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 67 0 0 39 10 20.4082 TMEM74B 0 genome.wustl.edu 37 20 1161734 1161734 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 1161734 1161734 T C SNP TMEM74B ENST00000381894 human ensembl 74_37 -1 known missense c.529 p.I177V 1.000 NULL NULL - no_errors TMEM74B HGNC ENSG00000125895 55 0 0 46 10 17.8571 NSFL1C 0 genome.wustl.edu 37 20 1424297 1424297 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 1424297 1424297 C T SNP NSFL1C ENST00000461211 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NSFL1C HGNC ENSG00000088833 23 0 0 14 5 26.3158 KIF16B 0 genome.wustl.edu 37 20 16348114 16348114 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 16348114 16348114 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.3856 p.R1286C 0.010 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 242 0 0 162 38 19 KIF16B 0 genome.wustl.edu 37 20 16359926 16359926 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 16359926 16359926 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known silent c.2721 p.R907 0.984 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 246 0 0 154 34 18.0851 SNORD17 0 genome.wustl.edu 37 20 17943357 17943357 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 17943357 17943357 T C SNP SNORD17 ENST00000390930 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD17 HGNC ENSG00000212232 163 0 0 100 30 23.0769 CSRP2BP 0 genome.wustl.edu 37 20 18167991 18167991 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 18167991 18167991 A G SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known missense c.2237 p.Y746C 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 318 3 0.934579 215 52 19.4757 ZNF133 0 genome.wustl.edu 37 20 18296188 18296188 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 18296188 18296188 T C SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known silent c.702 p.S234 0.946 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 127 0 0 77 16 17.2043 SEC23B 0 genome.wustl.edu 37 20 18513351 18513351 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 18513351 18513351 T C SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1277 p.V426A 0.980 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 181 0 0 135 8 5.59441 SEC23B 0 genome.wustl.edu 37 20 18523751 18523751 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 18523751 18523751 T C SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1600 p.F534L 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 204 1 0.487805 145 35 19.4444 SIRPA 0 genome.wustl.edu 37 20 1915403 1915403 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 1915403 1915403 A G SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known silent c.1269 p.V423 1.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 186 0 0 134 14 9.45946 CRNKL1 0 genome.wustl.edu 37 20 20020405 20020405 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 20020405 20020405 G A SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1876 p.R626W 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 293 0 0 178 49 21.5859 C20orf26 0 genome.wustl.edu 37 20 20144857 20144857 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 20144857 20144857 A G SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1190 p.E397G 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 214 0 0 138 9 6.12245 C20orf26 0 genome.wustl.edu 37 20 20226821 20226821 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 20226821 20226821 A G SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2121 p.K707 0.174 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 177 0 0 140 14 9.09091 PLK1S1 0 genome.wustl.edu 37 20 21143065 21143065 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 21143065 21143065 T C SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 0.504 - - - no_errors PLK1S1 HGNC ENSG00000088970 55 0 0 31 8 20.5128 FOXA2 0 genome.wustl.edu 37 20 22563595 22563595 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 22563595 22563595 G A SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known silent c.285 p.G95 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 15 0 0 5 6 54.5455 NXT1 0 genome.wustl.edu 37 20 23334997 23334997 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 23334997 23334997 C T SNP NXT1 ENST00000254998 human ensembl 74_37 +1 known missense c.319 p.R107W 0.996 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT1 HGNC ENSG00000132661 177 0 0 114 27 19.1489 ACSS1 0 genome.wustl.edu 37 20 25003605 25003605 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 25003605 25003605 A G SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.931 p.Y311H 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 51 0 0 35 14 28.5714 ABHD12 0 genome.wustl.edu 37 20 25290206 25290206 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 25290206 25290206 C T SNP ABHD12 ENST00000376542 human ensembl 74_37 -1 known missense c.625 p.G209S 1.000 pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 - no_errors ABHD12 HGNC ENSG00000100997 108 0 0 70 12 14.6341 TMC2 0 genome.wustl.edu 37 20 2593880 2593880 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 2593880 2593880 A G SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.1784 p.Y595C 0.990 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 110 0 0 75 12 13.7931 TMC2 0 genome.wustl.edu 37 20 2597830 2597830 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 2597830 2597830 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2053 p.V685M 1.000 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 149 0 0 90 23 20.354 CPXM1 0 genome.wustl.edu 37 20 2776643 2776643 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 2776643 2776643 G A SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known silent c.1407 p.T469 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 132 0 0 139 8 5.44218 VPS16 0 genome.wustl.edu 37 20 2841438 2841438 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 2841438 2841438 C T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known nonsense c.559 p.R187* 1.000 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 108 0 0 68 17 20 HCK 0 genome.wustl.edu 37 20 30671779 30671779 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 30671779 30671779 C T SNP HCK ENST00000375852 human ensembl 74_37 +1 known silent c.615 p.N205 0.016 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 170 0 0 110 20 15.3846 PLAGL2 0 genome.wustl.edu 37 20 30785129 30785129 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 30785129 30785129 A G SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known missense c.617 p.V206A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 16 0 0 10 4 28.5714 KIF3B 0 genome.wustl.edu 37 20 30898349 30898349 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 30898349 30898349 G A SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.769 p.A257T 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 93 0 0 48 11 18.6441 ASXL1 0 genome.wustl.edu 37 20 31022395 31022395 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31022395 31022395 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.1880 p.A627V 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 29 0 0 13 9 40.9091 FASTKD5 0 genome.wustl.edu 37 20 3127441 3127441 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 3127441 3127441 A G SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known missense c.2276 p.V759A 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 351 0 0 200 42 17.3554 FASTKD5 0 genome.wustl.edu 37 20 3127511 3127511 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 3127511 3127511 A G SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known missense c.2206 p.S736P 0.005 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 188 0 0 127 24 15.894 DNMT3B 0 genome.wustl.edu 37 20 31372648 31372648 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31372648 31372648 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.289 p.R97C 0.734 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 75 0 0 47 12 20.339 SUN5 0 genome.wustl.edu 37 20 31577472 31577472 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31577472 31577472 T C SNP SUN5 ENST00000356173 human ensembl 74_37 -1 known missense c.567 p.I189M 0.796 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 79 0 0 50 15 23.0769 BPIFB4 0 genome.wustl.edu 37 20 31672763 31672763 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31672763 31672763 A G SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.743 p.Y248C 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 25 0 0 15 8 34.7826 SNTA1 0 genome.wustl.edu 37 20 32005722 32005722 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 32005722 32005722 A G SNP SNTA1 ENST00000217381 human ensembl 74_37 -1 known silent c.504 p.Y168 1.000 superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 104 0 0 78 18 18.75 C20orf194 0 genome.wustl.edu 37 20 3233240 3233240 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 3233240 3233240 T C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.3512 p.D1171G 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 285 2 0.696864 186 39 17.3333 NCOA6 0 genome.wustl.edu 37 20 33330967 33330967 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 33330967 33330967 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.3093 p.Q1031 0.470 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 122 0 0 103 28 21.374 EIF6 0 genome.wustl.edu 37 20 33872297 33872297 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 33872297 33872297 T C SNP EIF6 ENST00000374450 human ensembl 74_37 -1 known splice_site c.1-2 e1-2 0.032 - - - no_errors EIF6 HGNC ENSG00000242372 123 1 0.806452 98 31 24.031 FAM83C 0 genome.wustl.edu 37 20 33874637 33874637 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 33874637 33874637 G A SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.1945 p.P649S 0.990 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 67 0 0 39 23 37.0968 ERGIC3 0 genome.wustl.edu 37 20 34130736 34130736 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 34130736 34130736 A G SNP ERGIC3 ENST00000486268 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ERGIC3 HGNC ENSG00000125991 46 0 0 25 9 26.4706 PHF20 0 genome.wustl.edu 37 20 34526819 34526819 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 34526819 34526819 A G SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2501 p.Y834C 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 75 0 0 55 12 17.9104 CNBD2 0 genome.wustl.edu 37 20 34618478 34618478 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 34618478 34618478 A G SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.1639 p.I547V 0.860 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 564 0 0 347 89 20.4128 EPB41L1 0 genome.wustl.edu 37 20 34773147 34773147 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 34773147 34773147 T C SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known silent c.675 p.G225 0.030 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 101 1 0.980392 65 26 28.5714 DLGAP4 0 genome.wustl.edu 37 20 35060838 35060838 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 35060838 35060838 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.718 p.R240C 0.993 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 136 0 0 85 21 19.8113 DLGAP4 0 genome.wustl.edu 37 20 35125161 35125161 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 35125161 35125161 A G SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1702 p.T568A 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 131 0 0 93 18 16.2162 RBL1 0 genome.wustl.edu 37 20 35661170 35661170 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 35661170 35661170 A G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known silent c.2280 p.G760 0.170 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 488 0 0 317 81 20.3518 GHRH 0 genome.wustl.edu 37 20 35882611 35882611 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 35882611 35882611 A G SNP GHRH ENST00000237527 human ensembl 74_37 -1 known splice_site c.308+2 e3+2 0.749 - - - no_errors GHRH HGNC ENSG00000118702 280 0 0 195 57 22.619 RPRD1B 0 genome.wustl.edu 37 20 36668870 36668870 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 36668870 36668870 T A SNP RPRD1B ENST00000373433 human ensembl 74_37 +1 known nonsense c.185 p.L62* 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1B HGNC ENSG00000101413 220 0 0 132 37 21.8935 SLC32A1 0 genome.wustl.edu 37 20 37357038 37357038 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 37357038 37357038 T G SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1334 p.L445R 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 70 0 0 52 11 17.4603 PPP1R16B 0 genome.wustl.edu 37 20 37531369 37531369 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 37531369 37531369 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known silent c.630 p.A210 0.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 159 0 0 119 30 20.1342 CENPB 0 genome.wustl.edu 37 20 3766398 3766398 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 3766398 3766398 C T SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.733 p.G245S 0.924 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 8 0 0 20 6 23.0769 LPIN3 0 genome.wustl.edu 37 20 39976200 39976200 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 39976200 39976200 T C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known silent c.201 p.I67 0.942 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 64 0 0 55 11 16.6667 CHD6 0 genome.wustl.edu 37 20 40044014 40044014 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 40044014 40044014 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6751 p.A2251T 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 39 0 0 26 17 39.5349 PTPRT 0 genome.wustl.edu 37 20 40747089 40747089 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 40747089 40747089 T C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2993 p.N998S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 114 0 0 58 20 25.641 L3MBTL1 0 genome.wustl.edu 37 20 42169672 42169672 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 42169672 42169672 A G SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.2427 p.G809 0.025 superfamily_SAM/pointed pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 183 0 0 130 30 18.75 SGK2 0 genome.wustl.edu 37 20 42203604 42203604 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 42203604 42203604 G T SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known missense c.833 p.W278L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 83 0 0 45 4 8.16327 MYBL2 0 genome.wustl.edu 37 20 42315583 42315583 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 42315583 42315583 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.371 p.R124H 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 56 0 0 43 10 18.8679 GTSF1L 0 genome.wustl.edu 37 20 42355289 42355289 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 42355289 42355289 G A SNP GTSF1L ENST00000373003 human ensembl 74_37 -1 known nonsense c.46 p.R16* 0.995 pfam_TRM13/UPF0224_CHHC_Znf_dom pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors GTSF1L HGNC ENSG00000124196 314 0 0 198 31 13.5371 TTPAL 0 genome.wustl.edu 37 20 43109032 43109032 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 43109032 43109032 C T SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known silent c.393 p.T131 0.003 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 218 0 0 159 40 20.1005 ADA 0 genome.wustl.edu 37 20 43257798 43257798 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 43257798 43257798 G A SNP ADA ENST00000372874 human ensembl 74_37 -1 known silent c.108 p.I36 0.838 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 73 0 0 48 17 26.1538 ZNF335 0 genome.wustl.edu 37 20 44578447 44578447 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 44578447 44578447 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.3661 p.D1221N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 104 0 0 65 25 27.7778 SULF2 0 genome.wustl.edu 37 20 46295229 46295229 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 46295229 46295229 T C SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.1580 p.Y527C 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 114 0 0 77 16 17.2043 ZNFX1 0 genome.wustl.edu 37 20 47868143 47868143 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 47868143 47868143 T G SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.3233 p.E1078A 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 83 0 0 52 23 30.6667 ZNFX1 0 genome.wustl.edu 37 20 47887946 47887946 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 47887946 47887946 T C SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.403 p.T135A 0.005 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 309 0 0 216 47 17.8707 B4GALT5 0 genome.wustl.edu 37 20 48256242 48256242 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 48256242 48256242 C T SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.890 p.G297D 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 293 0 0 191 44 18.7234 SLC23A2 0 genome.wustl.edu 37 20 4880213 4880213 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 4880213 4880213 G A SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.470 p.T157M 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 472 1 0.211416 270 84 23.7288 PTPN1 0 genome.wustl.edu 37 20 49184937 49184937 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49184937 49184937 C T SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known silent c.276 p.C92 0.694 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 153 0 0 124 22 15.0685 FAM65C 0 genome.wustl.edu 37 20 49247292 49247292 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49247292 49247292 T C SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.105 p.A35 0.088 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 19 0 0 13 4 23.5294 PARD6B 0 genome.wustl.edu 37 20 49366647 49366647 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49366647 49366647 A G SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known silent c.741 p.R247 0.729 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 285 0 0 168 43 20.3791 ADNP 0 genome.wustl.edu 37 20 49509799 49509799 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49509799 49509799 T C SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.1452 p.I484M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 695 1 0.143678 442 115 20.6463 ADNP 0 genome.wustl.edu 37 20 49520468 49520468 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49520468 49520468 T A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known silent c.66 p.I22 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 127 0 0 76 16 17.3913 KCNG1 0 genome.wustl.edu 37 20 49626525 49626525 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49626525 49626525 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.351 p.F117 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 58 0 0 47 13 21.6667 NFATC2 0 genome.wustl.edu 37 20 50140511 50140511 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 50140511 50140511 T C SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.269 p.D90G 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 86 0 0 63 19 23.1707 ZFP64 0 genome.wustl.edu 37 20 50705146 50705146 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 50705146 50705146 C T SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1013 p.C338Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 264 0 0 194 38 16.3793 ZFP64 0 genome.wustl.edu 37 20 50769089 50769089 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 50769089 50769089 G A SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known silent c.1642 p.L548 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 64 0 0 34 4 10.5263 PCNA 0 genome.wustl.edu 37 20 5096170 5096170 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 5096170 5096170 A G SNP PCNA ENST00000379143 human ensembl 74_37 -1 known missense c.631 p.Y211H 1.000 pfam_Pr_cel_nuc_antig_C,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig pfam_Pr_cel_nuc_antig_C,pfam_Pr_cel_nuc_antig_N,pfam_Rad9/Ddc1,prints_Pr_cel_nuc_antig,tigrfam_Pr_cel_nuc_antig - no_errors PCNA HGNC ENSG00000132646 208 0 0 194 31 13.7778 TSHZ2 0 genome.wustl.edu 37 20 51870983 51870983 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 51870983 51870983 G T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.986 p.R329L 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 235 0 0 155 43 21.7172 ZNF217 0 genome.wustl.edu 37 20 52192756 52192756 + Silent SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 52192756 52192756 A C SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.2547 p.P849 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 257 1 0.387597 147 30 16.9492 BMP7 0 genome.wustl.edu 37 20 55758796 55758796 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 55758796 55758796 G A SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.940 p.R314W 0.982 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 137 0 0 77 20 20.6186 SPO11 0 genome.wustl.edu 37 20 55913380 55913380 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 55913380 55913380 T C SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.793 p.W265R 1.000 superfamily_Spo11/TopoVI_A,prints_Spo11/TopoVI_A,prints_TopoVI_A pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 152 0 0 83 20 19.4175 RBM38 0 genome.wustl.edu 37 20 55982823 55982823 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 55982823 55982823 C T SNP RBM38 ENST00000356208 human ensembl 74_37 +1 known missense c.641 p.A214V 0.005 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM38 HGNC ENSG00000132819 13 0 0 10 2 16.6667 GNAS 0 genome.wustl.edu 37 20 57485796 57485796 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 57485796 57485796 C A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.1100 p.A367D 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 65 0 0 48 11 18.6441 NELFCD 0 genome.wustl.edu 37 20 57561870 57561870 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 57561870 57561870 G A SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.292 p.A98T 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 293 1 0.340136 182 58 24.1667 NELFCD 0 genome.wustl.edu 37 20 57565009 57565009 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 57565009 57565009 A T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.808 p.I270F 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 78 0 0 65 13 16.6667 NELFCD 0 genome.wustl.edu 37 20 57568057 57568057 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 57568057 57568057 C G SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.1288 p.P430A 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 86 0 0 44 17 27.8689 PHACTR3 0 genome.wustl.edu 37 20 58330282 58330282 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 58330282 58330282 T C SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.404 p.V135A 0.010 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 54 0 0 35 11 23.913 CDH4 0 genome.wustl.edu 37 20 60509183 60509183 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 60509183 60509183 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2449 p.R817C 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 67 0 0 47 13 21.6667 FERMT1 0 genome.wustl.edu 37 20 6057833 6057833 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 6057833 6057833 C A SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.2021 p.G674V 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 177 0 0 123 20 13.986 FERMT1 0 genome.wustl.edu 37 20 6057917 6057917 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 6057917 6057917 T C SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.1937 p.Y646C 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 126 0 0 72 21 22.5806 PSMA7 0 genome.wustl.edu 37 20 60714246 60714246 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 60714246 60714246 G A SNP PSMA7 ENST00000370873 human ensembl 74_37 -1 known missense c.356 p.T119M 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA7 HGNC ENSG00000101182 107 0 0 64 15 18.9873 LAMA5 0 genome.wustl.edu 37 20 60885488 60885488 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 60885488 60885488 T C SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.10587 p.G3529 0.001 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 37 0 0 38 7 15.5556 LAMA5 0 genome.wustl.edu 37 20 60890201 60890201 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 60890201 60890201 T C SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7930 p.T2644A 0.000 pfam_Laminin_II pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 33 0 0 21 4 16 NTSR1 0 genome.wustl.edu 37 20 61341218 61341218 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 61341218 61341218 G A SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known missense c.659 p.G220D 0.018 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 41 0 0 28 7 20 DIDO1 0 genome.wustl.edu 37 20 61525226 61525226 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 61525226 61525226 C A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.2893 p.G965C 0.999 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 91 0 0 75 32 29.9065 PTK6 0 genome.wustl.edu 37 20 62163998 62163998 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 62163998 62163998 G T SNP PTK6 ENST00000217185 human ensembl 74_37 -1 known missense c.713 p.A238D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 79 0 0 49 12 19.6721 HELZ2 0 genome.wustl.edu 37 20 62200870 62200870 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 62200870 62200870 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.719 p.R240H 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 10 0 0 13 10 43.4783 GMEB2 0 genome.wustl.edu 37 20 62250679 62250679 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 62250679 62250679 G A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known silent c.72 p.D24 0.297 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 53 0 0 57 16 21.9178 ZGPAT 0 genome.wustl.edu 37 20 62367194 62367194 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 62367194 62367194 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known nonsense c.1519 p.Q507* 1.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 22 0 0 12 3 20 PCMTD2 0 genome.wustl.edu 37 20 62904640 62904640 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 62904640 62904640 T C SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.773 p.I258T 0.045 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 127 0 0 89 25 21.9298 BMP2 0 genome.wustl.edu 37 20 6759620 6759620 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 6759620 6759620 G C SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known missense c.1075 p.A359P 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 111 0 0 85 14 14.1414 HAO1 0 genome.wustl.edu 37 20 7894828 7894828 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 7894828 7894828 T C SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known silent c.528 p.K176 0.997 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 81 0 0 56 21 27.2727 RSPO4 0 genome.wustl.edu 37 20 948715 948715 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 948715 948715 G A SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.146 p.T49I 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 69 0 0 60 4 6.25 TPTE 0 genome.wustl.edu 37 21 10916386 10916386 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 10916386 10916386 A G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.1260 p.I420 0.006 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 239 1 0.416667 198 17 7.90698 TPTE 0 genome.wustl.edu 37 21 10971316 10971316 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 10971316 10971316 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.41 p.I14S 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 83 0 0 57 5 8.06452 HSPA13 0 genome.wustl.edu 37 21 15746385 15746385 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 15746385 15746385 A G SNP HSPA13 ENST00000285667 human ensembl 74_37 -1 known silent c.969 p.S323 0.006 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC ENSG00000155304 136 0 0 90 22 19.6429 USP25 0 genome.wustl.edu 37 21 17191087 17191087 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 17191087 17191087 T C SNP USP25 ENST00000400183 human ensembl 74_37 +1 known silent c.1002 p.H334 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 277 0 0 192 39 16.8831 TMPRSS15 0 genome.wustl.edu 37 21 19666595 19666595 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 19666595 19666595 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.2478 p.C826 0.385 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 79 0 0 79 16 16.8421 GABPA 0 genome.wustl.edu 37 21 27136558 27136558 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 27136558 27136558 A G SNP GABPA ENST00000354828 human ensembl 74_37 +1 known silent c.840 p.T280 0.929 pirsf_TF_GA-bd_asu pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom - no_errors GABPA HGNC ENSG00000154727 135 0 0 93 14 13.0841 CYYR1 0 genome.wustl.edu 37 21 27938613 27938613 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 27938613 27938613 A T SNP CYYR1 ENST00000435845 human ensembl 74_37 -1 known missense c.472 p.Y158N 1.000 pfam_CYYR1 pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 71 0 0 43 7 14 ADAMTS5 0 genome.wustl.edu 37 21 28315800 28315800 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 28315800 28315800 T C SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1304 p.D435G 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 65 0 0 41 9 18 ADAMTS5 0 genome.wustl.edu 37 21 28338270 28338270 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 28338270 28338270 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.441 p.D147 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 23 0 0 20 9 31.0345 RWDD2B 0 genome.wustl.edu 37 21 30380115 30380115 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 30380115 30380115 C T SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.692 p.G231D 1.000 pfam_DUF1115,pirsf_UCP038021_RWD pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 191 0 0 134 34 20.2381 RWDD2B 0 genome.wustl.edu 37 21 30380209 30380209 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 30380209 30380209 T C SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.598 p.K200E 1.000 pfam_DUF1115,pirsf_UCP038021_RWD pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 234 0 0 179 42 19.0045 BACH1 0 genome.wustl.edu 37 21 30693734 30693734 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 30693734 30693734 T C SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.133 p.F45L 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 200 0 0 156 10 6.0241 KRTAP24-1 0 genome.wustl.edu 37 21 31654914 31654914 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 31654914 31654914 T A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.337 p.S113C 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 124 0 0 88 19 17.757 KRTAP21-2 0 genome.wustl.edu 37 21 32119274 32119274 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 32119274 32119274 A G SNP KRTAP21-2 ENST00000333892 human ensembl 74_37 -1 known missense c.247 p.Y83H 0.996 NULL pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP21-2 HGNC ENSG00000187026 267 0 0 183 35 16.055 SCAF4 0 genome.wustl.edu 37 21 33057462 33057462 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 33057462 33057462 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.2388 p.A796 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 163 0 0 98 26 20.9677 HUNK 0 genome.wustl.edu 37 21 33346910 33346910 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 33346910 33346910 A G SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.1054 p.T352A 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 159 1 0.625 117 33 22 MRAP 0 genome.wustl.edu 37 21 33686877 33686877 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 33686877 33686877 A G SNP MRAP ENST00000339944 human ensembl 74_37 +1 known silent c.222 p.E74 0.000 NULL NULL - no_errors MRAP HGNC ENSG00000170262 105 0 0 95 24 20.1681 C21orf59 0 genome.wustl.edu 37 21 33976433 33976433 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 33976433 33976433 A G SNP C21orf59 ENST00000290155 human ensembl 74_37 -1 known splice_site c.534+2 e4+2 1.000 - - - no_errors C21orf59 HGNC ENSG00000159079 135 0 0 89 27 23.2759 GART 0 genome.wustl.edu 37 21 34876757 34876757 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 34876757 34876757 C T SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.2803 p.G935R 0.995 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 197 0 0 159 34 17.6166 SON 0 genome.wustl.edu 37 21 34922190 34922190 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 34922190 34922190 C A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.653 p.S218Y 0.655 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 239 0 0 181 72 28.4585 SON 0 genome.wustl.edu 37 21 34927628 34927628 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 34927628 34927628 T C SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.6091 p.S2031P 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 158 0 0 101 17 14.4068 MRPS6 0 genome.wustl.edu 37 21 35497669 35497669 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 35497669 35497669 C T SNP MRPS6 ENST00000399312 human ensembl 74_37 +1 known missense c.74 p.T25M 0.405 pfam_Ribosomal_S6,superfamily_Ribosomal_S6,tigrfam_Ribosomal_S6 pfam_Ribosomal_S6,superfamily_Ribosomal_S6,tigrfam_Ribosomal_S6 - no_errors MRPS6 HGNC ENSG00000243927 290 0 0 186 37 16.5919 CBR3 0 genome.wustl.edu 37 21 37507591 37507591 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 37507591 37507591 T C SNP CBR3 ENST00000290354 human ensembl 74_37 +1 known missense c.101 p.V34A 0.999 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 12 0 0 16 3 15.7895 TTC3 0 genome.wustl.edu 37 21 38538528 38538528 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 38538528 38538528 G A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.4012 p.V1338M 0.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 329 1 0.30303 238 48 16.7832 TTC3 0 genome.wustl.edu 37 21 38538886 38538886 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 38538886 38538886 A G SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.4370 p.N1457S 0.001 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 89 0 0 71 12 14.4578 DSCR3 0 genome.wustl.edu 37 21 38597828 38597828 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 38597828 38597828 T C SNP DSCR3 ENST00000399000 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DSCR3 HGNC ENSG00000157538 51 0 0 42 7 14.2857 DYRK1A 0 genome.wustl.edu 37 21 38862610 38862610 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 38862610 38862610 G A SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known silent c.798 p.A266 0.975 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 166 0 0 134 39 22.5434 KCNJ15 0 genome.wustl.edu 37 21 39671704 39671704 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 39671704 39671704 G A SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.521 p.R174Q 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 100 0 0 93 19 16.9643 BRWD1 0 genome.wustl.edu 37 21 40578152 40578152 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 40578152 40578152 T C SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.4246 p.K1416E 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 172 0 0 120 37 23.5669 DSCAM 0 genome.wustl.edu 37 21 41457677 41457677 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 41457677 41457677 A G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.3984 p.S1328 0.981 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 161 0 0 94 23 19.6581 FAM3B 0 genome.wustl.edu 37 21 42710359 42710359 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 42710359 42710359 C G SNP FAM3B ENST00000357985 human ensembl 74_37 +1 known missense c.218 p.T73S 0.995 NULL NULL - no_errors FAM3B HGNC ENSG00000183844 195 0 0 131 26 16.5605 MX2 0 genome.wustl.edu 37 21 42780121 42780121 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 42780121 42780121 A G SNP MX2 ENST00000330714 human ensembl 74_37 +1 known silent c.2109 p.R703 0.000 pfam_GED,superfamily_P-loop_NTPase,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 113 0 0 84 10 10.6383 RIPK4 0 genome.wustl.edu 37 21 43161503 43161503 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 43161503 43161503 T C SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1994 p.Y665C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 102 1 0.970874 99 19 16.1017 RIPK4 0 genome.wustl.edu 37 21 43169342 43169342 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 43169342 43169342 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known silent c.645 p.G215 0.171 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 61 0 0 28 7 20 SIK1 0 genome.wustl.edu 37 21 44840207 44840207 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 44840207 44840207 G A SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known silent c.879 p.S293 0.000 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 35 0 0 26 9 25.7143 HSF2BP 0 genome.wustl.edu 37 21 45050308 45050308 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45050308 45050308 T C SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.469 p.T157A 0.970 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 99 0 0 75 13 14.7727 PDXK 0 genome.wustl.edu 37 21 45163690 45163690 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45163690 45163690 T C SNP PDXK ENST00000291565 human ensembl 74_37 +1 known splice_site c.331+2 e4+2 1.000 - - - no_errors PDXK HGNC ENSG00000160209 34 0 0 19 4 17.3913 TRAPPC10 0 genome.wustl.edu 37 21 45509730 45509730 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45509730 45509730 C T SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.2786 p.P929L 1.000 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 58 0 0 41 6 12.766 PFKL 0 genome.wustl.edu 37 21 45725738 45725738 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45725738 45725738 C A SNP PFKL ENST00000403390 human ensembl 74_37 +1 known missense c.146 p.P49H 0.000 pirsf_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 29 0 0 27 4 12.9032 TSPEAR 0 genome.wustl.edu 37 21 45941907 45941907 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45941907 45941907 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.1425 p.G475 0.868 NULL pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 261 0 0 197 55 21.8254 KRTAP10-3 0 genome.wustl.edu 37 21 45978566 45978566 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45978566 45978566 G A SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known silent c.33 p.S11 0.200 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 65 0 0 36 14 28 UBE2G2 0 genome.wustl.edu 37 21 46208000 46208000 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 46208000 46208000 C T SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known silent c.54 p.L18 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2G2 HGNC ENSG00000184787 118 0 0 73 19 20.6522 ITGB2 0 genome.wustl.edu 37 21 46323290 46323290 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 46323290 46323290 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.489 p.S163 0.071 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 109 0 0 84 20 19.2308 ITGB2 0 genome.wustl.edu 37 21 46323305 46323305 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 46323305 46323305 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.474 p.N158 0.121 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 117 0 0 97 19 16.3793 ITGB2 0 genome.wustl.edu 37 21 46323369 46323369 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 46323369 46323369 T C SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.410 p.Y137C 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 107 0 0 75 26 25.7426 COL6A2 0 genome.wustl.edu 37 21 47546134 47546134 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 47546134 47546134 A G SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2405 p.E802G 0.997 pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 255 0 0 181 54 22.9787 MCM3AP 0 genome.wustl.edu 37 21 47676879 47676879 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 47676879 47676879 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.3756 p.A1252 0.998 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 23 0 0 24 6 20 MCM3AP 0 genome.wustl.edu 37 21 47704983 47704983 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 47704983 47704983 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.218 p.L73S 0.009 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 99 0 0 84 17 16.8317 PCNT 0 genome.wustl.edu 37 21 47786508 47786508 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 47786508 47786508 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.2619 p.E873D 0.998 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 96 0 0 86 21 19.6262 PCNT 0 genome.wustl.edu 37 21 47822252 47822252 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 47822252 47822252 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.4970 p.D1657G 0.886 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 90 0 0 56 18 24.3243 POTEH 0 genome.wustl.edu 37 22 16279249 16279249 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 16279249 16279249 A G SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.974 p.V325A 0.957 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 679 0 0 526 30 5.39568 IL17RA 0 genome.wustl.edu 37 22 17590314 17590314 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 17590314 17590314 G A SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.2205 p.A735 0.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 44 0 0 29 6 17.1429 CECR5 0 genome.wustl.edu 37 22 17619200 17619200 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 17619200 17619200 T C SNP CECR5 ENST00000336737 human ensembl 74_37 -1 known missense c.983 p.Y328C 1.000 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 67 0 0 49 9 15.5172 CECR1 0 genome.wustl.edu 37 22 17670900 17670900 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 17670900 17670900 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.904 p.A302T 0.001 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 51 0 0 34 11 24.4444 CECR1 0 genome.wustl.edu 37 22 17684503 17684503 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 17684503 17684503 A G SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.703 p.F235L 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 68 0 0 50 4 7.40741 SLC25A18 0 genome.wustl.edu 37 22 18070770 18070770 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 18070770 18070770 G A SNP SLC25A18 ENST00000327451 human ensembl 74_37 +1 known missense c.655 p.A219T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A18 HGNC ENSG00000182902 140 0 0 100 41 29.078 TUBA8 0 genome.wustl.edu 37 22 18613870 18613870 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 18613870 18613870 G A SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known silent c.1317 p.S439 0.176 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 141 0 0 85 19 18.2692 USP18 0 genome.wustl.edu 37 22 18644674 18644674 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 18644674 18644674 C A SNP USP18 ENST00000215794 human ensembl 74_37 +1 known silent c.372 p.A124 0.023 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP18 HGNC ENSG00000184979 70 0 0 52 6 10.3448 DGCR6 0 genome.wustl.edu 37 22 18898483 18898483 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 18898483 18898483 A G SNP DGCR6 ENST00000331444 human ensembl 74_37 +1 known missense c.455 p.Q152R 1.000 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 17 0 0 18 7 28 DGCR2 0 genome.wustl.edu 37 22 19028790 19028790 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 19028790 19028790 C T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.1177 p.G393S 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 58 0 0 34 10 22.7273 CDC45 0 genome.wustl.edu 37 22 19470330 19470330 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 19470330 19470330 A G SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known missense c.322 p.N108D 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 512 0 0 356 115 24.4161 COMT 0 genome.wustl.edu 37 22 19950294 19950294 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 19950294 19950294 A G SNP COMT ENST00000361682 human ensembl 74_37 +1 known missense c.245 p.Y82C 1.000 pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 78 0 0 51 13 20.3125 TANGO2 0 genome.wustl.edu 37 22 20024561 20024561 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 20024561 20024561 G A SNP TANGO2 ENST00000456048 human ensembl 74_37 +1 known silent c.15 p.A5 0.000 NULL pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 90 0 0 63 13 17.1053 ZDHHC8 0 genome.wustl.edu 37 22 20127090 20127090 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 20127090 20127090 T C SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.316 p.C106R 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 67 0 0 50 15 23.0769 DGCR6L 0 genome.wustl.edu 37 22 20303653 20303653 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 20303653 20303653 G A SNP DGCR6L ENST00000248879 human ensembl 74_37 -1 known nonsense c.361 p.R121* 0.987 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6L HGNC ENSG00000128185 18 0 0 11 4 26.6667 ZNF74 0 genome.wustl.edu 37 22 20760494 20760494 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 20760494 20760494 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.1171 p.G391S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 59 0 0 40 18 31.0345 MED15 0 genome.wustl.edu 37 22 20891434 20891434 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 20891434 20891434 A G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.99 p.A33 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 82 0 0 67 10 12.987 MED15 0 genome.wustl.edu 37 22 20929471 20929471 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 20929471 20929471 C T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.1224 p.S408 0.161 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 126 0 0 96 27 21.9512 PI4KA 0 genome.wustl.edu 37 22 21062346 21062346 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21062346 21062346 T C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.6298 p.I2100V 1.000 superfamily_Kinase-like_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 232 0 0 170 40 19.0476 LZTR1 0 genome.wustl.edu 37 22 21350351 21350351 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21350351 21350351 G A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.2169 p.M723I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 97 0 0 72 21 22.5806 HIC2 0 genome.wustl.edu 37 22 21799230 21799230 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21799230 21799230 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.46 p.R16C 0.937 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 54 0 0 46 4 8 HIC2 0 genome.wustl.edu 37 22 21799327 21799327 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21799327 21799327 T C SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.143 p.V48A 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 99 0 0 72 8 10 HIC2 0 genome.wustl.edu 37 22 21800502 21800502 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21800502 21800502 A G SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1318 p.N440D 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 157 0 0 102 21 17.0732 UBE2L3 0 genome.wustl.edu 37 22 21947247 21947247 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21947247 21947247 T C SNP UBE2L3 ENST00000458578 human ensembl 74_37 +1 known splice_site c.297+2 e2+2 1.000 - - - no_errors UBE2L3 HGNC ENSG00000185651 87 0 0 88 17 16.1905 CCDC116 0 genome.wustl.edu 37 22 21989105 21989105 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 21989105 21989105 C T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.753 p.G251 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 200 0 0 154 40 20.6186 BMS1P20 0 genome.wustl.edu 37 22 22661562 22661562 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 22661562 22661562 T C SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 102 0 0 71 13 15.4762 GNAZ 0 genome.wustl.edu 37 22 23438406 23438406 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 23438406 23438406 T C SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.524 p.I175T 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 115 0 0 112 18 13.8462 BCR 0 genome.wustl.edu 37 22 23603710 23603710 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 23603710 23603710 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.1735 p.D579N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 91 0 0 64 16 20 CABIN1 0 genome.wustl.edu 37 22 24439497 24439497 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 24439497 24439497 C A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.477 p.P159 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 140 0 0 99 25 20.1613 SUSD2 0 genome.wustl.edu 37 22 24583571 24583571 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 24583571 24583571 T C SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1924 p.Y642H 1.000 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 121 0 0 81 21 20.5882 SGSM1 0 genome.wustl.edu 37 22 25243746 25243746 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 25243746 25243746 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.285 p.E95 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 32 0 0 19 7 26.9231 SEZ6L 0 genome.wustl.edu 37 22 26688424 26688424 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 26688424 26688424 A G SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.147 p.S49 0.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 78 0 0 46 18 28.125 ASPHD2 0 genome.wustl.edu 37 22 26830248 26830248 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 26830248 26830248 A G SNP ASPHD2 ENST00000215906 human ensembl 74_37 +1 known missense c.667 p.T223A 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ENSG00000128203 124 0 0 91 20 18.018 SRRD 0 genome.wustl.edu 37 22 26886097 26886097 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 26886097 26886097 A G SNP SRRD ENST00000215917 human ensembl 74_37 +1 known missense c.697 p.N233D 0.998 NULL pfam_SRR1-like - no_errors SRRD HGNC ENSG00000100104 169 0 0 105 25 19.2308 TFIP11 0 genome.wustl.edu 37 22 26899657 26899657 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 26899657 26899657 A G SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.623 p.V208A 0.938 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 182 0 0 127 21 14.1892 TPST2 0 genome.wustl.edu 37 22 26936888 26936888 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 26936888 26936888 A G SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known missense c.709 p.Y237H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 99 0 0 74 15 16.8539 CRYBA4 0 genome.wustl.edu 37 22 27024321 27024321 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 27024321 27024321 G A SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known missense c.370 p.D124N 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 139 0 0 89 30 25.2101 ZNRF3 0 genome.wustl.edu 37 22 29444383 29444383 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 29444383 29444383 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.919 p.R307W 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 66 0 0 66 20 23.2558 KREMEN1 0 genome.wustl.edu 37 22 29533411 29533411 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 29533411 29533411 C T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.713 p.T238M 0.653 pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 165 0 0 115 37 24.3421 EWSR1 0 genome.wustl.edu 37 22 29696151 29696151 + Nonstop_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 29696151 29696151 G T SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known nonstop c.1986 p.*662Y 0.987 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 173 0 0 135 10 6.89655 GAS2L1 0 genome.wustl.edu 37 22 29708221 29708221 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 29708221 29708221 G A SNP GAS2L1 ENST00000406549 human ensembl 74_37 +1 putative missense c.1100 p.R367Q 0.015 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L1 HGNC ENSG00000185340 89 0 0 58 18 23.6842 AP1B1 0 genome.wustl.edu 37 22 29754783 29754783 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 29754783 29754783 C T SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known missense c.457 p.A153T 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 112 0 0 80 18 18.3673 RFPL1 0 genome.wustl.edu 37 22 29837596 29837596 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 29837596 29837596 G A SNP RFPL1 ENST00000354373 human ensembl 74_37 +1 known missense c.439 p.V147I 0.006 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL1 HGNC ENSG00000128250 236 0 0 148 42 22.1053 NF2 0 genome.wustl.edu 37 22 30064373 30064373 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 30064373 30064373 G T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.937 p.A313S 1.000 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin_like pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 88 0 0 51 10 16.3934 SEC14L3 0 genome.wustl.edu 37 22 30866053 30866053 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 30866053 30866053 G A SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known missense c.187 p.R63W 1.000 superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 219 0 0 178 38 17.5926 PLA2G3 0 genome.wustl.edu 37 22 31536087 31536087 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 31536087 31536087 G A SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.254 p.A85V 0.007 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 105 1 0.943396 55 20 26.6667 LIMK2 0 genome.wustl.edu 37 22 31669457 31669457 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 31669457 31669457 G A SNP LIMK2 ENST00000331728 human ensembl 74_37 +1 known silent c.1578 p.T526 0.005 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 58 0 0 53 20 27.3973 SFI1 0 genome.wustl.edu 37 22 32010791 32010791 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32010791 32010791 G C SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.3013 p.A1005P 0.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 38 0 0 21 7 25 DEPDC5 0 genome.wustl.edu 37 22 32229940 32229940 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32229940 32229940 A G SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2144 p.D715G 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 527 0 0 381 99 20.625 RFPL2 0 genome.wustl.edu 37 22 32586769 32586769 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32586769 32586769 T C SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known missense c.1127 p.E376G 0.001 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 287 1 0.347222 200 51 20.3187 SLC5A4 0 genome.wustl.edu 37 22 32644771 32644771 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32644771 32644771 T C SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.331 p.I111V 0.002 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 148 0 0 126 28 18.1818 SLC5A4 0 genome.wustl.edu 37 22 32650198 32650198 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32650198 32650198 C T SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.138 p.A46 0.303 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 93 0 0 60 14 18.9189 LARGE 0 genome.wustl.edu 37 22 33670584 33670584 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 33670584 33670584 G A SNP LARGE ENST00000354992 human ensembl 74_37 -1 known silent c.2100 p.N700 0.850 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 120 0 0 94 18 16.0714 HMGXB4 0 genome.wustl.edu 37 22 35661177 35661177 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 35661177 35661177 G T SNP HMGXB4 ENST00000216106 human ensembl 74_37 +1 known missense c.796 p.G266C 0.985 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 116 0 0 77 17 18.0851 APOL1 0 genome.wustl.edu 37 22 36661621 36661621 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 36661621 36661621 A G SNP APOL1 ENST00000319136 human ensembl 74_37 +1 known missense c.787 p.S263G 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 127 0 0 94 23 19.6581 CACNG2 0 genome.wustl.edu 37 22 36960849 36960849 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 36960849 36960849 T C SNP CACNG2 ENST00000300105 human ensembl 74_37 -1 known missense c.521 p.Y174C 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin - no_errors CACNG2 HGNC ENSG00000166862 357 0 0 255 72 22.0183 KCTD17 0 genome.wustl.edu 37 22 37457578 37457578 + Splice_Site SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 37457578 37457578 G T SNP KCTD17 ENST00000403888 human ensembl 74_37 +1 known splice_site c.806-1 e8-1 1.000 - - - no_errors KCTD17 HGNC ENSG00000100379 25 0 0 10 6 37.5 RAC2 0 genome.wustl.edu 37 22 37637690 37637690 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 37637690 37637690 C T SNP RAC2 ENST00000249071 human ensembl 74_37 -1 known missense c.44 p.G15D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC2 HGNC ENSG00000128340 128 0 0 69 15 17.8571 SH3BP1 0 genome.wustl.edu 37 22 38046644 38046644 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 38046644 38046644 G A SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known missense c.1510 p.V504M 0.000 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 39 0 0 43 6 12.2449 TRIOBP 0 genome.wustl.edu 37 22 38151115 38151115 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 38151115 38151115 A T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.5495 p.E1832V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 25 0 0 21 5 19.2308 CSNK1E 0 genome.wustl.edu 37 22 38694907 38694907 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 38694907 38694907 A G SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.769 p.S257P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1E HGNC ENSG00000213923 172 0 0 117 27 18.75 KCNJ4 0 genome.wustl.edu 37 22 38823509 38823509 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 38823509 38823509 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.629 p.R210H 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 48 0 0 35 4 10.2564 DDX17 0 genome.wustl.edu 37 22 38897252 38897252 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 38897252 38897252 C T SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known silent c.321 p.P107 0.007 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 106 0 0 79 23 22.549 DMC1 0 genome.wustl.edu 37 22 38962699 38962699 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 38962699 38962699 T C SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known missense c.139 p.T47A 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 109 0 0 109 26 19.2593 APOBEC3D 0 genome.wustl.edu 37 22 39421596 39421596 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 39421596 39421596 T C SNP APOBEC3D ENST00000216099 human ensembl 74_37 +1 known silent c.525 p.N175 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 386 0 0 246 61 19.8697 MGAT3 0 genome.wustl.edu 37 22 39884031 39884031 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 39884031 39884031 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.679 p.E227K 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 30 0 0 32 8 20 RPS19BP1 0 genome.wustl.edu 37 22 39925608 39925608 + Silent SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 39925608 39925608 G C SNP RPS19BP1 ENST00000334678 human ensembl 74_37 -1 known silent c.300 p.G100 0.977 prints_Active_regulator_of_SIRT1 prints_Active_regulator_of_SIRT1 - no_errors RPS19BP1 HGNC ENSG00000187051 102 0 0 79 25 24.0385 CACNA1I 0 genome.wustl.edu 37 22 40043875 40043875 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 40043875 40043875 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.1511 p.R504Q 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 60 0 0 55 14 20.2899 CACNA1I 0 genome.wustl.edu 37 22 40064365 40064365 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 40064365 40064365 T C SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.4191 p.D1397 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 41 0 0 33 6 15.3846 ADSL 0 genome.wustl.edu 37 22 40754911 40754911 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 40754911 40754911 A G SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.568 p.I190V 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 194 0 0 162 32 16.4948 MKL1 0 genome.wustl.edu 37 22 40814987 40814987 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 40814987 40814987 C T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.1455 p.T485 0.572 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 28 0 0 22 6 21.4286 EP300 0 genome.wustl.edu 37 22 41573174 41573174 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 41573174 41573174 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.5459 p.H1820R 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 88 0 0 70 17 19.5402 EP300 0 genome.wustl.edu 37 22 41574435 41574435 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 41574435 41574435 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.6720 p.G2240 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 80 0 0 58 17 22.6667 L3MBTL2 0 genome.wustl.edu 37 22 41625571 41625571 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 41625571 41625571 G A SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known missense c.1916 p.R639Q 1.000 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 73 0 0 46 18 28.125 ZC3H7B 0 genome.wustl.edu 37 22 41738587 41738587 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 41738587 41738587 A G SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.1252 p.T418A 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 67 0 0 42 4 8.69565 TOB2 0 genome.wustl.edu 37 22 41832509 41832509 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 41832509 41832509 C T SNP TOB2 ENST00000327492 human ensembl 74_37 -1 known missense c.841 p.G281S 0.000 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 39 0 0 16 4 20 DESI1 0 genome.wustl.edu 37 22 42016765 42016765 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 42016765 42016765 T C SNP DESI1 ENST00000263256 human ensembl 74_37 -1 known missense c.79 p.I27V 1.000 pfam_PPPDE_dom pfam_PPPDE_dom - no_errors DESI1 HGNC ENSG00000100418 17 0 0 20 3 13.0435 SREBF2 0 genome.wustl.edu 37 22 42262964 42262964 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 42262964 42262964 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.218 p.S73N 0.005 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 105 0 0 71 18 20.2247 SREBF2 0 genome.wustl.edu 37 22 42299067 42299067 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 42299067 42299067 T C SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.3001 p.Y1001H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 17 0 0 6 2 25 ATP5L2 0 genome.wustl.edu 37 22 43036028 43036028 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 43036028 43036028 T A SNP ATP5L2 ENST00000505920 human ensembl 74_37 -1 known missense c.253 p.T85S 1.000 pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met - no_errors ATP5L2 HGNC ENSG00000249222 68 0 0 47 12 20.339 ARFGAP3 0 genome.wustl.edu 37 22 43218294 43218294 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 43218294 43218294 A G SNP ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known missense c.794 p.V265A 0.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 270 0 0 206 35 14.5228 MCAT 0 genome.wustl.edu 37 22 43529260 43529260 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 43529260 43529260 A G SNP MCAT ENST00000290429 human ensembl 74_37 -1 known missense c.962 p.V321A 1.000 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC ENSG00000100294 261 0 0 205 54 20.8494 SCUBE1 0 genome.wustl.edu 37 22 43604189 43604189 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 43604189 43604189 A C SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.2623 p.Y875D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 169 0 0 133 24 15.2866 EFCAB6 0 genome.wustl.edu 37 22 44112809 44112809 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 44112809 44112809 T C SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.801 p.E267 0.001 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 183 0 0 125 18 12.5874 SULT4A1 0 genome.wustl.edu 37 22 44258197 44258197 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 44258197 44258197 G A SNP SULT4A1 ENST00000330884 human ensembl 74_37 -1 known silent c.66 p.F22 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT4A1 HGNC ENSG00000130540 68 0 0 37 7 15.9091 PARVG 0 genome.wustl.edu 37 22 44585064 44585064 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 44585064 44585064 C T SNP PARVG ENST00000415224 human ensembl 74_37 +1 known silent c.318 p.L106 0.006 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 96 0 0 50 13 20.6349 PARVG 0 genome.wustl.edu 37 22 44592258 44592258 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 44592258 44592258 A G SNP PARVG ENST00000415224 human ensembl 74_37 +1 known missense c.674 p.D225G 0.988 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 107 1 0.925926 74 20 21.2766 KIAA1644 0 genome.wustl.edu 37 22 44681392 44681392 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 44681392 44681392 A G SNP KIAA1644 ENST00000381176 human ensembl 74_37 -1 putative missense c.515 p.L172P 0.290 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 78 0 0 76 15 16.4835 PHF21B 0 genome.wustl.edu 37 22 45279040 45279040 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 45279040 45279040 G A SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known silent c.1522 p.L508 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 148 0 0 109 25 18.6567 FAM118A 0 genome.wustl.edu 37 22 45719147 45719147 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 45719147 45719147 C A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.139 p.P47T 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 109 0 0 90 16 15.0943 FAM118A 0 genome.wustl.edu 37 22 45719217 45719217 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 45719217 45719217 A G SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.209 p.H70R 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 132 1 0.75188 94 17 15.3153 WNT7B 0 genome.wustl.edu 37 22 46318891 46318891 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 46318891 46318891 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.895 p.P299S 0.911 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 109 0 0 76 5 6.17284 PPARA 0 genome.wustl.edu 37 22 46614282 46614282 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 46614282 46614282 C T SNP PPARA ENST00000262735 human ensembl 74_37 +1 known silent c.492 p.V164 0.975 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 269 0 0 178 54 23.2759 PKDREJ 0 genome.wustl.edu 37 22 46655729 46655729 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 46655729 46655729 A G SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.3491 p.I1164T 0.014 smart_GPS_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 248 0 0 166 54 24.5455 CELSR1 0 genome.wustl.edu 37 22 46930187 46930187 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 46930187 46930187 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.2881 p.V961M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 102 1 0.970874 52 15 22.3881 GRAMD4 0 genome.wustl.edu 37 22 47068811 47068811 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 47068811 47068811 T A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1156 p.Y386N 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 48 0 0 46 6 11.5385 BRD1 0 genome.wustl.edu 37 22 50197911 50197911 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50197911 50197911 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.1465 p.G489R 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 55 0 0 53 15 22.0588 TUBGCP6 0 genome.wustl.edu 37 22 50664613 50664613 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50664613 50664613 A G SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.1699 p.L567 0.930 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 283 0 0 196 60 23.4375 PLXNB2 0 genome.wustl.edu 37 22 50728169 50728169 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50728169 50728169 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.845 p.A282V 0.857 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 61 0 0 60 13 17.8082 SBF1 0 genome.wustl.edu 37 22 50897733 50897733 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50897733 50897733 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known silent c.3777 p.S1259 0.011 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 25 0 0 28 4 12.5 SBF1 0 genome.wustl.edu 37 22 50898519 50898519 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50898519 50898519 A G SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.3353 p.M1118T 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 53 0 0 41 10 19.6078 SBF1 0 genome.wustl.edu 37 22 50900413 50900413 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50900413 50900413 G T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known silent c.2532 p.T844 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 135 0 0 108 10 8.47458 SBF1 0 genome.wustl.edu 37 22 50906258 50906258 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50906258 50906258 T C SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.236 p.Y79C 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 34 0 0 21 3 12.5 MIOX 0 genome.wustl.edu 37 22 50928213 50928213 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50928213 50928213 G A SNP MIOX ENST00000395733 human ensembl 74_37 +1 known missense c.655 p.G219R 0.044 NULL pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 126 0 0 62 20 24.3902 KLHDC7B 0 genome.wustl.edu 37 22 50987826 50987826 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50987826 50987826 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1231 p.G411S 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 123 0 0 98 28 22.2222 CHKB 0 genome.wustl.edu 37 22 51018465 51018465 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 51018465 51018465 T C SNP CHKB ENST00000406938 human ensembl 74_37 -1 known missense c.865 p.T289A 0.582 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 224 1 0.444444 175 31 15.0485 MAPK8IP2 0 genome.wustl.edu 37 22 51040316 51040316 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 51040316 51040316 G A SNP MAPK8IP2 ENST00000329492 human ensembl 74_37 +1 known missense c.164 p.C55Y 0.997 NULL pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 90 0 0 62 14 18.4211 ACR 0 genome.wustl.edu 37 22 51177745 51177745 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 51177745 51177745 C T SNP ACR ENST00000216139 human ensembl 74_37 +1 known missense c.124 p.R42C 0.553 pirsf_Pept_S1A_acrosin,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 13 0 0 14 4 22.2222 LOC442075 0 genome.wustl.edu 37 3 10029520 10029520 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 10029520 10029520 T C SNP LOC442075 ENST00000440568 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors AC034193.5 Clone_based_vega_gene ENSG00000180385 29 0 0 14 6 30 SENP7 0 genome.wustl.edu 37 3 101060559 101060559 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 101060559 101060559 T C SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.2171 p.Y724C 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 106 0 0 80 27 25.2336 SENP7 0 genome.wustl.edu 37 3 101083732 101083732 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 101083732 101083732 A G SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known silent c.1422 p.S474 0.002 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 148 0 0 123 21 14.5833 ZBTB11 0 genome.wustl.edu 37 3 101384247 101384247 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 101384247 101384247 G A SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.1184 p.A395V 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 187 0 0 125 39 23.7805 IRAK2 0 genome.wustl.edu 37 3 10264468 10264468 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 10264468 10264468 C T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.1162 p.R388W 0.744 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 224 0 0 124 40 24.3902 ALCAM 0 genome.wustl.edu 37 3 105271332 105271332 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 105271332 105271332 A G SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.1567 p.N523D 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 303 0 0 224 44 16.4179 CBLB 0 genome.wustl.edu 37 3 105400628 105400628 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 105400628 105400628 T C SNP CBLB ENST00000264122 human ensembl 74_37 -1 known missense c.2236 p.T746A 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 240 0 0 164 11 6.28571 IFT57 0 genome.wustl.edu 37 3 107938290 107938290 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 107938290 107938290 T C SNP IFT57 ENST00000264538 human ensembl 74_37 -1 known silent c.342 p.T114 0.359 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 181 0 0 108 30 21.7391 IFT57 0 genome.wustl.edu 37 3 107941070 107941070 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 107941070 107941070 G A SNP IFT57 ENST00000264538 human ensembl 74_37 -1 known missense c.100 p.P34S 1.000 NULL pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 47 0 0 34 12 26.087 MYH15 0 genome.wustl.edu 37 3 108224573 108224573 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 108224573 108224573 T C SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known silent c.252 p.G84 0.985 pfam_Myosin_N,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 285 0 0 209 65 23.7226 KIAA1524 0 genome.wustl.edu 37 3 108282076 108282076 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 108282076 108282076 T C SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.1531 p.T511A 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 260 1 0.383142 214 53 19.8502 MORC1 0 genome.wustl.edu 37 3 108682336 108682336 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 108682336 108682336 A T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.2724 p.N908K 0.030 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 306 0 0 218 57 20.7273 SLC6A11 0 genome.wustl.edu 37 3 10916650 10916650 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 10916650 10916650 T C SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.761 p.V254A 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 346 0 0 234 56 19.3103 SLC6A1 0 genome.wustl.edu 37 3 11078588 11078588 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 11078588 11078588 G A SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.1736 p.R579H 0.998 NULL pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 74 0 0 60 15 20 SLC9C1 0 genome.wustl.edu 37 3 111927065 111927065 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 111927065 111927065 T C SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.1946 p.Y649C 0.107 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 389 0 0 257 52 16.8285 SLC9C1 0 genome.wustl.edu 37 3 111997623 111997623 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 111997623 111997623 T C SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.271 p.T91A 0.999 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 275 0 0 181 38 17.3516 CCDC80 0 genome.wustl.edu 37 3 112324479 112324479 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 112324479 112324479 G T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.2638 p.P880T 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 114 0 0 92 15 14.0187 WDR52 0 genome.wustl.edu 37 3 113115503 113115503 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 113115503 113115503 A T SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.1641 p.D547E 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 121 0 0 93 30 24.3902 SPICE1 0 genome.wustl.edu 37 3 113184570 113184570 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 113184570 113184570 T C SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.1217 p.D406G 1.000 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 183 0 0 129 33 20.3704 SIDT1 0 genome.wustl.edu 37 3 113329934 113329934 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 113329934 113329934 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.1800 p.S600 0.866 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 172 0 0 135 30 18.1818 DRD3 0 genome.wustl.edu 37 3 113890604 113890604 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 113890604 113890604 G A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.236 p.A79V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 129 0 0 109 17 13.4921 MIR568 0 genome.wustl.edu 37 3 114035389 114035389 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 114035389 114035389 T C SNP MIR568 ENST00000385036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR568 HGNC ENSG00000207770 146 0 0 87 19 17.9245 ZBTB20 0 genome.wustl.edu 37 3 114069373 114069373 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 114069373 114069373 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1552 p.G518S 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 95 0 0 79 19 19.3878 ZBTB20 0 genome.wustl.edu 37 3 114069493 114069493 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 114069493 114069493 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1432 p.R478C 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 149 0 0 108 39 26.5306 B4GALT4 0 genome.wustl.edu 37 3 118945806 118945806 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 118945806 118945806 C T SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known silent c.336 p.R112 0.585 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 130 1 0.763359 86 19 18.0952 ARHGAP31 0 genome.wustl.edu 37 3 119120876 119120876 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 119120876 119120876 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1277 p.R426Q 0.564 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 110 0 0 87 14 13.8614 ARHGAP31 0 genome.wustl.edu 37 3 119121036 119121036 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 119121036 119121036 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.1437 p.N479 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 191 0 0 123 12 8.88889 MAATS1 0 genome.wustl.edu 37 3 119452224 119452224 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 119452224 119452224 T C SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known silent c.1215 p.L405 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 162 0 0 109 22 16.7939 POLQ 0 genome.wustl.edu 37 3 121207128 121207128 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 121207128 121207128 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.4650 p.C1550 0.004 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 215 0 0 167 29 14.7959 POLQ 0 genome.wustl.edu 37 3 121263572 121263572 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 121263572 121263572 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known splice_site c.343+2 e2+2 1.000 - - - no_errors POLQ HGNC ENSG00000051341 117 0 0 60 16 21.0526 GOLGB1 0 genome.wustl.edu 37 3 121409831 121409831 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 121409831 121409831 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.8365 p.A2789T 0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 206 0 0 125 32 20.3822 ILDR1 0 genome.wustl.edu 37 3 121712306 121712306 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 121712306 121712306 T C SNP ILDR1 ENST00000344209 human ensembl 74_37 -1 known silent c.1290 p.A430 0.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 27 0 0 28 8 22.2222 CASR 0 genome.wustl.edu 37 3 122003712 122003712 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 122003712 122003712 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2941 p.G981S 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 65 0 0 46 8 14.8148 SYN2 0 genome.wustl.edu 37 3 12208796 12208796 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 12208796 12208796 C T SNP SYN2 ENST00000425297 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SYN2 HGNC ENSG00000157152 23 0 0 19 5 20.8333 PARP15 0 genome.wustl.edu 37 3 122335917 122335917 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 122335917 122335917 T C SNP PARP15 ENST00000464300 human ensembl 74_37 +1 known silent c.906 p.G302 0.019 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 274 1 0.363636 259 21 7.5 PARP15 0 genome.wustl.edu 37 3 122345871 122345871 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 122345871 122345871 A G SNP PARP15 ENST00000464300 human ensembl 74_37 +1 known missense c.1429 p.M477V 0.001 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 98 0 0 78 25 24.2718 KALRN 0 genome.wustl.edu 37 3 124281903 124281903 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 124281903 124281903 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5143 p.V1715M 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 131 0 0 85 27 24.1071 SLC12A8 0 genome.wustl.edu 37 3 124826845 124826845 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 124826845 124826845 G A SNP SLC12A8 ENST00000423114 human ensembl 74_37 -1 known silent c.1272 p.Y424 0.463 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom - no_errors SLC12A8 HGNC ENSG00000221955 61 0 0 43 11 20.3704 SLC12A8 0 genome.wustl.edu 37 3 124906230 124906230 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 124906230 124906230 C T SNP SLC12A8 ENST00000423114 human ensembl 74_37 -1 known missense c.328 p.V110I 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom - no_errors SLC12A8 HGNC ENSG00000221955 43 0 0 29 11 27.5 CCDC37 0 genome.wustl.edu 37 3 126154470 126154470 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 126154470 126154470 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.1700 p.R567H 1.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 32 0 0 33 4 10.8108 UROC1 0 genome.wustl.edu 37 3 126222903 126222903 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 126222903 126222903 T C SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known silent c.837 p.K279 0.980 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 129 1 0.769231 97 16 14.1593 PLXNA1 0 genome.wustl.edu 37 3 126733642 126733642 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 126733642 126733642 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2845 p.R949C 0.997 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 31 0 0 20 5 20 PLXNA1 0 genome.wustl.edu 37 3 126748346 126748346 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 126748346 126748346 T C SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4837 p.S1613P 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 179 1 0.555556 131 25 16.0256 C3orf56 0 genome.wustl.edu 37 3 126915966 126915966 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 126915966 126915966 C T SNP C3orf56 ENST00000398112 human ensembl 74_37 +1 known silent c.438 p.G146 0.000 NULL NULL - no_errors C3orf56 HGNC ENSG00000214324 119 0 0 79 25 24.0385 ACAD9 0 genome.wustl.edu 37 3 128627052 128627052 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 128627052 128627052 T C SNP ACAD9 ENST00000308982 human ensembl 74_37 +1 known missense c.1303 p.Y435H 1.000 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 278 0 0 170 48 22.0183 RPL32P3 0 genome.wustl.edu 37 3 129115263 129115263 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 129115263 129115263 G A SNP RPL32P3 ENST00000506593 human ensembl 74_37 -1 known rna NULL NULL 0.527 - - - no_errors RPL32P3 HGNC ENSG00000251474 160 0 0 119 8 6.29921 EFCAB12 0 genome.wustl.edu 37 3 129130176 129130176 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 129130176 129130176 C T SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known missense c.860 p.R287K 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 141 0 0 95 25 20.8333 IFT122 0 genome.wustl.edu 37 3 129202433 129202433 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 129202433 129202433 C T SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.1912 p.R638W 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 49 0 0 34 14 29.1667 TMCC1 0 genome.wustl.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 129370592 129370592 T C SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.1694 p.Q565R 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 108 1 0.917431 90 19 17.4312 COL6A6 0 genome.wustl.edu 37 3 130346189 130346189 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 130346189 130346189 T C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.4968 p.G1656 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 133 0 0 82 17 17.1717 COL6A6 0 genome.wustl.edu 37 3 130394222 130394222 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 130394222 130394222 C A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6773 p.A2258D 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 20 0 0 17 5 22.7273 ASTE1 0 genome.wustl.edu 37 3 130743233 130743233 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 130743233 130743233 T C SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known silent c.918 p.L306 0.986 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 159 0 0 128 47 26.8571 NUDT16P1 0 genome.wustl.edu 37 3 131082251 131082251 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 131082251 131082251 C T SNP NUDT16P1 ENST00000499077 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NUDT16P Clone_based_vega_gene ENSG00000246082 42 0 0 26 3 10.3448 DNAJC13 0 genome.wustl.edu 37 3 132213065 132213065 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 132213065 132213065 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.3903 p.D1301 1.000 pfam_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 165 0 0 119 28 19.0476 BFSP2 0 genome.wustl.edu 37 3 133167397 133167397 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 133167397 133167397 A G SNP BFSP2 ENST00000302334 human ensembl 74_37 +1 known missense c.637 p.I213V 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 71 0 0 64 15 18.9873 TOPBP1 0 genome.wustl.edu 37 3 133356834 133356834 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 133356834 133356834 G A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known silent c.2406 p.V802 0.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 383 0 0 248 73 22.7414 TOPBP1 0 genome.wustl.edu 37 3 133358933 133358933 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 133358933 133358933 A G SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known silent c.2103 p.G701 0.014 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 103 0 0 64 18 21.9512 TF 0 genome.wustl.edu 37 3 133467417 133467417 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 133467417 133467417 A G SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.205 p.R69G 0.994 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 76 0 0 61 14 18.6667 NUP210 0 genome.wustl.edu 37 3 13372109 13372109 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 13372109 13372109 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.3961 p.R1321C 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 169 0 0 95 35 26.9231 MSL2 0 genome.wustl.edu 37 3 135870304 135870304 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 135870304 135870304 A G SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.1419 p.V473 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 159 1 0.625 104 28 21.2121 STAG1 0 genome.wustl.edu 37 3 136057249 136057249 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 136057249 136057249 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.3716 p.D1239G 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 149 0 0 123 21 14.5833 FBLN2 0 genome.wustl.edu 37 3 13670760 13670760 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 13670760 13670760 T C SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.2810 p.F937S 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 27 0 0 20 9 31.0345 CLDN18 0 genome.wustl.edu 37 3 137729094 137729094 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 137729094 137729094 G A SNP CLDN18 ENST00000183605 human ensembl 74_37 +1 known silent c.27 p.V9 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 38 0 0 21 4 16 ESYT3 0 genome.wustl.edu 37 3 138193080 138193080 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 138193080 138193080 C T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.2354 p.T785I 0.699 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 327 0 0 196 47 19.3416 FOXL2 0 genome.wustl.edu 37 3 138665239 138665239 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 138665239 138665239 T C SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known missense c.326 p.N109S 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 73 0 0 61 12 16.4384 WNT7A 0 genome.wustl.edu 37 3 13896052 13896052 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 13896052 13896052 G A SNP WNT7A ENST00000285018 human ensembl 74_37 -1 known missense c.547 p.H183Y 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 442 0 0 273 54 16.5138 COPB2 0 genome.wustl.edu 37 3 139077910 139077910 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 139077910 139077910 A G SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.2414 p.F805S 1.000 pirsf_COPB2 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 271 0 0 187 41 17.9825 TRIM42 0 genome.wustl.edu 37 3 140406631 140406631 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 140406631 140406631 G T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.1107 p.K369N 0.999 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 108 1 0.917431 61 10 14.0845 RASA2 0 genome.wustl.edu 37 3 141292021 141292021 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 141292021 141292021 T C SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known silent c.1317 p.D439 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 113 0 0 82 23 21.9048 RASA2 0 genome.wustl.edu 37 3 141300007 141300007 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 141300007 141300007 A G SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known missense c.1740 p.I580M 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 53 0 0 35 6 14.6341 CNTN6 0 genome.wustl.edu 37 3 1414032 1414032 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 1414032 1414032 C T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.1542 p.G514 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 179 0 0 130 26 16.6667 XRN1 0 genome.wustl.edu 37 3 142137699 142137699 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 142137699 142137699 T C SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.1198 p.T400A 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 199 0 0 139 33 19.186 PLS1 0 genome.wustl.edu 37 3 142423328 142423328 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 142423328 142423328 A T SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known missense c.1529 p.D510V 1.000 superfamily_CH-domain pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 86 0 0 65 22 25.2874 SLC9A9 0 genome.wustl.edu 37 3 142987779 142987779 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 142987779 142987779 T C SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.1648 p.T550A 0.809 prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 180 0 0 106 37 25.8741 ZIC4 0 genome.wustl.edu 37 3 147120530 147120530 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 147120530 147120530 T C SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.205 p.T69A 0.157 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 296 0 0 214 63 22.7437 ZIC1 0 genome.wustl.edu 37 3 147128763 147128763 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 147128763 147128763 A G SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known silent c.864 p.K288 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 119 0 0 99 16 13.913 C3orf20 0 genome.wustl.edu 37 3 14768513 14768513 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 14768513 14768513 T C SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.1672 p.S558P 0.162 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 163 0 0 105 33 23.913 RNF13 0 genome.wustl.edu 37 3 149589943 149589943 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 149589943 149589943 T C SNP RNF13 ENST00000344229 human ensembl 74_37 +1 known splice_site c.321+2 e3+2 1.000 - - - no_errors RNF13 HGNC ENSG00000082996 67 0 0 46 10 17.8571 P2RY14 0 genome.wustl.edu 37 3 150931733 150931733 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 150931733 150931733 T C SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known silent c.372 p.V124 0.014 pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 106 0 0 100 22 18.0328 MRPS25 0 genome.wustl.edu 37 3 15094962 15094962 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15094962 15094962 T C SNP MRPS25 ENST00000253686 human ensembl 74_37 -1 known missense c.254 p.Q85R 1.000 pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPS25 HGNC ENSG00000131368 89 0 0 57 15 20.8333 P2RY13 0 genome.wustl.edu 37 3 151046137 151046137 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 151046137 151046137 T C SNP P2RY13 ENST00000325602 human ensembl 74_37 -1 known missense c.707 p.Y236C 0.014 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 152 0 0 113 23 16.9118 MED12L 0 genome.wustl.edu 37 3 151085530 151085530 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 151085530 151085530 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.3319 p.A1107T 0.997 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 262 0 0 196 63 24.3243 IGSF10 0 genome.wustl.edu 37 3 151155548 151155548 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 151155548 151155548 T C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.6801 p.P2267 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 268 0 0 200 54 21.2598 ZFYVE20 0 genome.wustl.edu 37 3 15116352 15116352 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15116352 15116352 C T SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1292 p.R431H 0.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 110 0 0 71 16 18.3908 ZFYVE20 0 genome.wustl.edu 37 3 15131914 15131914 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15131914 15131914 T C SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.281 p.Q94R 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 191 0 0 139 36 20.5714 AADACL2 0 genome.wustl.edu 37 3 151475230 151475230 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 151475230 151475230 A G SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.1054 p.T352A 0.005 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 260 0 0 225 41 15.4135 SLC33A1 0 genome.wustl.edu 37 3 155560327 155560327 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 155560327 155560327 A G SNP SLC33A1 ENST00000359479 human ensembl 74_37 -1 known missense c.857 p.V286A 0.007 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 122 0 0 69 19 21.5909 HACL1 0 genome.wustl.edu 37 3 15604967 15604967 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15604967 15604967 T C SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known silent c.1602 p.T534 0.985 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 125 0 0 80 25 23.8095 HACL1 0 genome.wustl.edu 37 3 15609957 15609957 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15609957 15609957 T C SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known missense c.1232 p.N411S 1.000 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 249 0 0 173 37 17.619 HACL1 0 genome.wustl.edu 37 3 15610025 15610025 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15610025 15610025 T C SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known silent c.1164 p.L388 0.227 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 250 0 0 202 38 15.8333 ANKRD28 0 genome.wustl.edu 37 3 15726863 15726863 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15726863 15726863 T C SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.2268 p.I756M 0.972 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 282 0 0 193 45 18.9076 GFM1 0 genome.wustl.edu 37 3 158402330 158402330 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 158402330 158402330 C T SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known silent c.1782 p.C594 0.991 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 136 0 0 105 20 16 NMD3 0 genome.wustl.edu 37 3 160955951 160955951 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 160955951 160955951 G A SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known missense c.628 p.E210K 1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 295 0 0 212 55 20.5993 SI 0 genome.wustl.edu 37 3 164700040 164700040 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 164700040 164700040 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.5406 p.T1802 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 142 0 0 90 14 13.4615 SI 0 genome.wustl.edu 37 3 164767648 164767648 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 164767648 164767648 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.1528 p.S510P 0.990 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 148 0 0 92 25 21.3675 GOLIM4 0 genome.wustl.edu 37 3 167750468 167750468 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 167750468 167750468 T C SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known missense c.1016 p.H339R 1.000 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 207 0 0 156 28 15.2174 SLC7A14 0 genome.wustl.edu 37 3 170198305 170198305 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 170198305 170198305 T C SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1766 p.Y589C 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 95 0 0 84 16 16 PLD1 0 genome.wustl.edu 37 3 171405313 171405313 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 171405313 171405313 T C SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.1601 p.N534S 0.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 205 0 0 162 32 16.4948 PLD1 0 genome.wustl.edu 37 3 171406516 171406516 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 171406516 171406516 C T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.1489 p.V497M 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 138 1 0.719424 79 25 24.0385 PLD1 0 genome.wustl.edu 37 3 171406526 171406526 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 171406526 171406526 T C SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.1479 p.R493 0.999 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 139 0 0 83 22 20.9524 PLD1 0 genome.wustl.edu 37 3 171455811 171455811 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 171455811 171455811 T A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.31 p.T11S 0.854 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 139 0 0 127 22 14.7651 FNDC3B 0 genome.wustl.edu 37 3 172065073 172065073 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 172065073 172065073 A G SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known silent c.2436 p.E812 0.994 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 241 0 0 159 36 18.4615 NLGN1 0 genome.wustl.edu 37 3 173322505 173322505 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 173322505 173322505 G A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known silent c.117 p.Q39 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 180 0 0 142 34 19.3182 NLGN1 0 genome.wustl.edu 37 3 173998423 173998423 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 173998423 173998423 A G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1922 p.N641S 1.000 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 223 0 0 171 38 18.1818 NAALADL2 0 genome.wustl.edu 37 3 174814922 174814922 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 174814922 174814922 T C SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.386 p.L129P 0.979 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 284 0 0 175 38 17.8404 ZMAT3 0 genome.wustl.edu 37 3 178745553 178745553 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 178745553 178745553 A G SNP ZMAT3 ENST00000311417 human ensembl 74_37 -1 known silent c.438 p.N146 0.644 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT3 HGNC ENSG00000172667 110 0 0 57 21 26.9231 PIK3CA 0 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 178916944 178916944 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.331 p.K111E 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 175 0 0 127 26 16.9935 PIK3CA 0 genome.wustl.edu 37 3 178948070 178948070 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 178948070 178948070 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.2842 p.K948E 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 166 0 0 124 29 18.9542 B3GNT5 0 genome.wustl.edu 37 3 182987868 182987868 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 182987868 182987868 A G SNP B3GNT5 ENST00000326505 human ensembl 74_37 +1 known silent c.282 p.V94 0.968 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 165 0 0 111 46 29.2994 KLHL6 0 genome.wustl.edu 37 3 183225901 183225901 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 183225901 183225901 T C SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.855 p.P285 0.003 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 138 0 0 95 5 5 HTR3D 0 genome.wustl.edu 37 3 183754156 183754156 + Splice_Site SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 183754156 183754156 G T SNP HTR3D ENST00000334128 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors HTR3D HGNC ENSG00000186090 59 0 0 45 8 15.0943 ABCF3 0 genome.wustl.edu 37 3 183906155 183906155 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 183906155 183906155 C T SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.796 p.R266W 0.386 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 210 0 0 150 31 17.1271 PSMD2 0 genome.wustl.edu 37 3 184019697 184019697 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 184019697 184019697 G A SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.542 p.R181Q 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 128 0 0 88 17 16.1905 PSMD2 0 genome.wustl.edu 37 3 184020206 184020206 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 184020206 184020206 T C SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known silent c.753 p.C251 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 121 0 0 82 17 17.1717 SATB1 0 genome.wustl.edu 37 3 18428081 18428081 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 18428081 18428081 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1229 p.R410Q 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 120 0 0 94 21 18.2609 VPS8 0 genome.wustl.edu 37 3 184557512 184557512 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 184557512 184557512 T C SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known silent c.507 p.G169 0.912 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 42 0 0 28 8 22.2222 SATB1 0 genome.wustl.edu 37 3 18462397 18462397 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 18462397 18462397 A G SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known silent c.63 p.S21 0.982 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 239 1 0.416667 163 32 16.4103 C3orf70 0 genome.wustl.edu 37 3 184801194 184801194 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 184801194 184801194 A G SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known silent c.354 p.P118 0.918 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 232 0 0 155 41 20.9184 TRA2B 0 genome.wustl.edu 37 3 185641624 185641624 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 185641624 185641624 A G SNP TRA2B ENST00000453386 human ensembl 74_37 -1 known missense c.482 p.F161S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 137 0 0 82 24 22.6415 ETV5 0 genome.wustl.edu 37 3 185769827 185769827 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 185769827 185769827 T C SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.1429 p.M477V 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 248 0 0 170 36 17.4757 CRYGS 0 genome.wustl.edu 37 3 186256602 186256602 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 186256602 186256602 A G SNP CRYGS ENST00000307944 human ensembl 74_37 -1 known silent c.420 p.Y140 0.140 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGS HGNC ENSG00000213139 124 0 0 100 25 20 KNG1 0 genome.wustl.edu 37 3 186450326 186450326 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 186450326 186450326 G A SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.793 p.V265M 0.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 208 1 0.478469 143 50 25.9067 LEPREL1 0 genome.wustl.edu 37 3 189705372 189705372 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 189705372 189705372 A G SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1042 p.Y348H 0.996 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 122 0 0 61 28 31.4607 CLDN16 0 genome.wustl.edu 37 3 190126276 190126276 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 190126276 190126276 T C SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.766 p.C256R 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 211 0 0 153 40 20.7254 MB21D2 0 genome.wustl.edu 37 3 192517221 192517221 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 192517221 192517221 A G SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.430 p.C144R 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 109 0 0 93 25 21.1864 LSG1 0 genome.wustl.edu 37 3 194387291 194387291 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 194387291 194387291 A G SNP LSG1 ENST00000265245 human ensembl 74_37 -1 known silent c.237 p.N79 0.999 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 226 0 0 122 40 24.6914 PCYT1A 0 genome.wustl.edu 37 3 195975110 195975110 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 195975110 195975110 T C SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.302 p.N101S 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 249 0 0 166 68 29.0598 UBXN7 0 genome.wustl.edu 37 3 196098870 196098870 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 196098870 196098870 T A SNP UBXN7 ENST00000296328 human ensembl 74_37 -1 known missense c.512 p.N171I 1.000 smart_UAS,pirsf_UCP037991_UAS/UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 154 0 0 99 44 30.7692 PIGX 0 genome.wustl.edu 37 3 196460765 196460765 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 196460765 196460765 T C SNP PIGX ENST00000296333 human ensembl 74_37 +1 known missense c.823 p.S275P 0.749 NULL pfam_PIG-X/PBN1,smart_PIG-X/PBN1 - no_errors PIGX HGNC ENSG00000163964 177 0 0 204 27 11.6883 PAK2 0 genome.wustl.edu 37 3 196539109 196539109 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 196539109 196539109 A G SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.793 p.T265A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 149 0 0 119 34 22.2222 SENP5 0 genome.wustl.edu 37 3 196613083 196613083 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 196613083 196613083 T C SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known missense c.1031 p.F344S 0.998 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 124 0 0 106 16 13.1148 NCBP2 0 genome.wustl.edu 37 3 196666226 196666226 + Silent SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 196666226 196666226 A C SNP NCBP2 ENST00000321256 human ensembl 74_37 -1 known silent c.156 p.T52 0.316 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NCBP2 HGNC ENSG00000114503 150 0 0 117 20 14.5985 KIAA0226 0 genome.wustl.edu 37 3 197430456 197430456 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 197430456 197430456 T C SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known missense c.533 p.N178S 1.000 smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 58 0 0 59 7 10.6061 LMLN 0 genome.wustl.edu 37 3 197701945 197701945 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 197701945 197701945 T C SNP LMLN ENST00000330198 human ensembl 74_37 +1 known splice_site c.348+2 e3+2 1.000 - - - no_errors LMLN HGNC ENSG00000185621 246 0 0 227 39 14.6617 SGOL1 0 genome.wustl.edu 37 3 20225109 20225109 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 20225109 20225109 T C SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known silent c.330 p.E110 0.042 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 262 0 0 170 38 18.2692 SLC4A7 0 genome.wustl.edu 37 3 27490198 27490198 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 27490198 27490198 C T SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.233 p.R78Q 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 229 0 0 164 38 18.8119 EOMES 0 genome.wustl.edu 37 3 27758600 27758600 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 27758600 27758600 T C SNP EOMES ENST00000449599 human ensembl 74_37 -1 known silent c.2079 p.K693 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 243 0 0 208 52 20 OSBPL10 0 genome.wustl.edu 37 3 31725576 31725576 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 31725576 31725576 G A SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known nonsense c.1276 p.R426* 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 107 0 0 71 15 17.4419 GPD1L 0 genome.wustl.edu 37 3 32201136 32201136 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 32201136 32201136 G A SNP GPD1L ENST00000282541 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 96 0 0 40 9 18.3673 TMPPE 0 genome.wustl.edu 37 3 33135378 33135378 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 33135378 33135378 A G SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known missense c.310 p.F104L 1.000 NULL pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 24 0 0 32 7 17.9487 ARPP21 0 genome.wustl.edu 37 3 35731623 35731623 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 35731623 35731623 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.536 p.A179V 0.999 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 128 0 0 72 22 23.4043 ARPP21 0 genome.wustl.edu 37 3 35756944 35756944 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 35756944 35756944 A G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.809 p.Q270R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 202 0 0 154 17 9.94152 TRANK1 0 genome.wustl.edu 37 3 36873767 36873767 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 36873767 36873767 A T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7175 p.V2392D 0.999 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 231 0 0 177 35 16.5094 GOLGA4 0 genome.wustl.edu 37 3 37368264 37368264 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 37368264 37368264 T C SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known silent c.4887 p.L1629 0.932 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 182 0 0 122 29 19.2053 VILL 0 genome.wustl.edu 37 3 38043035 38043035 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38043035 38043035 A G SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.1271 p.Y424C 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 125 1 0.793651 97 12 11.0092 DLEC1 0 genome.wustl.edu 37 3 38127756 38127756 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38127756 38127756 A G SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.1460 p.Y487C 0.961 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 354 1 0.28169 249 46 15.5932 OXSR1 0 genome.wustl.edu 37 3 38263180 38263180 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38263180 38263180 T C SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known splice_site c.600+2 e6+2 1.000 - - - no_errors OXSR1 HGNC ENSG00000172939 200 0 0 139 36 20.5714 OXSR1 0 genome.wustl.edu 37 3 38287645 38287645 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38287645 38287645 G A SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known missense c.1190 p.G397E 0.904 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 169 0 0 151 37 19.6809 SLC22A13 0 genome.wustl.edu 37 3 38316147 38316147 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38316147 38316147 G A SNP SLC22A13 ENST00000311856 human ensembl 74_37 +1 known missense c.535 p.G179S 0.951 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 112 0 0 61 19 23.75 SCN5A 0 genome.wustl.edu 37 3 38603961 38603961 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38603961 38603961 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3908 p.R1303Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 30 0 0 28 6 17.6471 SCN10A 0 genome.wustl.edu 37 3 38748787 38748787 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38748787 38748787 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4369 p.P1457S 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 139 0 0 97 12 11.0092 LRRN1 0 genome.wustl.edu 37 3 3886572 3886572 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 3886572 3886572 A G SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.247 p.N83D 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 122 0 0 111 33 22.9167 SCN11A 0 genome.wustl.edu 37 3 38888509 38888509 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38888509 38888509 A G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.5052 p.D1684 0.987 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 256 0 0 183 47 20.4348 SCN11A 0 genome.wustl.edu 37 3 38889232 38889232 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38889232 38889232 A G SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.4329 p.S1443 0.012 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 38 0 0 21 6 22.2222 WDR48 0 genome.wustl.edu 37 3 39111148 39111148 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 39111148 39111148 G T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.585 p.W195C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 126 0 0 93 24 20.5128 ZNF619 0 genome.wustl.edu 37 3 40529325 40529325 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 40529325 40529325 A G SNP ZNF619 ENST00000447116 human ensembl 74_37 +1 known missense c.1444 p.T482A 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ENSG00000177873 116 1 0.854701 89 23 20.5357 CTNNB1 0 genome.wustl.edu 37 3 41266486 41266486 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 41266486 41266486 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 265 0 0 190 48 20.1681 TRAK1 0 genome.wustl.edu 37 3 42261039 42261039 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 42261039 42261039 A G SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.1843 p.T615A 1.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 311 1 0.320513 214 55 20.4461 CHL1 0 genome.wustl.edu 37 3 431057 431057 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 431057 431057 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known silent c.2370 p.T790 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 74 0 0 66 18 21.4286 POMGNT2 0 genome.wustl.edu 37 3 43122854 43122854 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 43122854 43122854 G A SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.70 p.R24W 0.994 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 28 0 0 13 3 18.75 SNRK 0 genome.wustl.edu 37 3 43388884 43388884 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 43388884 43388884 C T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.1133 p.T378M 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 166 0 0 114 34 22.973 ZNF445 0 genome.wustl.edu 37 3 44489669 44489669 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 44489669 44489669 G A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known silent c.1494 p.S498 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 230 0 0 157 28 15.1351 ZKSCAN7 0 genome.wustl.edu 37 3 44598750 44598750 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 44598750 44598750 G A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.211 p.A71T 0.998 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 87 0 0 74 15 16.8539 ZNF197 0 genome.wustl.edu 37 3 44683453 44683453 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 44683453 44683453 A G SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known silent c.831 p.A277 0.960 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 49 0 0 38 11 22.449 ZNF35 0 genome.wustl.edu 37 3 44700955 44700955 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 44700955 44700955 G A SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.1100 p.C367Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 105 0 0 85 22 20.5607 KIF15 0 genome.wustl.edu 37 3 44872475 44872475 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 44872475 44872475 A G SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.3136 p.T1046A 0.989 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 381 0 0 269 61 18.4848 ZDHHC3 0 genome.wustl.edu 37 3 45000709 45000709 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 45000709 45000709 C T SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known missense c.220 p.V74M 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 149 0 0 114 27 19.1489 XCR1 0 genome.wustl.edu 37 3 46062826 46062826 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 46062826 46062826 T C SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.614 p.Y205C 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 78 0 0 53 14 20.8955 CCR1 0 genome.wustl.edu 37 3 46245390 46245390 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 46245390 46245390 C T SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.415 p.V139M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 104 0 0 74 20 21.2766 LTF 0 genome.wustl.edu 37 3 46480816 46480816 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 46480816 46480816 G A SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.1879 p.R627C 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 146 0 0 141 31 18.0233 ALS2CL 0 genome.wustl.edu 37 3 46721994 46721994 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 46721994 46721994 G A SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.1474 p.R492C 1.000 pfam_MORN,smart_MORN pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 67 0 0 56 13 18.8406 PRSS45 0 genome.wustl.edu 37 3 46784041 46784041 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 46784041 46784041 A G SNP PRSS45 ENST00000442359 human ensembl 74_37 -1 known silent c.486 p.V162 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS45 HGNC ENSG00000188086 101 0 0 67 9 11.8421 PTH1R 0 genome.wustl.edu 37 3 46944090 46944090 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 46944090 46944090 A G SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.1286 p.Y429C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 44 0 0 27 7 20.5882 NBEAL2 0 genome.wustl.edu 37 3 47039989 47039989 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47039989 47039989 A G SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.3155 p.H1052R 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 18 0 0 20 2 9.09091 KIF9 0 genome.wustl.edu 37 3 47282448 47282448 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47282448 47282448 A G SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known silent c.1767 p.G589 0.992 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 267 1 0.373134 174 39 18.3099 KIF9 0 genome.wustl.edu 37 3 47318859 47318859 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47318859 47318859 A G SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known silent c.6 p.G2 0.828 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 110 0 0 77 17 18.0851 PTPN23 0 genome.wustl.edu 37 3 47450682 47450682 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47450682 47450682 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.1672 p.R558C 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 79 0 0 66 13 16.4557 SCAP 0 genome.wustl.edu 37 3 47465457 47465457 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47465457 47465457 C T SNP SCAP ENST00000320017 human ensembl 74_37 -1 known missense c.331 p.G111S 0.790 NULL NULL - no_errors SCAP HGNC ENSG00000114650 95 0 0 71 18 20.2247 SCAP 0 genome.wustl.edu 37 3 47470135 47470135 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47470135 47470135 A G SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.278 p.V93A 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 172 0 0 122 28 18.6667 SMARCC1 0 genome.wustl.edu 37 3 47651722 47651722 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47651722 47651722 T C SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known silent c.2877 p.E959 0.932 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 432 0 0 315 72 18.6047 SMARCC1 0 genome.wustl.edu 37 3 47747936 47747936 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47747936 47747936 T C SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1003 p.T335A 0.990 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 100 1 0.990099 73 13 15.1163 DHX30 0 genome.wustl.edu 37 3 47887884 47887884 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47887884 47887884 A G SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1322 p.D441G 1.000 smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 90 0 0 71 22 23.6559 DHX30 0 genome.wustl.edu 37 3 47889727 47889727 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47889727 47889727 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.2344 p.R782W 0.998 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 46 0 0 36 9 20 MAP4 0 genome.wustl.edu 37 3 47950531 47950531 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47950531 47950531 C T SNP MAP4 ENST00000264724 human ensembl 74_37 -1 known missense c.1201 p.A401T 0.878 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 527 0 0 315 74 19.0231 COL7A1 0 genome.wustl.edu 37 3 48604159 48604159 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 48604159 48604159 A G SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.8238 p.G2746 0.997 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 187 0 0 127 25 16.4474 COL7A1 0 genome.wustl.edu 37 3 48630051 48630051 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 48630051 48630051 G T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.928 p.L310I 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 95 0 0 53 11 17.1875 CELSR3 0 genome.wustl.edu 37 3 48691211 48691211 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 48691211 48691211 A G SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.5289 p.H1763 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 142 0 0 115 33 22.2973 CELSR3 0 genome.wustl.edu 37 3 48696568 48696568 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 48696568 48696568 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3500 p.P1167H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 142 0 0 122 29 19.2053 LAMB2 0 genome.wustl.edu 37 3 49161917 49161917 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49161917 49161917 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.3238 p.A1080T 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 70 0 0 32 14 30.4348 CCDC36 0 genome.wustl.edu 37 3 49249252 49249252 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49249252 49249252 T C SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known silent c.39 p.S13 1.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 209 0 0 148 24 13.9535 BSN 0 genome.wustl.edu 37 3 49695210 49695210 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49695210 49695210 A G SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.8221 p.S2741G 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 74 0 0 58 16 21.6216 BSN 0 genome.wustl.edu 37 3 49700635 49700635 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49700635 49700635 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.11044 p.H3682Y 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 51 0 0 37 16 30.1887 BSN 0 genome.wustl.edu 37 3 49701969 49701969 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49701969 49701969 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.11722 p.A3908S 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 124 0 0 86 20 18.8679 RNF123 0 genome.wustl.edu 37 3 49737143 49737143 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49737143 49737143 C T SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.922 p.R308W 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 95 0 0 64 17 20.9877 MST1R 0 genome.wustl.edu 37 3 49936349 49936349 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49936349 49936349 C T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1499 p.R500Q 0.373 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 154 0 0 96 28 22.5806 GNAT1 0 genome.wustl.edu 37 3 50231251 50231251 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 50231251 50231251 G A SNP GNAT1 ENST00000232461 human ensembl 74_37 +1 known missense c.515 p.R172H 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 62 0 0 45 13 22.4138 IFRD2 0 genome.wustl.edu 37 3 50326260 50326260 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 50326260 50326260 T C SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known missense c.1492 p.T498A 0.971 pfam_Interferon-rel_develop_reg_N pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 30 0 0 23 3 11.5385 HYAL1 0 genome.wustl.edu 37 3 50338063 50338063 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 50338063 50338063 A G SNP HYAL1 ENST00000266031 human ensembl 74_37 -1 known missense c.1159 p.F387L 1.000 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL1 HGNC ENSG00000114378 63 0 0 43 12 21.8182 HYAL2 0 genome.wustl.edu 37 3 50357862 50357862 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 50357862 50357862 G A SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.59 p.A20V 0.999 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 19 0 0 11 4 26.6667 RBM15B 0 genome.wustl.edu 37 3 51430017 51430017 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 51430017 51430017 C T SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.1187 p.A396V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 59 0 0 59 12 16.9014 TLR9 0 genome.wustl.edu 37 3 52256132 52256132 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52256132 52256132 C T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.2272 p.A758T 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 126 0 0 94 27 22.314 TLR9 0 genome.wustl.edu 37 3 52257592 52257592 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52257592 52257592 C T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.812 p.R271H 0.011 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 32 0 0 28 10 26.3158 TWF2 0 genome.wustl.edu 37 3 52265209 52265209 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52265209 52265209 C T SNP TWF2 ENST00000305533 human ensembl 74_37 -1 known silent c.417 p.S139 0.113 smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF2 HGNC ENSG00000247596 179 0 0 125 21 14.3836 DNAH1 0 genome.wustl.edu 37 3 52423490 52423490 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52423490 52423490 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.9509 p.T3170M 0.042 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 18 0 0 10 4 28.5714 BAP1 0 genome.wustl.edu 37 3 52439911 52439911 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52439911 52439911 C T SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known silent c.801 p.Q267 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 80 0 0 58 14 19.4444 SEMA3G 0 genome.wustl.edu 37 3 52469661 52469661 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52469661 52469661 A G SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known silent c.2307 p.H769 0.270 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 191 0 0 133 18 11.9205 STAB1 0 genome.wustl.edu 37 3 52556632 52556632 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52556632 52556632 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.6672 p.S2224 0.001 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 148 0 0 135 24 15.0943 NT5DC2 0 genome.wustl.edu 37 3 52563198 52563198 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52563198 52563198 T C SNP NT5DC2 ENST00000422318 human ensembl 74_37 -1 known missense c.385 p.T129A 0.845 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 86 0 0 68 20 22.7273 PBRM1 0 genome.wustl.edu 37 3 52637747 52637747 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52637747 52637747 T C SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.2569 p.T857A 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 55 0 0 45 10 18.1818 NEK4 0 genome.wustl.edu 37 3 52777458 52777458 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52777458 52777458 C T SNP NEK4 ENST00000233027 human ensembl 74_37 -1 known silent c.1914 p.A638 0.877 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 247 0 0 170 36 17.4757 ITIH1 0 genome.wustl.edu 37 3 52823759 52823759 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52823759 52823759 A G SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.2210 p.N737S 0.216 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 144 1 0.689655 128 21 14.094 CACNA1D 0 genome.wustl.edu 37 3 53694220 53694220 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 53694220 53694220 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known silent c.684 p.S228 1.000 pfam_Ion_trans_dom,prints_LVDCC_a1dsu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 144 0 0 85 29 25.4386 CACNA1D 0 genome.wustl.edu 37 3 53844236 53844236 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 53844236 53844236 A G SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6163 p.T2055A 0.991 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 105 0 0 57 12 17.3913 CHDH 0 genome.wustl.edu 37 3 53851805 53851805 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 53851805 53851805 T C SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.1784 p.*595 0.901 NULL pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 55 0 0 43 6 12.2449 CHDH 0 genome.wustl.edu 37 3 53856520 53856520 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 53856520 53856520 T C SNP CHDH ENST00000315251 human ensembl 74_37 -1 known missense c.853 p.R285G 0.917 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 74 0 0 52 19 26.7606 CACNA2D3 0 genome.wustl.edu 37 3 54661852 54661852 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 54661852 54661852 A G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.1002 p.G334 0.993 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 29 0 0 21 7 25 CACNA2D3 0 genome.wustl.edu 37 3 54919520 54919520 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 54919520 54919520 T C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.1963 p.Y655H 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 36 0 0 35 4 10.2564 LRTM1 0 genome.wustl.edu 37 3 54959015 54959015 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 54959015 54959015 A G SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known silent c.235 p.L79 0.989 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 90 0 0 60 17 22.0779 WNT5A 0 genome.wustl.edu 37 3 55513396 55513396 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 55513396 55513396 A G SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.337 p.W113R 0.999 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 111 0 0 85 24 22.0183 FAM208A 0 genome.wustl.edu 37 3 56681185 56681185 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 56681185 56681185 A G SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.1580 p.I527T 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 200 0 0 137 29 17.4699 FLNB 0 genome.wustl.edu 37 3 58110079 58110079 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58110079 58110079 A G SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3745 p.T1249A 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 121 0 0 101 15 12.931 FLNB 0 genome.wustl.edu 37 3 58131754 58131754 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58131754 58131754 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.5532 p.I1844 0.090 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 141 0 0 95 27 22.1311 ABHD6 0 genome.wustl.edu 37 3 58260523 58260523 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58260523 58260523 G A SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known missense c.662 p.R221H 1.000 pfam_Ndr pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 272 0 0 177 49 21.6814 FAM3D 0 genome.wustl.edu 37 3 58639425 58639425 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58639425 58639425 T C SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known missense c.97 p.T33A 0.031 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 255 2 0.77821 180 44 19.6429 C3orf67 0 genome.wustl.edu 37 3 58870331 58870331 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58870331 58870331 T C SNP C3orf67 ENST00000482387 human ensembl 74_37 -1 known missense c.280 p.T94A 1.000 NULL NULL - no_errors C3orf67 HGNC ENSG00000163689 352 0 0 226 50 18.1159 PTPRG 0 genome.wustl.edu 37 3 61975397 61975397 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 61975397 61975397 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.289 p.E97K 0.618 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 101 0 0 76 20 20.8333 THOC7 0 genome.wustl.edu 37 3 63824156 63824156 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 63824156 63824156 T C SNP THOC7 ENST00000295899 human ensembl 74_37 -1 known missense c.157 p.M53V 1.000 pfam_THOC7/Mft1 pfam_THOC7/Mft1 - no_errors THOC7 HGNC ENSG00000163634 155 0 0 112 22 16.4179 ATXN7 0 genome.wustl.edu 37 3 63898589 63898589 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 63898589 63898589 T C SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known silent c.315 p.P105 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 55 0 0 45 12 21.0526 ATXN7 0 genome.wustl.edu 37 3 63976414 63976414 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 63976414 63976414 T C SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.1561 p.F521L 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 213 0 0 131 28 17.6101 PRICKLE2 0 genome.wustl.edu 37 3 64085149 64085149 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 64085149 64085149 G A SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.2113 p.R705C 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 98 0 0 92 26 22.0339 ADAMTS9 0 genome.wustl.edu 37 3 64547309 64547309 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 64547309 64547309 T C SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.4643 p.D1548G 0.068 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 197 0 0 139 21 13.125 ADAMTS9 0 genome.wustl.edu 37 3 64619438 64619438 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 64619438 64619438 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known silent c.1974 p.D658 0.030 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 358 0 0 210 60 22.2222 ADAMTS9 0 genome.wustl.edu 37 3 64636769 64636769 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 64636769 64636769 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.1387 p.A463T 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 173 0 0 106 25 19.084 MAGI1 0 genome.wustl.edu 37 3 65342381 65342381 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 65342381 65342381 C A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.4061 p.R1354M 0.806 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 76 0 0 50 17 25.3731 FAM19A4 0 genome.wustl.edu 37 3 68929977 68929977 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 68929977 68929977 A G SNP FAM19A4 ENST00000295569 human ensembl 74_37 -1 known missense c.34 p.S12P 0.794 NULL pfam_Chemokine-like_FAM19A2 - no_errors FAM19A4 HGNC ENSG00000163377 67 0 0 67 18 21.1765 MITF 0 genome.wustl.edu 37 3 69985838 69985838 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 69985838 69985838 G A SNP MITF ENST00000394348 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MITF HGNC ENSG00000187098 64 0 0 53 9 14.5161 FOXP1 0 genome.wustl.edu 37 3 71247404 71247404 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 71247404 71247404 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.129 p.A43 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 157 0 0 85 25 22.7273 EIF4E3 0 genome.wustl.edu 37 3 71739244 71739244 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 71739244 71739244 G A SNP EIF4E3 ENST00000425534 human ensembl 74_37 -1 known missense c.545 p.A182V 1.000 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E3 HGNC ENSG00000163412 145 1 0.684932 114 30 20.8333 EIF4E3 0 genome.wustl.edu 37 3 71748797 71748797 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 71748797 71748797 A G SNP EIF4E3 ENST00000425534 human ensembl 74_37 -1 known silent c.312 p.Y104 0.990 pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E3 HGNC ENSG00000163412 309 0 0 214 41 16.0784 SHQ1 0 genome.wustl.edu 37 3 72799389 72799389 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 72799389 72799389 A G SNP SHQ1 ENST00000468371 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors SHQ1 HGNC ENSG00000144736 170 0 0 100 24 19.3548 PDZRN3 0 genome.wustl.edu 37 3 73433573 73433573 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 73433573 73433573 T C SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2144 p.Y715C 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 46 0 0 30 9 23.0769 ROBO2 0 genome.wustl.edu 37 3 77617497 77617497 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 77617497 77617497 G T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1883 p.R628M 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 151 0 0 98 19 16.2393 SSUH2 0 genome.wustl.edu 37 3 8671348 8671348 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 8671348 8671348 A G SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known splice_site c.588+2 e7+2 1.000 - - - no_errors SSUH2 HGNC ENSG00000125046 153 0 0 133 12 8.27586 VGLL3 0 genome.wustl.edu 37 3 87017791 87017791 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 87017791 87017791 C T SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.886 p.G296R 1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 91 0 0 56 16 22.2222 PROS1 0 genome.wustl.edu 37 3 93598107 93598107 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 93598107 93598107 C T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1544 p.R515H 0.978 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 218 0 0 142 32 18.3908 PROS1 0 genome.wustl.edu 37 3 93615522 93615522 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 93615522 93615522 C T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.863 p.C288Y 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 244 0 0 132 40 23.2558 ARL13B 0 genome.wustl.edu 37 3 93754252 93754252 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 93754252 93754252 T C SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.458 p.V153A 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 216 0 0 130 43 24.8555 SETD5 0 genome.wustl.edu 37 3 9488951 9488951 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 9488951 9488951 A C SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.1742 p.Q581P 0.541 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 366 0 0 243 52 17.6271 MTHFD2P1 0 genome.wustl.edu 37 3 95373915 95373915 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 95373915 95373915 C T SNP MTHFD2P1 ENST00000494840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MTHFD2P1 HGNC ENSG00000244681 8 0 0 6 4 40 EPHA6 0 genome.wustl.edu 37 3 97367155 97367155 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 97367155 97367155 A G SNP EPHA6 ENST00000502694 human ensembl 74_37 +1 known missense c.986 p.N329S 0.202 superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EPHA6 HGNC ENSG00000080224 75 0 0 74 13 14.9425 EPHA6 0 genome.wustl.edu 37 3 97439147 97439147 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 97439147 97439147 G A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2827 p.A943T 0.984 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 110 0 0 82 13 13.6842 CRYBG3 0 genome.wustl.edu 37 3 97662280 97662280 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 97662280 97662280 A G SNP CRYBG3 ENST00000485253 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYBG3 HGNC ENSG00000080200 13 0 0 10 4 28.5714 CPNE9 0 genome.wustl.edu 37 3 9768398 9768398 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 9768398 9768398 T C SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.1394 p.M465T 1.000 smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 151 0 0 108 31 22.3022 BRPF1 0 genome.wustl.edu 37 3 9775910 9775910 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 9775910 9775910 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.86 p.R29Q 1.000 pfscan_Znf_C2H2 pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 135 0 0 95 30 24 OR5H15 0 genome.wustl.edu 37 3 97888382 97888382 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 97888382 97888382 T C SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.839 p.V280A 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 201 0 0 128 16 11.1111 GPR15 0 genome.wustl.edu 37 3 98251737 98251737 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 98251737 98251737 G A SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.860 p.S287N 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 153 0 0 103 23 18.254 ARPC4-TTLL3 0 genome.wustl.edu 37 3 9841903 9841903 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 9841903 9841903 A G SNP ARPC4-TTLL3 ENST00000397256 human ensembl 74_37 +1 known missense c.157 p.I53V 1.000 pfam_ARPC4 pfam_TTL/TTLL_fam,pfam_ARPC4 - no_errors ARPC4-TTLL3 HGNC ENSG00000250151 68 0 0 43 10 18.8679 CRELD1 0 genome.wustl.edu 37 3 9982597 9982597 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 9982597 9982597 G A SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.524 p.R175Q 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 65 0 0 46 17 26.9841 ADH4 0 genome.wustl.edu 37 4 100052676 100052676 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 100052676 100052676 A G SNP ADH4 ENST00000423445 human ensembl 74_37 -1 known silent c.879 p.C293 0.017 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ENSG00000198099 112 0 0 78 10 11.3636 ADH6 0 genome.wustl.edu 37 4 100128683 100128683 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 100128683 100128683 A G SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known missense c.884 p.V295A 0.003 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 94 0 0 71 14 16.4706 TRMT10A 0 genome.wustl.edu 37 4 100479326 100479326 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 100479326 100479326 T C SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known silent c.228 p.R76 0.995 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 164 0 0 117 24 17.0213 DNAJB14 0 genome.wustl.edu 37 4 100844195 100844195 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 100844195 100844195 A G SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known splice_site c.451+2 e3+2 1.000 - - - no_errors DNAJB14 HGNC ENSG00000164031 63 0 0 48 19 28.3582 DDIT4L 0 genome.wustl.edu 37 4 101111136 101111136 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 101111136 101111136 A G SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.5 p.V2A 1.000 NULL pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 94 0 0 71 9 11.25 CENPE 0 genome.wustl.edu 37 4 104104378 104104378 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 104104378 104104378 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.813 p.K271 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 124 0 0 80 22 21.5686 ZNF518B 0 genome.wustl.edu 37 4 10445841 10445841 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 10445841 10445841 A G SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.2112 p.S704 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 235 0 0 164 42 20.3883 ZNF518B 0 genome.wustl.edu 37 4 10446888 10446888 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 10446888 10446888 A G SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.1065 p.G355 0.089 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 313 0 0 222 58 20.7143 TET2 0 genome.wustl.edu 37 4 106156249 106156249 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 106156249 106156249 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1150 p.S384G 0.933 NULL NULL - no_errors TET2 HGNC ENSG00000168769 208 0 0 144 39 21.3115 NPNT 0 genome.wustl.edu 37 4 106848587 106848587 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 106848587 106848587 T C SNP NPNT ENST00000379987 human ensembl 74_37 +1 known splice_site c.265+2 e3+2 1.000 - - - no_errors NPNT HGNC ENSG00000168743 61 0 0 42 11 20.7547 PAPSS1 0 genome.wustl.edu 37 4 108622349 108622349 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 108622349 108622349 A G SNP PAPSS1 ENST00000265174 human ensembl 74_37 -1 known silent c.153 p.R51 0.997 pfam_APS_kinase,superfamily_P-loop_NTPase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 249 0 0 185 41 18.1416 HADH 0 genome.wustl.edu 37 4 108940769 108940769 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 108940769 108940769 C T SNP HADH ENST00000403312 human ensembl 74_37 +1 known nonsense c.670 p.R224* 1.000 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 300 0 0 223 32 12.549 LEF1 0 genome.wustl.edu 37 4 109086392 109086392 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 109086392 109086392 T C SNP LEF1 ENST00000510135 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LEF1 HGNC ENSG00000138795 104 0 0 59 26 30.5882 RPL34 0 genome.wustl.edu 37 4 109546411 109546411 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 109546411 109546411 T C SNP RPL34 ENST00000394668 human ensembl 74_37 +1 known splice_site c.354+2 e4+2 0.015 - - - no_errors RPL34 HGNC ENSG00000109475 19 0 0 12 7 36.8421 ETNPPL 0 genome.wustl.edu 37 4 109675819 109675819 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 109675819 109675819 T G SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.458 p.K153T 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 249 0 0 134 31 18.7879 GAR1 0 genome.wustl.edu 37 4 110739135 110739135 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 110739135 110739135 T C SNP GAR1 ENST00000226796 human ensembl 74_37 +1 known silent c.258 p.C86 1.000 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors GAR1 HGNC ENSG00000109534 180 0 0 138 24 14.8148 EGF 0 genome.wustl.edu 37 4 110909752 110909752 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 110909752 110909752 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.2621 p.C874Y 1.000 pirsf_Pro-epidermal_GF,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 276 0 0 198 48 19.5122 ENPEP 0 genome.wustl.edu 37 4 111398135 111398135 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 111398135 111398135 A G SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.565 p.T189A 0.999 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 160 0 0 104 20 16.129 ENPEP 0 genome.wustl.edu 37 4 111409702 111409702 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 111409702 111409702 T C SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.650 p.I217T 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 38 0 0 39 10 20.4082 ALPK1 0 genome.wustl.edu 37 4 113352170 113352170 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 113352170 113352170 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.1467 p.C489 0.929 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 100 0 0 95 23 19.4915 C4orf21 0 genome.wustl.edu 37 4 113540080 113540080 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 113540080 113540080 T C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.1118 p.Q373R 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 236 0 0 186 25 11.8483 LARP7 0 genome.wustl.edu 37 4 113568024 113568024 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 113568024 113568024 T C SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known silent c.465 p.S155 0.975 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 274 0 0 178 47 20.8889 PRSS12 0 genome.wustl.edu 37 4 119203203 119203203 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 119203203 119203203 A G SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.2516 p.V839A 0.925 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 161 0 0 102 29 22.1374 PRSS12 0 genome.wustl.edu 37 4 119216958 119216958 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 119216958 119216958 T A SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.1891 p.I631F 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 175 0 0 98 24 19.6721 PRDM5 0 genome.wustl.edu 37 4 121732558 121732558 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 121732558 121732558 A G SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known silent c.912 p.C304 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 122 0 0 72 22 23.4043 KIAA1109 0 genome.wustl.edu 37 4 123141513 123141513 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123141513 123141513 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.2501 p.C834Y 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 132 0 0 92 20 17.8571 KIAA1109 0 genome.wustl.edu 37 4 123156180 123156180 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123156180 123156180 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known splice_site c.3574+2 e25+2 1.000 - - - no_errors KIAA1109 HGNC ENSG00000138688 193 0 0 120 28 18.9189 KIAA1109 0 genome.wustl.edu 37 4 123161495 123161495 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123161495 123161495 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.4658 p.V1553A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 178 0 0 102 16 13.5593 KIAA1109 0 genome.wustl.edu 37 4 123170828 123170828 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123170828 123170828 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.5701 p.T1901A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 116 0 0 82 16 16.3265 KIAA1109 0 genome.wustl.edu 37 4 123255605 123255605 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123255605 123255605 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.11753 p.D3918G 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 157 0 0 124 32 20.5128 ADAD1 0 genome.wustl.edu 37 4 123342484 123342484 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123342484 123342484 A G SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.1556 p.N519S 0.998 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 132 0 0 102 22 17.7419 SPATA5 0 genome.wustl.edu 37 4 123949496 123949496 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123949496 123949496 A G SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known silent c.2025 p.T675 0.971 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 207 0 0 154 36 18.9474 ANKRD50 0 genome.wustl.edu 37 4 125591594 125591594 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 125591594 125591594 A G SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known silent c.2838 p.G946 0.031 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 158 0 0 133 36 21.3018 FAT4 0 genome.wustl.edu 37 4 126240723 126240723 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126240723 126240723 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.3157 p.Y1053H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 307 0 0 210 61 22.5092 FAT4 0 genome.wustl.edu 37 4 126328057 126328057 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126328057 126328057 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5330 p.Y1777C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 275 0 0 160 42 20.7921 FAT4 0 genome.wustl.edu 37 4 126336235 126336235 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126336235 126336235 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.6117 p.I2039 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 427 0 0 310 80 20.5128 FAT4 0 genome.wustl.edu 37 4 126389698 126389698 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126389698 126389698 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.11931 p.S3977 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 112 0 0 97 18 15.6522 FAT4 0 genome.wustl.edu 37 4 126398439 126398439 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126398439 126398439 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.12423 p.G4141 0.963 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 316 0 0 210 38 15.3226 FAT4 0 genome.wustl.edu 37 4 126400953 126400953 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126400953 126400953 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.12531 p.C4177 0.001 superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 60 0 0 59 11 15.7143 FAT4 0 genome.wustl.edu 37 4 126411790 126411790 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126411790 126411790 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13813 p.I4605V 0.999 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 103 0 0 90 18 16.6667 INTU 0 genome.wustl.edu 37 4 128554306 128554306 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 128554306 128554306 T C SNP INTU ENST00000335251 human ensembl 74_37 +1 known silent c.117 p.G39 0.239 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 143 1 0.694444 94 21 18.2609 INTU 0 genome.wustl.edu 37 4 128627893 128627893 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 128627893 128627893 A G SNP INTU ENST00000335251 human ensembl 74_37 +1 known silent c.2040 p.L680 0.002 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 183 1 0.543478 146 31 17.5141 INTU 0 genome.wustl.edu 37 4 128632194 128632194 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 128632194 128632194 A G SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2496 p.I832M 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 182 0 0 117 42 26.4151 PLK4 0 genome.wustl.edu 37 4 128814700 128814700 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 128814700 128814700 A G SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known missense c.2355 p.I785M 0.130 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 155 0 0 98 28 22.2222 SCLT1 0 genome.wustl.edu 37 4 129878253 129878253 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 129878253 129878253 T C SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known silent c.1074 p.E358 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 158 0 0 126 23 15.4362 PCDH10 0 genome.wustl.edu 37 4 134073171 134073171 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 134073171 134073171 A G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1876 p.M626V 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 77 0 0 55 11 16.6667 BOD1L1 0 genome.wustl.edu 37 4 13601895 13601895 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 13601895 13601895 T A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6629 p.K2210M 0.956 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 68 0 0 56 18 24.3243 BOD1L1 0 genome.wustl.edu 37 4 13602539 13602539 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 13602539 13602539 T C SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.5985 p.E1995 0.010 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 93 0 0 64 15 18.9873 PCDH18 0 genome.wustl.edu 37 4 138451686 138451686 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 138451686 138451686 G T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.1557 p.T519 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 377 0 0 231 62 21.1604 MAML3 0 genome.wustl.edu 37 4 140810714 140810714 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 140810714 140810714 T C SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.1876 p.N626D 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 258 0 0 170 44 20.5607 CLGN 0 genome.wustl.edu 37 4 141311858 141311858 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 141311858 141311858 T C SNP CLGN ENST00000325617 human ensembl 74_37 -1 known missense c.1676 p.K559R 1.000 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 226 0 0 137 33 19.4118 OTUD4 0 genome.wustl.edu 37 4 146059468 146059468 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 146059468 146059468 C T SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.2459 p.G820E 0.701 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 145 0 0 102 30 22.7273 MMAA 0 genome.wustl.edu 37 4 146560420 146560420 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 146560420 146560420 G A SNP MMAA ENST00000281317 human ensembl 74_37 +1 known silent c.129 p.P43 0.000 NULL pfam_ArgK,pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 258 0 0 189 58 23.4818 SLC10A7 0 genome.wustl.edu 37 4 147442959 147442959 + RNA SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 147442959 147442959 T A SNP SLC10A7 ENST00000507560 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC10A7 HGNC ENSG00000120519 25 0 0 16 4 20 POU4F2 0 genome.wustl.edu 37 4 147561397 147561397 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 147561397 147561397 G T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.667 p.A223S 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 9 0 0 12 4 25 NR3C2 0 genome.wustl.edu 37 4 149357029 149357029 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 149357029 149357029 A G SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.984 p.S328 0.983 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 141 0 0 102 25 19.685 MAB21L2 0 genome.wustl.edu 37 4 151504269 151504269 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 151504269 151504269 A G SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.88 p.T30A 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 42 0 0 43 6 12.2449 FBXW7 0 genome.wustl.edu 37 4 153247360 153247360 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 153247360 153247360 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1442 p.A481V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 105 0 0 87 19 17.9245 FBXW7 0 genome.wustl.edu 37 4 153273753 153273753 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 153273753 153273753 A G SNP FBXW7 ENST00000263981 human ensembl 74_37 -1 known missense c.130 p.Y44H 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 76 0 0 77 10 11.4943 RNF175 0 genome.wustl.edu 37 4 154636790 154636790 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 154636790 154636790 T C SNP RNF175 ENST00000347063 human ensembl 74_37 -1 known missense c.655 p.T219A 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF175 HGNC ENSG00000145428 51 0 0 39 4 9.30233 CC2D2A 0 genome.wustl.edu 37 4 15511838 15511838 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 15511838 15511838 C T SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known missense c.515 p.A172V 0.003 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 82 0 0 62 10 13.8889 PLRG1 0 genome.wustl.edu 37 4 155468901 155468901 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 155468901 155468901 G A SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.221 p.T74M 0.009 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 169 0 0 97 20 17.094 NPY2R 0 genome.wustl.edu 37 4 156135287 156135287 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 156135287 156135287 A T SNP NPY2R ENST00000329476 human ensembl 74_37 +1 known missense c.196 p.I66F 0.637 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors NPY2R HGNC ENSG00000185149 144 0 0 95 24 20.1681 GUCY1B3 0 genome.wustl.edu 37 4 156721148 156721148 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 156721148 156721148 C T SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.1097 p.T366I 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 103 0 0 62 20 24.3902 PDGFC 0 genome.wustl.edu 37 4 157684178 157684178 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 157684178 157684178 T C SNP PDGFC ENST00000504672 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors PDGFC HGNC ENSG00000145431 56 0 0 48 12 20 PDGFC 0 genome.wustl.edu 37 4 157693895 157693895 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 157693895 157693895 A G SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.646 p.Y216H 0.998 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 114 0 0 92 16 14.8148 CD38 0 genome.wustl.edu 37 4 15780076 15780076 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 15780076 15780076 A G SNP CD38 ENST00000226279 human ensembl 74_37 +1 known silent c.39 p.K13 0.002 NULL pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 170 0 0 126 22 14.8649 FAM198B 0 genome.wustl.edu 37 4 159091420 159091420 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 159091420 159091420 T A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.990 p.K330N 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 87 0 0 74 13 14.9425 RXFP1 0 genome.wustl.edu 37 4 159559213 159559213 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 159559213 159559213 T C SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.1025 p.L342P 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 147 0 0 82 32 28.0702 RXFP1 0 genome.wustl.edu 37 4 159569818 159569818 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 159569818 159569818 A T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.1924 p.I642L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 149 0 0 72 22 23.4043 FNIP2 0 genome.wustl.edu 37 4 159780291 159780291 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 159780291 159780291 A G SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.1009 p.S337G 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 100 0 0 70 24 25.5319 TAPT1 0 genome.wustl.edu 37 4 16215413 16215413 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 16215413 16215413 C T SNP TAPT1 ENST00000405303 human ensembl 74_37 -1 known missense c.308 p.R103Q 1.000 NULL pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 81 0 0 64 15 18.9873 FSTL5 0 genome.wustl.edu 37 4 162376252 162376252 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 162376252 162376252 G T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1745 p.P582H 0.819 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 94 0 0 71 6 7.79221 FSTL5 0 genome.wustl.edu 37 4 162459394 162459394 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 162459394 162459394 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.1236 p.T412 0.979 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 482 1 0.207039 312 71 18.5379 FSTL5 0 genome.wustl.edu 37 4 162463689 162463689 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 162463689 162463689 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1172 p.L391P 0.993 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 150 0 0 133 28 17.3913 FSTL5 0 genome.wustl.edu 37 4 162697185 162697185 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 162697185 162697185 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.451 p.M151V 0.565 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 77 0 0 50 11 18.0328 TKTL2 0 genome.wustl.edu 37 4 164393014 164393014 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 164393014 164393014 T G SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.1873 p.M625L 1.000 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 147 0 0 83 15 15.3061 TKTL2 0 genome.wustl.edu 37 4 164394169 164394169 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 164394169 164394169 T C SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.718 p.T240A 1.000 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 265 0 0 232 63 21.3559 TMA16 0 genome.wustl.edu 37 4 164415857 164415857 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 164415857 164415857 T C SNP TMA16 ENST00000511562 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMA16 HGNC ENSG00000198498 43 0 0 25 6 19.3548 KLHL2 0 genome.wustl.edu 37 4 166160048 166160048 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 166160048 166160048 A G SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.378 p.V126 0.594 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 177 1 0.561798 135 15 10 MSMO1 0 genome.wustl.edu 37 4 166254547 166254547 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 166254547 166254547 A G SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known missense c.25 p.I9V 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 197 0 0 130 28 17.7215 DDX60 0 genome.wustl.edu 37 4 169146804 169146804 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 169146804 169146804 C A SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.4557 p.E1519D 0.034 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 142 0 0 82 25 23.3645 DDX60L 0 genome.wustl.edu 37 4 169325220 169325220 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 169325220 169325220 A G SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.3251 p.L1084S 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 8 0 0 9 3 25 PALLD 0 genome.wustl.edu 37 4 169845505 169845505 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 169845505 169845505 T C SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.3107 p.V1036A 0.239 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 120 0 0 82 14 14.5833 NEK1 0 genome.wustl.edu 37 4 170498105 170498105 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 170498105 170498105 T C SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.994 p.K332E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 58 0 0 30 10 25 MFAP3L 0 genome.wustl.edu 37 4 170913013 170913013 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 170913013 170913013 T C SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known missense c.746 p.N249S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 149 0 0 121 29 19.3333 AADAT 0 genome.wustl.edu 37 4 170983111 170983111 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 170983111 170983111 C T SNP AADAT ENST00000509167 human ensembl 74_37 -1 known missense c.1180 p.D394N 0.009 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 145 0 0 94 29 23.5772 GALNTL6 0 genome.wustl.edu 37 4 173232782 173232782 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 173232782 173232782 A G SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.265 p.K89E 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 195 0 0 176 42 19.2661 GALNTL6 0 genome.wustl.edu 37 4 173873306 173873306 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 173873306 173873306 A C SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.1268 p.K423T 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 92 0 0 51 8 13.5593 GALNT7 0 genome.wustl.edu 37 4 174219377 174219377 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 174219377 174219377 T C SNP GALNT7 ENST00000265000 human ensembl 74_37 +1 known silent c.1077 p.S359 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 83 0 0 57 15 20.8333 ADAM29 0 genome.wustl.edu 37 4 175897485 175897485 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 175897485 175897485 G A SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.809 p.C270Y 0.006 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 345 0 0 248 76 23.4568 TENM3 0 genome.wustl.edu 37 4 183603166 183603166 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 183603166 183603166 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.2034 p.N678 0.966 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 84 0 0 67 23 25.5556 TENM3 0 genome.wustl.edu 37 4 183664498 183664498 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 183664498 183664498 T A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3555 p.S1185R 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 102 0 0 81 23 22.1154 TENM3 0 genome.wustl.edu 37 4 183675540 183675540 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 183675540 183675540 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.4020 p.V1340 0.095 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 26 0 0 12 4 25 TENM3 0 genome.wustl.edu 37 4 183710405 183710405 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 183710405 183710405 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.5464 p.T1822A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 33 0 0 18 7 28 TENM3 0 genome.wustl.edu 37 4 183721189 183721189 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 183721189 183721189 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.7785 p.D2595 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 9 0 0 0 5 100 PRIMPOL 0 genome.wustl.edu 37 4 185593425 185593425 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 185593425 185593425 T C SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known missense c.655 p.F219L 0.735 pfam_DNA_primase_S pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 214 0 0 131 35 21.0843 HELT 0 genome.wustl.edu 37 4 185940960 185940960 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 185940960 185940960 A G SNP HELT ENST00000338875 human ensembl 74_37 +1 known silent c.447 p.A149 0.919 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 33 0 0 20 9 31.0345 SNX25 0 genome.wustl.edu 37 4 186168475 186168475 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 186168475 186168475 T C SNP SNX25 ENST00000506896 human ensembl 74_37 +1 known rna NULL NULL 0.792 - - - no_errors SNX25 HGNC ENSG00000109762 289 0 0 239 47 16.4336 SNX25 0 genome.wustl.edu 37 4 186274723 186274723 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 186274723 186274723 A G SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known missense c.2059 p.M687V 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 299 0 0 216 52 19.403 PDLIM3 0 genome.wustl.edu 37 4 186435463 186435463 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 186435463 186435463 T C SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known missense c.359 p.N120S 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 236 0 0 164 25 13.2275 SORBS2 0 genome.wustl.edu 37 4 186533064 186533064 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 186533064 186533064 C A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.2954 p.R985I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 128 0 0 105 15 12.5 SORBS2 0 genome.wustl.edu 37 4 186544622 186544622 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 186544622 186544622 T C SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1949 p.H650R 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 126 1 0.787402 79 32 28.8288 TLR3 0 genome.wustl.edu 37 4 187000110 187000110 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 187000110 187000110 A G SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known silent c.558 p.L186 0.009 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 104 0 0 69 21 23.3333 TLR3 0 genome.wustl.edu 37 4 187005313 187005313 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 187005313 187005313 C T SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.2473 p.P825S 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 148 0 0 85 17 16.6667 FAT1 0 genome.wustl.edu 37 4 187549306 187549306 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 187549306 187549306 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known splice_site c.4810+2 e8+2 1.000 - - - no_errors FAT1 HGNC ENSG00000083857 34 0 0 22 5 18.5185 HAUS3 0 genome.wustl.edu 37 4 2233811 2233811 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 2233811 2233811 T A SNP HAUS3 ENST00000243706 human ensembl 74_37 -1 known missense c.1655 p.D552V 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 107 0 0 73 9 10.9756 GPR125 0 genome.wustl.edu 37 4 22425958 22425958 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 22425958 22425958 A G SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.1461 p.V487 0.830 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 196 0 0 151 32 17.4863 GPR125 0 genome.wustl.edu 37 4 22449096 22449096 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 22449096 22449096 C A SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.512 p.G171V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 133 0 0 92 25 21.3675 CCDC149 0 genome.wustl.edu 37 4 24875302 24875302 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 24875302 24875302 C T SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known splice_site c.264+1 e3+1 1.000 - - - no_errors CCDC149 HGNC ENSG00000181982 104 0 0 68 19 21.8391 SLC34A2 0 genome.wustl.edu 37 4 25671295 25671295 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 25671295 25671295 A T SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.662 p.D221V 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 261 0 0 180 40 18.1818 SLC34A2 0 genome.wustl.edu 37 4 25677873 25677873 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 25677873 25677873 T A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known nonsense c.1575 p.Y525* 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 174 0 0 105 29 21.6418 SEL1L3 0 genome.wustl.edu 37 4 25806334 25806334 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 25806334 25806334 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known silent c.1605 p.G535 0.999 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 106 0 0 85 11 11.4583 PCDH7 0 genome.wustl.edu 37 4 30725028 30725028 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 30725028 30725028 A G SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1984 p.T662A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 198 0 0 143 32 18.2857 HTT 0 genome.wustl.edu 37 4 3109036 3109036 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 3109036 3109036 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.633 p.P211 0.186 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 165 0 0 113 27 19.2857 HTT 0 genome.wustl.edu 37 4 3190708 3190708 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 3190708 3190708 A C SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5256 p.L1752F 0.068 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 243 0 0 161 47 22.5962 HTT 0 genome.wustl.edu 37 4 3219639 3219639 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 3219639 3219639 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.7202 p.R2401H 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 139 0 0 95 26 21.4876 RGS12 0 genome.wustl.edu 37 4 3319065 3319065 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 3319065 3319065 T C SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1168 p.Y390H 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 94 0 0 72 23 24.2105 TBC1D1 0 genome.wustl.edu 37 4 38023271 38023271 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 38023271 38023271 A G SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.1142 p.K381R 0.000 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 23 0 0 18 4 18.1818 KLB 0 genome.wustl.edu 37 4 39409016 39409016 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 39409016 39409016 T C SNP KLB ENST00000257408 human ensembl 74_37 +1 known silent c.447 p.Y149 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 347 0 0 218 44 16.7939 UBE2K 0 genome.wustl.edu 37 4 39779998 39779998 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 39779998 39779998 T G SNP UBE2K ENST00000261427 human ensembl 74_37 +1 known missense c.547 p.L183V 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBQ-conjugat_E2,pfam_UBA/Ts_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBQ-conjugat_E2 - no_errors UBE2K HGNC ENSG00000078140 135 0 0 97 26 21.1382 PDS5A 0 genome.wustl.edu 37 4 39899999 39899999 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 39899999 39899999 A G SNP PDS5A ENST00000503396 human ensembl 74_37 -1 known missense c.1780 p.S594P 0.057 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 19 0 0 11 3 21.4286 CHRNA9 0 genome.wustl.edu 37 4 40356386 40356386 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 40356386 40356386 A G SNP CHRNA9 ENST00000310169 human ensembl 74_37 +1 known missense c.1289 p.Y430C 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 131 0 0 93 24 20.5128 ABCA11P 0 genome.wustl.edu 37 4 420498 420498 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 420498 420498 A G SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors ABCA11P HGNC ENSG00000251595 116 0 0 71 23 24.4681 BEND4 0 genome.wustl.edu 37 4 42119623 42119623 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 42119623 42119623 T C SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.1517 p.N506S 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 19 0 0 18 6 25 OTOP1 0 genome.wustl.edu 37 4 4228315 4228315 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 4228315 4228315 G A SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known silent c.277 p.L93 0.998 NULL pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 30 0 0 14 4 22.2222 GRXCR1 0 genome.wustl.edu 37 4 42895333 42895333 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 42895333 42895333 G T SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.50 p.R17L 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 145 1 0.684932 93 19 16.9643 ZNF721 0 genome.wustl.edu 37 4 436007 436007 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 436007 436007 T A SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.2249 p.D750V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 72 0 0 46 11 19.2982 YIPF7 0 genome.wustl.edu 37 4 44638028 44638028 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 44638028 44638028 C T SNP YIPF7 ENST00000332990 human ensembl 74_37 -1 known missense c.263 p.G88E 1.000 NULL pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 75 0 0 46 8 14.8148 NIPAL1 0 genome.wustl.edu 37 4 48036924 48036924 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 48036924 48036924 A G SNP NIPAL1 ENST00000295461 human ensembl 74_37 +1 known missense c.488 p.N163S 1.000 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 182 0 0 135 22 14.0127 TEC 0 genome.wustl.edu 37 4 48173385 48173385 + Nonsense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 48173385 48173385 C A SNP TEC ENST00000381501 human ensembl 74_37 -1 known nonsense c.325 p.E109* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,prints_Znf_Btk_motif pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 122 0 0 87 9 9.375 FRYL 0 genome.wustl.edu 37 4 48530056 48530056 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 48530056 48530056 T C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.7072 p.T2358A 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 136 0 0 84 18 17.6471 FRYL 0 genome.wustl.edu 37 4 48563635 48563635 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 48563635 48563635 A G SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.3715 p.F1239L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 129 0 0 99 17 14.6552 CWH43 0 genome.wustl.edu 37 4 48990684 48990684 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 48990684 48990684 T C SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known silent c.234 p.I78 0.088 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 53 0 0 50 10 16.6667 CWH43 0 genome.wustl.edu 37 4 49046852 49046852 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 49046852 49046852 G A SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.1853 p.R618Q 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 280 0 0 162 51 23.9437 USP46 0 genome.wustl.edu 37 4 53468063 53468063 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 53468063 53468063 G A SNP USP46 ENST00000441222 human ensembl 74_37 -1 known missense c.880 p.R294C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 81 0 0 81 18 18.1818 SCFD2 0 genome.wustl.edu 37 4 54231560 54231560 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 54231560 54231560 A G SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known silent c.549 p.D183 0.975 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 68 0 0 43 15 25.8621 FIP1L1 0 genome.wustl.edu 37 4 54245411 54245411 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 54245411 54245411 G A SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known silent c.150 p.R50 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 177 0 0 129 26 16.7742 STK32B 0 genome.wustl.edu 37 4 5461855 5461855 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 5461855 5461855 G A SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.809 p.R270H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 102 0 0 83 26 23.8532 C4orf6 0 genome.wustl.edu 37 4 5527092 5527092 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 5527092 5527092 A G SNP C4orf6 ENST00000195455 human ensembl 74_37 +1 known missense c.35 p.N12S 0.250 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 44 0 0 15 7 31.8182 EVC2 0 genome.wustl.edu 37 4 5578085 5578085 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 5578085 5578085 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.3154 p.A1052T 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 63 0 0 43 8 15.6863 SRD5A3 0 genome.wustl.edu 37 4 56236243 56236243 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 56236243 56236243 A G SNP SRD5A3 ENST00000264228 human ensembl 74_37 +1 known silent c.942 p.L314 0.003 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 333 0 0 222 53 19.2727 EXOC1 0 genome.wustl.edu 37 4 56763012 56763012 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 56763012 56763012 C T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.2083 p.R695C 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 85 0 0 74 22 22.9167 CEP135 0 genome.wustl.edu 37 4 56841097 56841097 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 56841097 56841097 G A SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.1435 p.A479T 0.003 superfamily_EB1_C superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 227 0 0 132 41 23.6994 AASDH 0 genome.wustl.edu 37 4 57220334 57220334 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 57220334 57220334 T C SNP AASDH ENST00000205214 human ensembl 74_37 -1 known silent c.1254 p.V418 0.790 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 138 0 0 108 22 16.9231 EVC 0 genome.wustl.edu 37 4 5731079 5731079 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 5731079 5731079 A G SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.346 p.K116E 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 118 0 0 89 20 18.3486 REST 0 genome.wustl.edu 37 4 57777024 57777024 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 57777024 57777024 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.220 p.A74T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 102 0 0 74 23 23.7113 REST 0 genome.wustl.edu 37 4 57777250 57777250 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 57777250 57777250 A G SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.446 p.D149G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 147 0 0 136 26 16.0494 CRMP1 0 genome.wustl.edu 37 4 5857879 5857879 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 5857879 5857879 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known nonsense c.811 p.Q271* 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 78 0 0 51 15 22.7273 LPHN3 0 genome.wustl.edu 37 4 62758502 62758502 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 62758502 62758502 A G SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1609 p.T537A 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 116 0 0 80 15 15.7895 EPHA5 0 genome.wustl.edu 37 4 66197715 66197715 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 66197715 66197715 T G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2984 p.D995A 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 131 0 0 100 10 9.09091 YTHDC1 0 genome.wustl.edu 37 4 69202829 69202829 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 69202829 69202829 G A SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known nonsense c.799 p.R267* 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 159 0 0 112 32 22.2222 TMPRSS11E 0 genome.wustl.edu 37 4 69343161 69343161 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 69343161 69343161 G A SNP TMPRSS11E ENST00000305363 human ensembl 74_37 +1 known missense c.782 p.R261Q 0.999 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11E HGNC ENSG00000087128 578 1 0.172712 422 121 22.2836 UGT2B10 0 genome.wustl.edu 37 4 69682128 69682128 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 69682128 69682128 T C SNP UGT2B10 ENST00000265403 human ensembl 74_37 +1 known missense c.391 p.S131P 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 158 0 0 134 30 18.2927 UGT2B10 0 genome.wustl.edu 37 4 69696589 69696589 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 69696589 69696589 A G SNP UGT2B10 ENST00000265403 human ensembl 74_37 +1 known missense c.1579 p.R527G 0.042 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 160 0 0 117 27 18.75 UGT2A3 0 genome.wustl.edu 37 4 69817054 69817054 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 69817054 69817054 T C SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known missense c.425 p.N142S 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 168 0 0 120 39 24.5283 CCDC96 0 genome.wustl.edu 37 4 7043037 7043037 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 7043037 7043037 C T SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known silent c.1629 p.R543 0.202 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 109 0 0 67 27 28.7234 GRPEL1 0 genome.wustl.edu 37 4 7062879 7062879 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 7062879 7062879 T C SNP GRPEL1 ENST00000264954 human ensembl 74_37 -1 known missense c.364 p.T122A 0.995 pfam_GrpE,prints_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL1 HGNC ENSG00000109519 207 1 0.480769 129 28 17.8344 CABS1 0 genome.wustl.edu 37 4 71201539 71201539 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 71201539 71201539 T C SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known silent c.783 p.D261 0.977 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 154 0 0 109 29 21.0145 MUC7 0 genome.wustl.edu 37 4 71346984 71346984 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 71346984 71346984 A G SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.523 p.T175A 0.000 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 210 0 0 160 23 12.5683 SLC4A4 0 genome.wustl.edu 37 4 72338848 72338848 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 72338848 72338848 G T SNP SLC4A4 ENST00000512686 human ensembl 74_37 +1 novel missense c.1932 p.E644D 0.223 NULL pfam_Band3_cytoplasmic_dom,pfam_HCO3_transpt_C,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 17 0 0 11 3 21.4286 ADAMTS3 0 genome.wustl.edu 37 4 73205379 73205379 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 73205379 73205379 A G SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.693 p.G231 0.001 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 249 1 0.4 191 45 19.0678 ANKRD17 0 genome.wustl.edu 37 4 73981536 73981536 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 73981536 73981536 A G SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known splice_site c.4284+2 e23+2 1.000 - - - no_errors ANKRD17 HGNC ENSG00000132466 195 0 0 171 28 14.0704 ANKRD17 0 genome.wustl.edu 37 4 74008406 74008406 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 74008406 74008406 A G SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.2036 p.V679A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 135 0 0 114 25 17.9856 CDKL2 0 genome.wustl.edu 37 4 76551133 76551133 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 76551133 76551133 T C SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known missense c.40 p.S14G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL2 HGNC ENSG00000138769 367 0 0 207 65 23.8971 G3BP2 0 genome.wustl.edu 37 4 76570767 76570767 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 76570767 76570767 T C SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known silent c.1296 p.R432 0.407 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 177 0 0 147 27 15.5172 SHROOM3 0 genome.wustl.edu 37 4 77661944 77661944 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 77661944 77661944 A G SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.2618 p.D873G 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 37 0 0 27 4 12.9032 SOWAHB 0 genome.wustl.edu 37 4 77817393 77817393 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 77817393 77817393 G A SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known missense c.1610 p.T537M 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 75 0 0 53 16 23.1884 AFAP1 0 genome.wustl.edu 37 4 7795427 7795427 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 7795427 7795427 T C SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1393 p.T465A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 208 0 0 162 33 16.9231 FRAS1 0 genome.wustl.edu 37 4 79205664 79205664 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 79205664 79205664 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.1361 p.C454Y 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 320 1 0.311526 210 58 21.6418 NAA11 0 genome.wustl.edu 37 4 80246583 80246583 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 80246583 80246583 T A SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known missense c.449 p.D150V 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 114 0 0 64 20 23.8095 SH3TC1 0 genome.wustl.edu 37 4 8229571 8229571 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 8229571 8229571 A G SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.2150 p.Y717C 0.995 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 77 0 0 37 18 32.7273 CDS1 0 genome.wustl.edu 37 4 85553014 85553014 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 85553014 85553014 G A SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known missense c.623 p.R208H 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 382 0 0 311 61 16.3978 CDS1 0 genome.wustl.edu 37 4 85569713 85569713 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 85569713 85569713 C T SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known silent c.1260 p.G420 0.806 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 98 0 0 82 19 18.8119 WDFY3 0 genome.wustl.edu 37 4 85660161 85660161 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 85660161 85660161 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known splice_site c.6574+2 e37+2 1.000 - - - no_errors WDFY3 HGNC ENSG00000163625 148 0 0 131 21 13.8158 WDFY3 0 genome.wustl.edu 37 4 85672710 85672710 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 85672710 85672710 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.5899 p.R1967W 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 180 1 0.552486 113 28 19.8582 WDFY3 0 genome.wustl.edu 37 4 85694043 85694043 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 85694043 85694043 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.4794 p.A1598 0.944 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 72 0 0 57 12 17.3913 WDFY3 0 genome.wustl.edu 37 4 85731422 85731422 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 85731422 85731422 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.1963 p.T655A 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 93 0 0 59 12 16.9014 MAPK10 0 genome.wustl.edu 37 4 86989018 86989018 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 86989018 86989018 A G SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.893 p.V298A 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 148 0 0 101 33 24.6269 GAK 0 genome.wustl.edu 37 4 870373 870373 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 870373 870373 T A SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.1999 p.I667F 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 64 0 0 47 12 20.339 PTPN13 0 genome.wustl.edu 37 4 87638237 87638237 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 87638237 87638237 A G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.1352 p.E451G 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 43 0 0 26 6 18.75 PTPN13 0 genome.wustl.edu 37 4 87672210 87672210 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 87672210 87672210 T C SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.3099 p.S1033 0.987 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 38 0 0 39 11 22 PTPN13 0 genome.wustl.edu 37 4 87679930 87679930 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 87679930 87679930 T C SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.3413 p.L1138S 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 174 0 0 130 22 14.4737 KLHL8 0 genome.wustl.edu 37 4 88099686 88099686 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 88099686 88099686 A G SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1039 p.F347L 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 216 0 0 164 30 15.4639 NUDT9 0 genome.wustl.edu 37 4 88363012 88363012 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 88363012 88363012 C T SNP NUDT9 ENST00000302174 human ensembl 74_37 +1 known missense c.475 p.R159W 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT9 HGNC ENSG00000170502 45 0 0 42 3 6.66667 SPARCL1 0 genome.wustl.edu 37 4 88414912 88414912 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 88414912 88414912 T C SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.1040 p.D347G 0.010 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 191 0 0 146 39 21.0811 HERC5 0 genome.wustl.edu 37 4 89425424 89425424 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 89425424 89425424 A G SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.2624 p.D875G 0.996 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 239 0 0 151 33 17.9348 HERC3 0 genome.wustl.edu 37 4 89608434 89608434 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 89608434 89608434 G A SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.2641 p.V881M 0.999 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 114 0 0 70 17 19.5402 GPRIN3 0 genome.wustl.edu 37 4 90169014 90169014 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 90169014 90169014 G A SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.2248 p.H750Y 1.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 250 0 0 194 37 16.0173 GPRIN3 0 genome.wustl.edu 37 4 90171194 90171194 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 90171194 90171194 T C SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.68 p.D23G 0.222 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 164 0 0 105 28 21.0526 MMRN1 0 genome.wustl.edu 37 4 90816310 90816310 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 90816310 90816310 C T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.188 p.A63V 0.093 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 107 0 0 74 23 23.7113 MMRN1 0 genome.wustl.edu 37 4 90849013 90849013 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 90849013 90849013 G A SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known silent c.1023 p.K341 0.900 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 307 0 0 220 32 12.6984 CCSER1 0 genome.wustl.edu 37 4 91230144 91230144 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 91230144 91230144 C T SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.709 p.R237W 0.025 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 147 0 0 100 32 24.2424 GRID2 0 genome.wustl.edu 37 4 94436447 94436447 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 94436447 94436447 T C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2078 p.M693T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 114 0 0 78 19 19.5876 GRID2 0 genome.wustl.edu 37 4 94436498 94436498 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 94436498 94436498 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2129 p.R710Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 164 1 0.606061 129 14 9.79021 ATOH1 0 genome.wustl.edu 37 4 94750593 94750593 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 94750593 94750593 G A SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known missense c.516 p.M172I 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 49 0 0 41 12 22.6415 HPGDS 0 genome.wustl.edu 37 4 95220654 95220654 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 95220654 95220654 G A SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known nonsense c.577 p.R193* 0.001 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 133 0 0 95 25 20.8333 HPGDS 0 genome.wustl.edu 37 4 95220656 95220656 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 95220656 95220656 T C SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known missense c.575 p.K192R 0.000 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 134 0 0 87 34 28.0992 PDLIM5 0 genome.wustl.edu 37 4 95506156 95506156 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 95506156 95506156 T C SNP PDLIM5 ENST00000380180 human ensembl 74_37 +1 known splice_site c.401+2 e5+2 1.000 - - - no_errors PDLIM5 HGNC ENSG00000163110 40 0 0 27 6 18.1818 SLC2A9 0 genome.wustl.edu 37 4 9836555 9836555 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 9836555 9836555 C T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.1369 p.V457I 0.984 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 75 0 0 56 12 17.6471 PPIP5K2 0 genome.wustl.edu 37 5 102494895 102494895 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 102494895 102494895 A G SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.1783 p.M595V 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 208 0 0 168 25 12.9534 NKD2 0 genome.wustl.edu 37 5 1037966 1037966 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 1037966 1037966 G A SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known silent c.834 p.S278 0.000 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 28 0 0 24 8 25 MAN2A1 0 genome.wustl.edu 37 5 109181585 109181585 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 109181585 109181585 T C SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known missense c.2720 p.L907P 0.990 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 322 1 0.309598 223 63 22.028 SLC25A46 0 genome.wustl.edu 37 5 110096994 110096994 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 110096994 110096994 C T SNP SLC25A46 ENST00000355943 human ensembl 74_37 +1 known nonsense c.769 p.R257* 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A46 HGNC ENSG00000164209 263 0 0 224 51 18.5455 SLC25A46 0 genome.wustl.edu 37 5 110097241 110097241 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 110097241 110097241 A G SNP SLC25A46 ENST00000355943 human ensembl 74_37 +1 known missense c.1016 p.H339R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A46 HGNC ENSG00000164209 531 1 0.18797 350 76 17.8404 CTNND2 0 genome.wustl.edu 37 5 11023012 11023012 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 11023012 11023012 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2868 p.S956 0.910 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 155 0 0 127 36 22.0859 WDR36 0 genome.wustl.edu 37 5 110445992 110445992 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 110445992 110445992 C T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known silent c.1599 p.G533 0.650 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 200 0 0 125 34 21.3836 WDR36 0 genome.wustl.edu 37 5 110462497 110462497 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 110462497 110462497 G T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.2772 p.Q924H 0.571 pfam_SSU_processome_Utp21 pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 122 0 0 87 19 17.9245 CTNND2 0 genome.wustl.edu 37 5 11199700 11199700 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 11199700 11199700 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1835 p.A612V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 193 0 0 130 34 20.7317 APC 0 genome.wustl.edu 37 5 112102935 112102935 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 112102935 112102935 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.270 p.K90 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 139 0 0 87 16 15.534 APC 0 genome.wustl.edu 37 5 112176628 112176628 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 112176628 112176628 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.5337 p.I1779M 0.963 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 74 0 0 62 20 24.3902 REEP5 0 genome.wustl.edu 37 5 112222733 112222733 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 112222733 112222733 C T SNP REEP5 ENST00000379638 human ensembl 74_37 -1 known missense c.499 p.A167T 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP5 HGNC ENSG00000129625 205 0 0 122 23 15.8621 YTHDC2 0 genome.wustl.edu 37 5 112915375 112915375 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 112915375 112915375 T C SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.3337 p.F1113L 0.997 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 206 0 0 146 45 23.5602 TRIM36 0 genome.wustl.edu 37 5 114469592 114469592 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 114469592 114469592 C T SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.1499 p.S500N 1.000 superfamily_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 156 0 0 137 25 15.4321 PGGT1B 0 genome.wustl.edu 37 5 114572137 114572137 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 114572137 114572137 A G SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known missense c.562 p.W188R 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 248 0 0 153 36 19.0476 TICAM2 0 genome.wustl.edu 37 5 114916287 114916287 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 114916287 114916287 T C SNP TICAM2 ENST00000408996 human ensembl 74_37 -1 known missense c.1174 p.K392E 0.605 pfscan_TIR_dom pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 125 0 0 93 13 12.2642 TICAM2 0 genome.wustl.edu 37 5 114916505 114916505 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 114916505 114916505 T C SNP TICAM2 ENST00000408996 human ensembl 74_37 -1 known missense c.956 p.N319S 0.010 pfam_TIR_dom,superfamily_TIR_dom,pfscan_TIR_dom pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 169 0 0 106 33 23.741 DMXL1 0 genome.wustl.edu 37 5 118485923 118485923 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 118485923 118485923 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.4401 p.K1467 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 283 0 0 239 68 22.1498 SLC6A19 0 genome.wustl.edu 37 5 1221330 1221330 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 1221330 1221330 C T SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.1603 p.R535C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 41 0 0 41 11 21.1538 CEP120 0 genome.wustl.edu 37 5 122717893 122717893 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 122717893 122717893 A G SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.2015 p.L672P 1.000 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 189 0 0 158 40 20.202 CEP120 0 genome.wustl.edu 37 5 122726848 122726848 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 122726848 122726848 C T SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.994 p.V332M 1.000 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 164 0 0 97 19 16.3793 CSNK1G3 0 genome.wustl.edu 37 5 122911547 122911547 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 122911547 122911547 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known missense c.563 p.L188S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G3 HGNC ENSG00000151292 162 0 0 118 40 25.3165 LMNB1 0 genome.wustl.edu 37 5 126156662 126156662 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 126156662 126156662 T C SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known silent c.1221 p.R407 1.000 NULL pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 89 0 0 63 21 25 FBN2 0 genome.wustl.edu 37 5 127599336 127599336 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 127599336 127599336 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7973 p.C2658Y 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 69 0 0 55 11 16.6667 FBN2 0 genome.wustl.edu 37 5 127647035 127647035 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 127647035 127647035 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.5031 p.C1677 0.958 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 79 0 0 73 4 5.19481 ADAMTS19 0 genome.wustl.edu 37 5 129015545 129015545 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 129015545 129015545 T G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2577 p.H859Q 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 182 0 0 131 31 19.1358 RAD50 0 genome.wustl.edu 37 5 131953957 131953957 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 131953957 131953957 T G SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.3360 p.D1120E 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 160 0 0 104 28 21.2121 KIF3A 0 genome.wustl.edu 37 5 132070038 132070038 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 132070038 132070038 T C SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.139 p.T47A 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 498 0 0 366 90 19.7368 SHROOM1 0 genome.wustl.edu 37 5 132158969 132158969 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 132158969 132158969 C T SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known silent c.2199 p.A733 0.021 pfam_ASD2 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 34 0 0 29 9 23.6842 AFF4 0 genome.wustl.edu 37 5 132220768 132220768 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 132220768 132220768 C A SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.3143 p.S1048I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 52 0 0 32 5 13.5135 HSPA4 0 genome.wustl.edu 37 5 132424147 132424147 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 132424147 132424147 G A SNP HSPA4 ENST00000304858 human ensembl 74_37 +1 known missense c.1037 p.R346Q 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 140 1 0.70922 67 22 24.7191 HSPA4 0 genome.wustl.edu 37 5 132428415 132428415 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 132428415 132428415 A G SNP HSPA4 ENST00000304858 human ensembl 74_37 +1 known silent c.1584 p.E528 0.987 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 65 0 0 35 8 18.6047 FSTL4 0 genome.wustl.edu 37 5 132535212 132535212 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 132535212 132535212 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.2104 p.V702I 0.996 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 96 0 0 76 13 14.6067 CLPTM1L 0 genome.wustl.edu 37 5 1331946 1331946 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 1331946 1331946 T C SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known missense c.944 p.K315R 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 112 0 0 86 20 18.8679 TCF7 0 genome.wustl.edu 37 5 133473800 133473800 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 133473800 133473800 A G SNP TCF7 ENST00000517741 human ensembl 74_37 +1 known missense c.200 p.N67S 0.992 NULL NULL - no_errors TCF7 HGNC ENSG00000081059 102 0 0 63 12 16 PPP2CA 0 genome.wustl.edu 37 5 133536726 133536726 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 133536726 133536726 T C SNP PPP2CA ENST00000481195 human ensembl 74_37 -1 known missense c.526 p.T176A 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 141 0 0 96 25 20.6612 PPP2CA 0 genome.wustl.edu 37 5 133561534 133561534 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 133561534 133561534 T C SNP PPP2CA ENST00000481195 human ensembl 74_37 -1 known missense c.19 p.T7A 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 51 0 0 41 7 14.5833 SEC24A 0 genome.wustl.edu 37 5 133997278 133997278 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 133997278 133997278 T C SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known splice_site c.565+2 e2+2 1.000 - - - no_errors SEC24A HGNC ENSG00000113615 71 0 0 58 16 21.6216 SEC24A 0 genome.wustl.edu 37 5 134044487 134044487 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 134044487 134044487 G A SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.2636 p.R879H 0.997 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 259 0 0 173 40 18.7793 DDX46 0 genome.wustl.edu 37 5 134109545 134109545 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 134109545 134109545 G A SNP DDX46 ENST00000452510 human ensembl 74_37 +1 known missense c.607 p.D203N 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 81 0 0 68 14 17.0732 KLHL3 0 genome.wustl.edu 37 5 137056206 137056206 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 137056206 137056206 C T SNP KLHL3 ENST00000309755 human ensembl 74_37 -1 known missense c.82 p.V28I 0.996 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC ENSG00000146021 178 0 0 106 24 18.4615 DNAH5 0 genome.wustl.edu 37 5 13721260 13721260 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 13721260 13721260 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12128 p.T4043M 0.859 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 181 0 0 123 37 23.125 PKD2L2 0 genome.wustl.edu 37 5 137271556 137271556 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 137271556 137271556 T A SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known missense c.1742 p.I581N 0.921 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 119 0 0 80 16 16.6667 NME5 0 genome.wustl.edu 37 5 137454576 137454576 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 137454576 137454576 A C SNP NME5 ENST00000265191 human ensembl 74_37 -1 known missense c.486 p.N162K 0.941 pfam_Dpy-30_motif,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 113 0 0 64 13 16.8831 CDC23 0 genome.wustl.edu 37 5 137533902 137533902 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 137533902 137533902 G A SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known missense c.998 p.T333M 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 211 0 0 141 38 21.2291 KDM3B 0 genome.wustl.edu 37 5 137727078 137727078 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 137727078 137727078 G T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.1757 p.G586V 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 115 0 0 86 27 23.8938 CTNNA1 0 genome.wustl.edu 37 5 138269585 138269585 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 138269585 138269585 A G SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2528 p.Y843C 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 70 0 0 70 12 14.6341 SLC23A1 0 genome.wustl.edu 37 5 138714371 138714371 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 138714371 138714371 C T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.1088 p.G363D 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 12 0 0 8 3 27.2727 PSD2 0 genome.wustl.edu 37 5 139193808 139193808 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 139193808 139193808 C T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.875 p.S292L 1.000 superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 180 0 0 139 23 14.1975 SLC35A4 0 genome.wustl.edu 37 5 139947472 139947472 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 139947472 139947472 G A SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known missense c.718 p.G240S 0.173 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 125 0 0 81 21 20.5882 PCDHA4 0 genome.wustl.edu 37 5 140188651 140188651 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140188651 140188651 T C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1879 p.Y627H 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 107 0 0 60 12 16.6667 PCDHA5 0 genome.wustl.edu 37 5 140203141 140203141 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140203141 140203141 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1781 p.R594H 0.964 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 68 0 0 51 17 25 PCDHA5 0 genome.wustl.edu 37 5 140203465 140203465 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140203465 140203465 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.2105 p.A702V 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 110 1 0.900901 64 11 14.6667 PCDHA7 0 genome.wustl.edu 37 5 140214272 140214272 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140214272 140214272 T C SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.304 p.C102R 0.987 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 389 0 0 350 29 7.65172 PCDHA9 0 genome.wustl.edu 37 5 140228384 140228384 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140228384 140228384 T C SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.304 p.C102R 0.905 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 245 2 0.809717 186 29 13.4884 PCDHA9 0 genome.wustl.edu 37 5 140229555 140229555 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140229555 140229555 A G SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1475 p.Y492C 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 122 1 0.813008 79 18 18.5567 PCDHA9 0 genome.wustl.edu 37 5 140229744 140229744 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140229744 140229744 T C SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1664 p.V555A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 134 1 0.740741 83 20 19.4175 PCDHA9 0 genome.wustl.edu 37 5 140230117 140230117 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140230117 140230117 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.2037 p.S679 0.016 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 48 0 0 55 11 16.6667 PCDHA11 0 genome.wustl.edu 37 5 140249416 140249416 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140249416 140249416 A T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.728 p.D243V 0.963 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 42 0 0 26 5 16.129 PCDHA11 0 genome.wustl.edu 37 5 140250295 140250295 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140250295 140250295 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1607 p.A536V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 116 0 0 88 16 15.3846 PCDHA13 0 genome.wustl.edu 37 5 140263420 140263420 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140263420 140263420 T C SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1567 p.L523 0.957 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 130 1 0.763359 104 23 18.1102 PCDHA13 0 genome.wustl.edu 37 5 140263984 140263984 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140263984 140263984 T C SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.2131 p.L711 0.984 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 152 1 0.653595 104 22 17.4603 PCDHAC1 0 genome.wustl.edu 37 5 140306707 140306707 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140306707 140306707 T C SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.230 p.V77A 0.996 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 58 0 0 48 5 9.43396 PCDHB5 0 genome.wustl.edu 37 5 140516540 140516540 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140516540 140516540 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1524 p.D508 0.973 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 146 0 0 91 15 14.1509 PCDHB7 0 genome.wustl.edu 37 5 140554005 140554005 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140554005 140554005 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1589 p.R530H 0.052 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 92 0 0 50 24 32.4324 PCDHB16 0 genome.wustl.edu 37 5 140562720 140562720 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140562720 140562720 T C SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.586 p.L196 0.151 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 88 0 0 85 14 14.1414 PCDHB16 0 genome.wustl.edu 37 5 140564077 140564077 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140564077 140564077 G C SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1943 p.G648A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 36 0 0 27 8 22.8571 PCDHB10 0 genome.wustl.edu 37 5 140573462 140573462 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140573462 140573462 A C SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1337 p.D446A 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 99 0 0 82 23 21.9048 PCDHB12 0 genome.wustl.edu 37 5 140590145 140590145 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140590145 140590145 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1666 p.D556N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 68 0 0 38 13 25.4902 PCDHGA3 0 genome.wustl.edu 37 5 140725675 140725675 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140725675 140725675 A G SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2075 p.Y692C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 116 0 0 92 15 14.0187 PCDHGA4 0 genome.wustl.edu 37 5 140735157 140735157 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140735157 140735157 A G SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.390 p.P130 0.037 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 60 0 0 47 10 17.5439 PCDHGB2 0 genome.wustl.edu 37 5 140739874 140739874 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140739874 140739874 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.172 p.V58I 0.004 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 95 0 0 59 19 24.359 PCDHGB3 0 genome.wustl.edu 37 5 140751421 140751421 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140751421 140751421 T C SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1460 p.V487A 0.036 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 110 0 0 111 17 13.2812 PCDHGA8 0 genome.wustl.edu 37 5 140772702 140772702 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140772702 140772702 A G SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.322 p.T108A 0.032 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 101 0 0 81 20 19.802 PCDHGA9 0 genome.wustl.edu 37 5 140782733 140782733 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140782733 140782733 A G SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.214 p.T72A 0.393 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 141 0 0 101 23 18.5484 PCDHGA9 0 genome.wustl.edu 37 5 140782869 140782869 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140782869 140782869 A G SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.350 p.Y117C 0.001 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 137 0 0 104 22 17.4603 PCDHGA10 0 genome.wustl.edu 37 5 140794829 140794829 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140794829 140794829 A G SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.2087 p.Y696C 0.993 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 165 0 0 120 18 13.0435 PCDHGB7 0 genome.wustl.edu 37 5 140797840 140797840 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140797840 140797840 A G SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.414 p.I138M 0.156 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 150 0 0 117 46 28.2209 PCDHGA11 0 genome.wustl.edu 37 5 140801979 140801979 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140801979 140801979 A G SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.1185 p.L395 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 113 0 0 75 22 22.6804 PCDHGA12 0 genome.wustl.edu 37 5 140812322 140812322 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140812322 140812322 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1996 p.D666N 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 112 0 0 83 31 27.193 PCDHGC4 0 genome.wustl.edu 37 5 140865090 140865090 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140865090 140865090 A G SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.350 p.Y117C 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 159 0 0 115 29 20.1389 DIAPH1 0 genome.wustl.edu 37 5 140958698 140958698 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140958698 140958698 G A SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.890 p.P297L 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 645 0 0 430 138 24.2958 PCDH1 0 genome.wustl.edu 37 5 141243673 141243673 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 141243673 141243673 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.2223 p.A741 0.044 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 57 0 0 54 11 16.9231 YIPF5 0 genome.wustl.edu 37 5 143540084 143540084 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 143540084 143540084 T G SNP YIPF5 ENST00000274496 human ensembl 74_37 -1 known silent c.651 p.G217 0.989 pfam_Yip1 pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 102 0 0 69 15 17.8571 KCTD16 0 genome.wustl.edu 37 5 143587110 143587110 + Splice_Site SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 143587110 143587110 G A SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known splice_site c.832+1 e1+1 1.000 - - - no_errors KCTD16 HGNC ENSG00000183775 145 1 0.684932 100 22 18.0328 TRIO 0 genome.wustl.edu 37 5 14488329 14488329 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 14488329 14488329 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.7592 p.S2531L 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 10 0 0 6 4 40 LARS 0 genome.wustl.edu 37 5 145493676 145493676 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 145493676 145493676 A G SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.3524 p.V1175A 1.000 NULL pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 384 0 0 270 62 18.6747 GPR151 0 genome.wustl.edu 37 5 145895104 145895104 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 145895104 145895104 T C SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known silent c.573 p.V191 0.876 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 71 0 0 58 18 23.6842 DPYSL3 0 genome.wustl.edu 37 5 146792252 146792252 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 146792252 146792252 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known splice_site c.541-1 e6-1 1.000 - - - no_errors DPYSL3 HGNC ENSG00000113657 47 0 0 39 8 17.0213 FAM105B 0 genome.wustl.edu 37 5 14692970 14692970 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 14692970 14692970 T C SNP FAM105B ENST00000284274 human ensembl 74_37 +1 known missense c.872 p.M291T 1.000 prints_FAM105 prints_FAM105,prints_FAM105B,prints_FAM105A - no_errors FAM105B HGNC ENSG00000154124 121 0 0 106 29 21.4815 JAKMIP2 0 genome.wustl.edu 37 5 147019216 147019216 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 147019216 147019216 G A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known silent c.1509 p.I503 0.083 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 779 1 0.128205 597 36 5.6872 ANKH 0 genome.wustl.edu 37 5 14712996 14712996 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 14712996 14712996 A G SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.1352 p.V451A 1.000 NULL pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 15 0 0 11 3 21.4286 HTR4 0 genome.wustl.edu 37 5 147902878 147902878 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 147902878 147902878 A G SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known missense c.385 p.Y129H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 63 0 0 41 7 14.5833 SH3TC2 0 genome.wustl.edu 37 5 148388499 148388499 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 148388499 148388499 C T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known silent c.3393 p.K1131 0.997 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 315 0 0 207 49 19.1406 SH3TC2 0 genome.wustl.edu 37 5 148388548 148388548 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 148388548 148388548 A G SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.3344 p.L1115S 0.993 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 258 0 0 181 47 20.614 SH3TC2 0 genome.wustl.edu 37 5 148431762 148431762 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 148431762 148431762 A G SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.94 p.C32R 0.000 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 326 0 0 231 48 17.2043 ABLIM3 0 genome.wustl.edu 37 5 148617149 148617149 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 148617149 148617149 A G SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.1027 p.R343G 0.996 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 213 0 0 147 35 19.2308 ARHGEF37 0 genome.wustl.edu 37 5 149003693 149003693 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 149003693 149003693 C T SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.1454 p.P485L 0.905 NULL pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 92 0 0 81 23 22.1154 CAMK2A 0 genome.wustl.edu 37 5 149669242 149669242 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 149669242 149669242 G A SNP CAMK2A ENST00000507995 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CAMK2A HGNC ENSG00000070808 41 0 0 29 14 32.5581 ARSI 0 genome.wustl.edu 37 5 149677489 149677489 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 149677489 149677489 A G SNP ARSI ENST00000328668 human ensembl 74_37 -1 known missense c.998 p.L333P 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 76 0 0 67 17 20.2381 SYNPO 0 genome.wustl.edu 37 5 150029518 150029518 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 150029518 150029518 A G SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.2413 p.K805E 1.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 159 0 0 104 13 11.1111 ZNF300P1 0 genome.wustl.edu 37 5 150310313 150310313 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 150310313 150310313 T C SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF300P1 HGNC ENSG00000197083 11 0 0 8 3 27.2727 TNIP1 0 genome.wustl.edu 37 5 150410293 150410293 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 150410293 150410293 T C SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1892 p.D631G 0.997 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 96 0 0 72 24 25 ANXA6 0 genome.wustl.edu 37 5 150484828 150484828 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 150484828 150484828 T C SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known missense c.1817 p.D606G 1.000 pfam_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 90 0 0 62 8 11.4286 FAT2 0 genome.wustl.edu 37 5 150900933 150900933 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 150900933 150900933 C G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11221 p.V3741L 0.171 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 108 0 0 89 20 18.3486 SPARC 0 genome.wustl.edu 37 5 151052748 151052748 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 151052748 151052748 C T SNP SPARC ENST00000231061 human ensembl 74_37 -1 known silent c.150 p.V50 0.971 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 255 0 0 168 51 23.2877 G3BP1 0 genome.wustl.edu 37 5 151170481 151170481 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 151170481 151170481 T C SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.209 p.F70S 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 84 0 0 46 19 29.2308 GALNT10 0 genome.wustl.edu 37 5 153792536 153792536 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 153792536 153792536 C T SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.1474 p.R492C 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 65 0 0 36 14 28 GEMIN5 0 genome.wustl.edu 37 5 154284949 154284949 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 154284949 154284949 T C SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2483 p.K828R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 129 0 0 103 14 11.9658 KIF4B 0 genome.wustl.edu 37 5 154394631 154394631 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 154394631 154394631 T C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known silent c.1212 p.R404 0.040 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 214 0 0 160 38 19.1919 KIF4B 0 genome.wustl.edu 37 5 154396976 154396976 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 154396976 154396976 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.3557 p.A1186V 0.057 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 62 0 0 63 8 11.2676 FNDC9 0 genome.wustl.edu 37 5 156769912 156769912 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 156769912 156769912 C A SNP FNDC9 ENST00000312349 human ensembl 74_37 -1 known silent c.633 p.G211 0.001 NULL superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 105 0 0 66 17 20.4819 SOX30 0 genome.wustl.edu 37 5 157053373 157053373 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 157053373 157053373 T A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.2237 p.E746V 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 195 0 0 150 26 14.7727 EBF1 0 genome.wustl.edu 37 5 158135143 158135143 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 158135143 158135143 G T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1588 p.L530I 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 13 0 0 12 4 25 FBXL7 0 genome.wustl.edu 37 5 15928130 15928130 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 15928130 15928130 A G SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.259 p.M87V 0.999 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 39 0 0 24 8 25 FBXL7 0 genome.wustl.edu 37 5 15928377 15928377 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 15928377 15928377 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.506 p.A169V 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 17 0 0 16 3 15.7895 SDHAP3 0 genome.wustl.edu 37 5 1593304 1593304 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 1593304 1593304 G A SNP SDHAP3 ENST00000436493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP3 HGNC ENSG00000185986 71 0 0 56 13 18.8406 FABP6 0 genome.wustl.edu 37 5 159659203 159659203 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 159659203 159659203 G A SNP FABP6 ENST00000393980 human ensembl 74_37 +1 known missense c.313 p.G105R 0.119 superfamily_Calycin-like superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 34 0 0 20 7 25.9259 SLU7 0 genome.wustl.edu 37 5 159835377 159835377 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 159835377 159835377 T C SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known missense c.778 p.I260V 1.000 pfam_Slu7 pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 204 0 0 138 31 18.3432 GABRA6 0 genome.wustl.edu 37 5 161113279 161113279 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 161113279 161113279 T C SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.82 p.Y28H 1.000 prints_GABBAa6_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 128 0 0 97 23 19.1667 GABRA1 0 genome.wustl.edu 37 5 161318037 161318037 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 161318037 161318037 A G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.837 p.V279 0.922 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 136 0 0 106 22 17.1875 NUDCD2 0 genome.wustl.edu 37 5 162886992 162886992 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 162886992 162886992 T C SNP NUDCD2 ENST00000302764 human ensembl 74_37 -1 known missense c.65 p.Y22C 1.000 pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD2 HGNC ENSG00000170584 187 0 0 146 27 15.6069 MYO10 0 genome.wustl.edu 37 5 16670845 16670845 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 16670845 16670845 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.5673 p.R1891 0.999 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 113 0 0 78 10 11.3636 TENM2 0 genome.wustl.edu 37 5 167645692 167645692 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 167645692 167645692 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.4796 p.D1599G 0.998 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 214 0 0 154 51 24.878 WWC1 0 genome.wustl.edu 37 5 167850759 167850759 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 167850759 167850759 C T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.1496 p.T499I 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 81 0 0 53 15 22.0588 SLIT3 0 genome.wustl.edu 37 5 168098380 168098380 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 168098380 168098380 T C SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.3950 p.D1317G 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 25 0 0 26 6 18.75 SLIT3 0 genome.wustl.edu 37 5 168176497 168176497 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 168176497 168176497 A C SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.2117 p.I706S 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 170 0 0 126 32 20.2532 DOCK2 0 genome.wustl.edu 37 5 169145773 169145773 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 169145773 169145773 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2245 p.R749W 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 168 0 0 139 30 17.7515 DOCK2 0 genome.wustl.edu 37 5 169454930 169454930 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 169454930 169454930 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3445 p.Y1149H 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 146 0 0 110 22 16.6667 FBXW11 0 genome.wustl.edu 37 5 171318497 171318497 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 171318497 171318497 T C SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.763 p.S255G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 157 0 0 132 21 13.7255 UBTD2 0 genome.wustl.edu 37 5 171638962 171638962 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 171638962 171638962 G A SNP UBTD2 ENST00000393792 human ensembl 74_37 -1 known missense c.577 p.R193W 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC ENSG00000168246 193 0 0 143 33 18.75 SH3PXD2B 0 genome.wustl.edu 37 5 171766816 171766816 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 171766816 171766816 C T SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known silent c.1293 p.A431 0.999 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 88 0 0 46 16 25.8065 DUSP1 0 genome.wustl.edu 37 5 172195808 172195808 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 172195808 172195808 A G SNP DUSP1 ENST00000239223 human ensembl 74_37 -1 known missense c.1061 p.L354P 0.989 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC ENSG00000120129 114 0 0 87 22 20.1835 RPL26L1 0 genome.wustl.edu 37 5 172386967 172386967 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 172386967 172386967 T C SNP RPL26L1 ENST00000265100 human ensembl 74_37 +1 known missense c.91 p.S31P 1.000 superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L26/L24P_euk/arc pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26L1 HGNC ENSG00000037241 228 0 0 189 54 22.2222 BNIP1 0 genome.wustl.edu 37 5 172590823 172590823 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 172590823 172590823 C T SNP BNIP1 ENST00000231668 human ensembl 74_37 +1 known missense c.715 p.R239C 1.000 pfam_Sec20 pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 165 0 0 117 28 19.3103 FTH1P10 0 genome.wustl.edu 37 5 17354445 17354445 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 17354445 17354445 T C SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FTH1P10 HGNC ENSG00000223361 87 0 0 49 15 23.4375 SIMC1 0 genome.wustl.edu 37 5 175772238 175772238 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 175772238 175772238 T C SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known silent c.2409 p.I803 0.999 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 182 0 0 129 34 20.8589 CDHR2 0 genome.wustl.edu 37 5 176004743 176004743 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176004743 176004743 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1456 p.V486I 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 52 0 0 39 13 25 CDHR2 0 genome.wustl.edu 37 5 176005416 176005416 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176005416 176005416 A G SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1625 p.N542S 0.044 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 37 0 0 22 8 26.6667 CDHR2 0 genome.wustl.edu 37 5 176011443 176011443 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176011443 176011443 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2161 p.A721T 0.583 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 175 0 0 123 34 21.6561 CDHR2 0 genome.wustl.edu 37 5 176016062 176016062 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176016062 176016062 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2887 p.V963I 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 388 0 0 296 65 18.0055 CDHR2 0 genome.wustl.edu 37 5 176017111 176017111 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176017111 176017111 A G SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.3239 p.Y1080C 0.122 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 552 0 0 383 95 19.8745 UNC5A 0 genome.wustl.edu 37 5 176304606 176304606 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176304606 176304606 A G SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.1537 p.T513A 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 64 0 0 33 12 26.6667 F12 0 genome.wustl.edu 37 5 176830304 176830304 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176830304 176830304 G T SNP F12 ENST00000253496 human ensembl 74_37 -1 known silent c.1482 p.P494 0.001 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 61 0 0 51 14 21.5385 DDX41 0 genome.wustl.edu 37 5 176939332 176939332 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176939332 176939332 T C SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.1612 p.K538E 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 144 0 0 75 17 18.4783 FAM193B 0 genome.wustl.edu 37 5 176958383 176958383 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 176958383 176958383 C T SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known missense c.1076 p.R359Q 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 13 0 0 9 4 30.7692 N4BP3 0 genome.wustl.edu 37 5 177548744 177548744 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 177548744 177548744 C T SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known silent c.1377 p.S459 0.070 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 36 0 0 28 6 17.6471 CLK4 0 genome.wustl.edu 37 5 178040801 178040801 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 178040801 178040801 G A SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.586 p.R196C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK4 HGNC ENSG00000113240 178 0 0 147 36 19.6721 GRM6 0 genome.wustl.edu 37 5 178413444 178413444 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 178413444 178413444 A G SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1811 p.V604A 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 18 0 0 15 4 21.0526 ADAMTS2 0 genome.wustl.edu 37 5 178552049 178552049 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 178552049 178552049 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.2883 p.D961 0.992 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 111 0 0 84 29 25.6637 ADAMTS2 0 genome.wustl.edu 37 5 178699958 178699958 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 178699958 178699958 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.642 p.R214 0.934 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 53 0 0 44 17 27.8689 TBC1D9B 0 genome.wustl.edu 37 5 179290695 179290695 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 179290695 179290695 T C SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.3506 p.D1169G 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 101 0 0 85 23 21.2963 TBC1D9B 0 genome.wustl.edu 37 5 179320379 179320379 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 179320379 179320379 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known silent c.666 p.R222 0.992 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 99 0 0 69 19 21.5909 MAPK9 0 genome.wustl.edu 37 5 179663507 179663507 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 179663507 179663507 G A SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known silent c.1152 p.N384 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 165 0 0 122 23 15.8621 CNOT6 0 genome.wustl.edu 37 5 179994949 179994949 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 179994949 179994949 A G SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known missense c.973 p.N325D 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 160 0 0 121 38 23.8994 BTNL9 0 genome.wustl.edu 37 5 180477189 180477189 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 180477189 180477189 T C SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known missense c.556 p.W186R 0.997 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL9 HGNC ENSG00000165810 148 0 0 89 20 18.3486 CDH18 0 genome.wustl.edu 37 5 19520773 19520773 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 19520773 19520773 G T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1505 p.P502H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 106 0 0 82 13 13.6842 CDH9 0 genome.wustl.edu 37 5 26885845 26885845 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 26885845 26885845 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1760 p.R587H 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 58 0 0 47 20 29.8507 CDH6 0 genome.wustl.edu 37 5 31305309 31305309 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 31305309 31305309 A T SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.1028 p.Y343F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 153 0 0 125 22 14.966 PDZD2 0 genome.wustl.edu 37 5 32052721 32052721 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 32052721 32052721 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.1670 p.Y557C 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 286 1 0.348432 210 47 18.2879 PDZD2 0 genome.wustl.edu 37 5 32061149 32061149 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 32061149 32061149 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2360 p.R787H 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 121 0 0 72 23 24.2105 ZFR 0 genome.wustl.edu 37 5 32390499 32390499 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 32390499 32390499 T C SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.2024 p.Q675R 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 136 0 0 119 32 21.1921 NPR3 0 genome.wustl.edu 37 5 32712294 32712294 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 32712294 32712294 T C SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.412 p.Y138H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 90 0 0 88 17 16.1905 NPR3 0 genome.wustl.edu 37 5 32712393 32712393 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 32712393 32712393 T C SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.511 p.Y171H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 53 0 0 40 17 29.8246 TARS 0 genome.wustl.edu 37 5 33457407 33457407 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 33457407 33457407 C T SNP TARS ENST00000265112 human ensembl 74_37 +1 known nonsense c.883 p.Q295* 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 173 0 0 109 19 14.8438 ADAMTS12 0 genome.wustl.edu 37 5 33751615 33751615 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 33751615 33751615 A G SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.528 p.I176 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 238 0 0 140 25 15.1515 RXFP3 0 genome.wustl.edu 37 5 33937720 33937720 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 33937720 33937720 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.875 p.R292H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 11 0 0 8 4 33.3333 RXFP3 0 genome.wustl.edu 37 5 33937765 33937765 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 33937765 33937765 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.920 p.A307V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 17 0 0 6 4 40 RAI14 0 genome.wustl.edu 37 5 34824309 34824309 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 34824309 34824309 T C SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.2371 p.S791P 0.195 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 282 0 0 195 49 20.082 AGXT2 0 genome.wustl.edu 37 5 35026572 35026572 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 35026572 35026572 A G SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known silent c.813 p.D271 0.071 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 148 0 0 91 20 18.018 UGT3A1 0 genome.wustl.edu 37 5 35957483 35957483 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 35957483 35957483 C T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.882 p.G294 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 83 0 0 48 9 15.7895 IRX1 0 genome.wustl.edu 37 5 3600153 3600153 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 3600153 3600153 A G SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1091 p.Y364C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 12 0 0 9 2 18.1818 UGT3A2 0 genome.wustl.edu 37 5 36035842 36035842 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 36035842 36035842 A G SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known silent c.1530 p.A510 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 60 0 0 48 5 9.43396 UGT3A2 0 genome.wustl.edu 37 5 36064364 36064364 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 36064364 36064364 A G SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known silent c.183 p.G61 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 122 0 0 96 19 16.5217 NIPBL 0 genome.wustl.edu 37 5 36985832 36985832 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 36985832 36985832 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.2550 p.S850 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 80 0 0 63 21 25 NIPBL 0 genome.wustl.edu 37 5 37024793 37024793 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 37024793 37024793 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.5681 p.R1894H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 90 0 0 90 19 17.4312 WDR70 0 genome.wustl.edu 37 5 37703147 37703147 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 37703147 37703147 T C SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known silent c.1374 p.R458 0.875 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 191 0 0 139 27 16.2651 EGFLAM 0 genome.wustl.edu 37 5 38407115 38407115 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 38407115 38407115 A G SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1014 p.I338M 0.000 NULL pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 178 0 0 112 29 20.5674 EGFLAM 0 genome.wustl.edu 37 5 38464058 38464058 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 38464058 38464058 G A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known silent c.3024 p.G1008 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 68 0 0 58 10 14.7059 LIFR 0 genome.wustl.edu 37 5 38506631 38506631 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 38506631 38506631 A G SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.1095 p.R365 0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 115 0 0 86 22 20.3704 DAB2 0 genome.wustl.edu 37 5 39376963 39376963 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 39376963 39376963 T C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known silent c.1926 p.P642 0.064 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 121 0 0 75 20 21.0526 DAB2 0 genome.wustl.edu 37 5 39377133 39377133 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 39377133 39377133 T C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.1756 p.T586A 0.002 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 170 0 0 134 29 17.7914 MROH2B 0 genome.wustl.edu 37 5 41015568 41015568 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 41015568 41015568 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2897 p.E966A 0.456 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 86 0 0 58 14 19.4444 FBXO4 0 genome.wustl.edu 37 5 41927177 41927177 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 41927177 41927177 T C SNP FBXO4 ENST00000281623 human ensembl 74_37 +1 known silent c.252 p.S84 0.972 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO4 HGNC ENSG00000151876 377 0 0 232 55 19.1638 ZNF131 0 genome.wustl.edu 37 5 43161820 43161820 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 43161820 43161820 A G SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.841 p.K281E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 102 0 0 89 27 23.2759 NNT 0 genome.wustl.edu 37 5 43644365 43644365 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 43644365 43644365 T C SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.1036 p.L346 1.000 pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 204 0 0 158 33 17.2775 MRPS30 0 genome.wustl.edu 37 5 44811164 44811164 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 44811164 44811164 C T SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known missense c.655 p.R219C 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 123 0 0 111 28 20.1439 EMB 0 genome.wustl.edu 37 5 49699039 49699039 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 49699039 49699039 A G SNP EMB ENST00000303221 human ensembl 74_37 -1 known missense c.850 p.Y284H 0.954 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 83 0 0 59 10 14.4928 ADAMTS16 0 genome.wustl.edu 37 5 5235263 5235263 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 5235263 5235263 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1987 p.R663W 0.984 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 113 0 0 54 11 16.9231 DHX29 0 genome.wustl.edu 37 5 54569171 54569171 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 54569171 54569171 T C SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.2725 p.T909A 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 131 0 0 83 19 18.6275 DHX29 0 genome.wustl.edu 37 5 54591220 54591220 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 54591220 54591220 T C SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known missense c.638 p.D213G 0.924 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 241 1 0.413223 168 25 12.9534 KIAA0947 0 genome.wustl.edu 37 5 5473675 5473675 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 5473675 5473675 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.6227 p.A2076V 0.998 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 84 0 0 46 11 19.2982 KIAA0947 0 genome.wustl.edu 37 5 5476116 5476116 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 5476116 5476116 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known nonsense c.6444 p.W2148* 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 66 0 0 46 13 22.0339 GPBP1 0 genome.wustl.edu 37 5 56509990 56509990 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 56509990 56509990 T C SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known silent c.33 p.L11 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 269 0 0 188 54 22.314 NDUFAF2 0 genome.wustl.edu 37 5 60241231 60241231 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 60241231 60241231 C T SNP NDUFAF2 ENST00000511107 human ensembl 74_37 +1 putative missense c.149 p.A50V 0.000 NULL NULL - no_errors NDUFAF2 HGNC ENSG00000164182 40 0 0 40 8 16.6667 KIF2A 0 genome.wustl.edu 37 5 61659541 61659541 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 61659541 61659541 G A SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.1282 p.A428T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 151 1 0.657895 101 21 17.2131 IPO11 0 genome.wustl.edu 37 5 61923155 61923155 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 61923155 61923155 A G SNP IPO11 ENST00000512177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IPO11 HGNC ENSG00000086200 98 0 0 75 17 18.4783 HTR1A 0 genome.wustl.edu 37 5 63256867 63256867 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 63256867 63256867 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.680 p.R227H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 168 1 0.591716 115 24 17.2662 RNF180 0 genome.wustl.edu 37 5 63509837 63509837 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 63509837 63509837 A G SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known silent c.684 p.S228 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 197 0 0 159 41 20.5 CEP72 0 genome.wustl.edu 37 5 635582 635582 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 635582 635582 T C SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known missense c.787 p.C263R 0.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 63 0 0 54 9 14.2857 RGS7BP 0 genome.wustl.edu 37 5 63803674 63803674 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 63803674 63803674 A G SNP RGS7BP ENST00000334025 human ensembl 74_37 +1 known missense c.302 p.Q101R 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 57 0 0 46 5 9.80392 PPWD1 0 genome.wustl.edu 37 5 64879030 64879030 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 64879030 64879030 A G SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known missense c.1516 p.K506E 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 357 0 0 246 44 15.1724 NLN 0 genome.wustl.edu 37 5 65084052 65084052 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 65084052 65084052 A G SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.1066 p.I356V 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 287 0 0 212 43 16.8627 ERBB2IP 0 genome.wustl.edu 37 5 65324153 65324153 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 65324153 65324153 G A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.1188 p.M396I 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 107 1 0.925926 92 14 13.2075 ERBB2IP 0 genome.wustl.edu 37 5 65350643 65350643 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 65350643 65350643 G A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.3497 p.R1166Q 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 106 0 0 86 25 22.5225 CD180 0 genome.wustl.edu 37 5 66478818 66478818 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 66478818 66478818 A G SNP CD180 ENST00000256447 human ensembl 74_37 -1 known missense c.1853 p.L618P 0.059 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 148 0 0 135 30 18.1818 CD180 0 genome.wustl.edu 37 5 66479818 66479818 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 66479818 66479818 G A SNP CD180 ENST00000256447 human ensembl 74_37 -1 known missense c.853 p.R285C 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 187 0 0 127 28 18.0645 TPPP 0 genome.wustl.edu 37 5 678016 678016 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 678016 678016 C T SNP TPPP ENST00000360578 human ensembl 74_37 -1 known missense c.160 p.A54T 1.000 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP HGNC ENSG00000171368 43 0 0 24 5 17.2414 CENPH 0 genome.wustl.edu 37 5 68492938 68492938 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 68492938 68492938 T C SNP CENPH ENST00000283006 human ensembl 74_37 +1 known splice_site c.371+2 e5+2 0.977 - - - no_errors CENPH HGNC ENSG00000153044 115 0 0 62 26 29.5455 RAD17 0 genome.wustl.edu 37 5 68687758 68687758 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 68687758 68687758 A G SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known silent c.1140 p.E380 0.998 tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 223 0 0 163 35 17.6768 MARVELD2 0 genome.wustl.edu 37 5 68728430 68728430 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 68728430 68728430 A G SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known missense c.1259 p.K420R 0.816 NULL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 129 0 0 72 15 17.2414 BDP1 0 genome.wustl.edu 37 5 70751754 70751754 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 70751754 70751754 T C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.50 p.V17A 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 16 0 0 18 3 14.2857 ZNF366 0 genome.wustl.edu 37 5 71756026 71756026 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 71756026 71756026 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.1298 p.P433L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 36 0 0 27 8 22.8571 TNPO1 0 genome.wustl.edu 37 5 72173153 72173153 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 72173153 72173153 A G SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known silent c.900 p.V300 0.885 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 149 1 0.666667 115 26 18.4397 ARHGEF28 0 genome.wustl.edu 37 5 73048780 73048780 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 73048780 73048780 G A SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known silent c.228 p.S76 0.178 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 52 0 0 36 7 16.2791 BHMT 0 genome.wustl.edu 37 5 78423758 78423758 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 78423758 78423758 G A SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.989 p.S330N 1.000 superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 45 0 0 38 13 25.4902 JMY 0 genome.wustl.edu 37 5 78610597 78610597 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 78610597 78610597 A G SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.2582 p.H861R 1.000 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 63 0 0 64 6 8.57143 CMYA5 0 genome.wustl.edu 37 5 79031641 79031641 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79031641 79031641 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.7053 p.I2351 0.006 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 91 0 0 71 16 18.3908 CMYA5 0 genome.wustl.edu 37 5 79034494 79034494 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79034494 79034494 T A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known nonsense c.9906 p.Y3302* 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 162 0 0 127 27 17.5325 CMYA5 0 genome.wustl.edu 37 5 79095361 79095361 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79095361 79095361 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.12132 p.P4044 0.938 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 85 0 0 63 14 18.1818 ZFYVE16 0 genome.wustl.edu 37 5 79770525 79770525 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79770525 79770525 C G SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.4337 p.T1446S 0.011 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 220 0 0 144 16 10 MSH3 0 genome.wustl.edu 37 5 80109433 80109433 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 80109433 80109433 G A SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.2686 p.G896R 1.000 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 198 1 0.502513 136 40 22.7273 RASGRF2 0 genome.wustl.edu 37 5 80503095 80503095 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 80503095 80503095 T A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2998 p.S1000T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 62 0 0 71 10 12.3457 ZCCHC9 0 genome.wustl.edu 37 5 80607037 80607037 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 80607037 80607037 T A SNP ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known silent c.636 p.G212 0.941 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 767 1 0.130208 505 94 15.6928 VCAN 0 genome.wustl.edu 37 5 82817461 82817461 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 82817461 82817461 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.3336 p.H1112 0.438 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 110 0 0 63 14 18.1818 VCAN 0 genome.wustl.edu 37 5 82832848 82832848 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 82832848 82832848 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.4026 p.V1342 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 135 0 0 97 16 14.1593 VCAN 0 genome.wustl.edu 37 5 82835440 82835440 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 82835440 82835440 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.6618 p.F2206 0.005 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 268 0 0 193 48 19.917 EDIL3 0 genome.wustl.edu 37 5 83360623 83360623 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 83360623 83360623 T C SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.848 p.N283S 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 223 0 0 120 40 25 TMEM161B 0 genome.wustl.edu 37 5 87536644 87536644 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 87536644 87536644 T C SNP TMEM161B ENST00000296595 human ensembl 74_37 -1 known silent c.93 p.L31 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 158 0 0 139 21 13.125 BRD9 0 genome.wustl.edu 37 5 889777 889777 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 889777 889777 A G SNP BRD9 ENST00000323510 human ensembl 74_37 -1 known missense c.38 p.F13S 0.002 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 94 0 0 74 14 15.9091 TRIP13 0 genome.wustl.edu 37 5 908157 908157 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 908157 908157 A G SNP TRIP13 ENST00000166345 human ensembl 74_37 +1 known missense c.727 p.K243E 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 206 0 0 163 39 19.3069 SEMA5A 0 genome.wustl.edu 37 5 9136697 9136697 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 9136697 9136697 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1518 p.W506C 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 90 0 0 57 11 16.1765 TRIP13 0 genome.wustl.edu 37 5 916037 916037 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 916037 916037 C T SNP TRIP13 ENST00000166345 human ensembl 74_37 +1 known silent c.1152 p.S384 0.245 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 392 1 0.254453 219 52 19.1882 FAM172A 0 genome.wustl.edu 37 5 93410470 93410470 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 93410470 93410470 A G SNP FAM172A ENST00000504768 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM172A HGNC ENSG00000113391 112 0 0 103 17 14.1667 MCTP1 0 genome.wustl.edu 37 5 94288931 94288931 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 94288931 94288931 A G SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.973 p.Y325H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 118 0 0 52 23 30.6667 TTC37 0 genome.wustl.edu 37 5 94859446 94859446 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 94859446 94859446 T C SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known silent c.1545 p.G515 0.006 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 189 0 0 119 40 25.1572 ARSK 0 genome.wustl.edu 37 5 94927320 94927320 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 94927320 94927320 A G SNP ARSK ENST00000380009 human ensembl 74_37 +1 known missense c.1087 p.T363A 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 317 1 0.314465 223 55 19.7842 ELL2 0 genome.wustl.edu 37 5 95249473 95249473 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 95249473 95249473 A G SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known splice_site c.481+2 e4+2 1.000 - - - no_errors ELL2 HGNC ENSG00000118985 213 0 0 156 35 18.3246 LNPEP 0 genome.wustl.edu 37 5 96315402 96315402 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 96315402 96315402 G A SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.580 p.V194M 0.992 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 217 0 0 165 49 22.8972 LNPEP 0 genome.wustl.edu 37 5 96315595 96315595 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 96315595 96315595 C T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.773 p.T258M 0.033 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 146 0 0 106 16 13.1148 CHD1 0 genome.wustl.edu 37 5 98209302 98209302 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 98209302 98209302 C T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.3566 p.R1189Q 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 137 0 0 80 16 16.6667 PRDM13 0 genome.wustl.edu 37 6 100062346 100062346 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 100062346 100062346 A G SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.1835 p.D612G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 45 0 0 28 6 17.6471 ASCC3 0 genome.wustl.edu 37 6 101054919 101054919 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 101054919 101054919 T C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.4831 p.T1611A 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 115 0 0 92 18 16.3636 ASCC3 0 genome.wustl.edu 37 6 101296426 101296426 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 101296426 101296426 A G SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.399 p.A133 0.939 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 123 0 0 85 15 15 PREP 0 genome.wustl.edu 37 6 105781311 105781311 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 105781311 105781311 G A SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.893 p.T298M 1.000 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 249 0 0 186 44 19.1304 RTN4IP1 0 genome.wustl.edu 37 6 107050772 107050772 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 107050772 107050772 C T SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known missense c.646 p.G216R 0.988 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 126 0 0 100 30 23.0769 BEND3 0 genome.wustl.edu 37 6 107391162 107391162 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 107391162 107391162 G A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.1233 p.A411 0.967 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 109 0 0 56 23 29.1139 MAK 0 genome.wustl.edu 37 6 10764770 10764770 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 10764770 10764770 T C SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1787 p.N596S 0.982 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 219 0 0 136 36 20.9302 PDSS2 0 genome.wustl.edu 37 6 107780386 107780386 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 107780386 107780386 A G SNP PDSS2 ENST00000369037 human ensembl 74_37 -1 known missense c.104 p.V35A 0.472 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS2 HGNC ENSG00000164494 123 0 0 82 17 17.1717 MAK 0 genome.wustl.edu 37 6 10791920 10791920 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 10791920 10791920 T A SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1304 p.D435V 0.906 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 149 0 0 89 16 15.2381 OSTM1 0 genome.wustl.edu 37 6 108385478 108385478 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 108385478 108385478 G A SNP OSTM1 ENST00000193322 human ensembl 74_37 -1 known missense c.428 p.A143V 1.000 pfam_Osteopetrosis-assoc_TM_1 pfam_Osteopetrosis-assoc_TM_1 - no_errors OSTM1 HGNC ENSG00000081087 139 0 0 100 32 24.2424 SESN1 0 genome.wustl.edu 37 6 109323528 109323528 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 109323528 109323528 G A SNP SESN1 ENST00000436639 human ensembl 74_37 -1 known missense c.298 p.P100S 1.000 NULL pfam_PA26 - no_errors SESN1 HGNC ENSG00000080546 146 0 0 86 17 16.5049 MICAL1 0 genome.wustl.edu 37 6 109774467 109774467 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 109774467 109774467 C A SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.627 p.K209N 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 93 0 0 69 16 18.8235 ZBTB24 0 genome.wustl.edu 37 6 109787303 109787303 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 109787303 109787303 T C SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known silent c.1845 p.E615 0.422 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 130 0 0 134 37 21.6374 AK9 0 genome.wustl.edu 37 6 109962765 109962765 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 109962765 109962765 T C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.889 p.K297E 0.992 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 96 0 0 84 26 23.6364 GPR6 0 genome.wustl.edu 37 6 110300895 110300895 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 110300895 110300895 A T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.625 p.T209S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 43 0 0 37 11 22.9167 WASF1 0 genome.wustl.edu 37 6 110434550 110434550 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 110434550 110434550 G A SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.247 p.L83F 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 87 0 0 49 17 25.7576 DDO 0 genome.wustl.edu 37 6 110714482 110714482 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 110714482 110714482 C T SNP DDO ENST00000368924 human ensembl 74_37 -1 known silent c.606 p.P202 0.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 319 0 0 252 48 16 CDK19 0 genome.wustl.edu 37 6 110943323 110943323 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 110943323 110943323 T C SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known missense c.1078 p.N360D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK19 HGNC ENSG00000155111 285 0 0 178 36 16.8224 REV3L 0 genome.wustl.edu 37 6 111628643 111628643 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 111628643 111628643 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.9173 p.R3058Q 1.000 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 203 0 0 160 31 16.2304 REV3L 0 genome.wustl.edu 37 6 111650832 111650832 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 111650832 111650832 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.8144 p.R2715Q 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 260 0 0 124 29 18.9542 NEDD9 0 genome.wustl.edu 37 6 11190367 11190367 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 11190367 11190367 A G SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.1735 p.Y579H 0.872 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 107 0 0 84 13 13.4021 FYN 0 genome.wustl.edu 37 6 112015676 112015676 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 112015676 112015676 C T SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1175 p.R392Q 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 461 1 0.21645 351 76 17.7986 TSPYL1 0 genome.wustl.edu 37 6 116600377 116600377 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 116600377 116600377 T G SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known missense c.617 p.E206A 0.004 NULL pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 25 0 0 32 6 15.7895 ROS1 0 genome.wustl.edu 37 6 117681045 117681045 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 117681045 117681045 T A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.3575 p.D1192V 0.086 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 188 0 0 151 36 19.2513 ROS1 0 genome.wustl.edu 37 6 117709040 117709040 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 117709040 117709040 C T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.1917 p.L639 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 390 0 0 244 63 20.5212 SLC35F1 0 genome.wustl.edu 37 6 118588225 118588225 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 118588225 118588225 A G SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known missense c.545 p.K182R 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 728 0 0 450 98 17.8832 CEP85L 0 genome.wustl.edu 37 6 118845081 118845081 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 118845081 118845081 A G SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.1032 p.V344 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 134 0 0 113 25 18.1159 MCM9 0 genome.wustl.edu 37 6 119252713 119252713 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 119252713 119252713 T C SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.176 p.N59S 0.411 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 246 0 0 169 33 16.3366 FAM184A 0 genome.wustl.edu 37 6 119345686 119345686 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 119345686 119345686 A G SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.452 p.I151T 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 187 0 0 154 42 21.4286 HIVEP1 0 genome.wustl.edu 37 6 12131031 12131031 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 12131031 12131031 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known nonsense c.6241 p.R2081* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 152 0 0 91 27 22.8814 PKIB 0 genome.wustl.edu 37 6 123039072 123039072 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 123039072 123039072 T C SNP PKIB ENST00000258014 human ensembl 74_37 +1 known silent c.154 p.L52 0.004 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIB HGNC ENSG00000135549 162 0 0 108 31 22.3022 STL 0 genome.wustl.edu 37 6 125233370 125233370 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 125233370 125233370 A G SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 98 0 0 76 17 18.2796 LAMA2 0 genome.wustl.edu 37 6 129511376 129511376 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 129511376 129511376 T C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.1494 p.S498 0.991 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 172 0 0 136 23 14.4654 LAMA2 0 genome.wustl.edu 37 6 129649468 129649468 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 129649468 129649468 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.4222 p.R1408C 0.141 smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 177 0 0 146 39 21.0811 LAMA2 0 genome.wustl.edu 37 6 129802514 129802514 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 129802514 129802514 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.7679 p.S2560F 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 252 0 0 181 49 21.3043 MED23 0 genome.wustl.edu 37 6 131911475 131911475 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 131911475 131911475 C T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3812 p.R1271H 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 124 0 0 91 22 19.469 MED23 0 genome.wustl.edu 37 6 131944545 131944545 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 131944545 131944545 A G SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.342 p.L114 0.999 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 207 0 0 134 26 16.25 ENPP3 0 genome.wustl.edu 37 6 132006573 132006573 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 132006573 132006573 A G SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.1190 p.Y397C 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 396 0 0 297 57 16.1017 TAAR6 0 genome.wustl.edu 37 6 132892197 132892197 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 132892197 132892197 A G SNP TAAR6 ENST00000275198 human ensembl 74_37 +1 known missense c.737 p.K246R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR6 HGNC ENSG00000146383 117 0 0 86 19 18.0952 VNN2 0 genome.wustl.edu 37 6 133079002 133079002 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 133079002 133079002 T G SNP VNN2 ENST00000326499 human ensembl 74_37 -1 known silent c.21 p.P7 0.000 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 137 0 0 89 29 24.5763 ALDH8A1 0 genome.wustl.edu 37 6 135239850 135239850 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 135239850 135239850 C T SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known silent c.1167 p.T389 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 204 0 0 140 34 19.5402 SIRT5 0 genome.wustl.edu 37 6 13595769 13595769 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 13595769 13595769 C A SNP SIRT5 ENST00000606117 human ensembl 74_37 +1 known missense c.536 p.P179Q 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 247 0 0 157 31 16.4894 BCLAF1 0 genome.wustl.edu 37 6 136599140 136599140 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 136599140 136599140 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.879 p.H293 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 156 0 0 129 14 9.79021 BCLAF1 0 genome.wustl.edu 37 6 136600996 136600996 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 136600996 136600996 G A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.9 p.R3 0.999 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 114 0 0 75 25 25 MAP7 0 genome.wustl.edu 37 6 136682268 136682268 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 136682268 136682268 G A SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.1642 p.R548C 0.539 pfam_MAP7 pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 33 0 0 29 5 14.7059 MAP7 0 genome.wustl.edu 37 6 136732783 136732783 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 136732783 136732783 T C SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known silent c.285 p.R95 0.085 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 12 0 0 4 4 50 IL20RA 0 genome.wustl.edu 37 6 137329777 137329777 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 137329777 137329777 C T SNP IL20RA ENST00000316649 human ensembl 74_37 -1 known missense c.683 p.R228H 0.000 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 302 0 0 175 42 19.3548 KIAA1244 0 genome.wustl.edu 37 6 138584111 138584111 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 138584111 138584111 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.1491 p.N497 0.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 17 0 0 13 6 31.5789 REPS1 0 genome.wustl.edu 37 6 139262580 139262580 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 139262580 139262580 A G SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.1027 p.F343L 1.000 smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 332 0 0 205 43 17.3387 HECA 0 genome.wustl.edu 37 6 139488248 139488248 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 139488248 139488248 C T SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.1099 p.R367C 1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 93 0 0 59 27 31.3953 TXLNB 0 genome.wustl.edu 37 6 139563930 139563930 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 139563930 139563930 T A SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known silent c.1788 p.G596 0.000 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 190 0 0 142 37 20.6704 HIVEP2 0 genome.wustl.edu 37 6 143093607 143093607 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 143093607 143093607 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2269 p.R757C 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 85 0 0 59 13 18.0556 UTRN 0 genome.wustl.edu 37 6 145095484 145095484 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 145095484 145095484 A G SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.8616 p.L2872 0.218 pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 98 0 0 67 22 24.7191 FBXO30 0 genome.wustl.edu 37 6 146127309 146127309 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 146127309 146127309 T C SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known missense c.233 p.E78G 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 407 0 0 301 75 19.9468 SHPRH 0 genome.wustl.edu 37 6 146267451 146267451 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 146267451 146267451 C T SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known silent c.1239 p.P413 0.995 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 109 0 0 67 5 6.94444 SASH1 0 genome.wustl.edu 37 6 148865705 148865705 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 148865705 148865705 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.3099 p.S1033 0.005 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 37 0 0 42 11 20.7547 GINM1 0 genome.wustl.edu 37 6 149911891 149911891 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 149911891 149911891 G A SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known missense c.910 p.V304I 0.000 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 106 0 0 71 24 25.2632 LATS1 0 genome.wustl.edu 37 6 150004383 150004383 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 150004383 150004383 A G SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known silent c.1842 p.P614 0.677 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 254 1 0.392157 181 43 19.1964 LATS1 0 genome.wustl.edu 37 6 150004895 150004895 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 150004895 150004895 A G SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.1330 p.S444P 0.626 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 516 0 0 352 91 20.5418 PLEKHG1 0 genome.wustl.edu 37 6 151130245 151130245 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 151130245 151130245 T C SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.917 p.I306T 0.999 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 78 0 0 72 11 13.253 AKAP12 0 genome.wustl.edu 37 6 151671447 151671447 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 151671447 151671447 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.1921 p.A641T 0.975 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 96 0 0 57 15 20.8333 AKAP12 0 genome.wustl.edu 37 6 151674211 151674211 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 151674211 151674211 T C SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.4685 p.V1562A 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 218 1 0.456621 156 35 18.3246 CCDC170 0 genome.wustl.edu 37 6 151917602 151917602 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 151917602 151917602 A C SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.1600 p.T534P 0.005 superfamily_Prefoldin superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 134 0 0 104 25 19.3798 SYNE1 0 genome.wustl.edu 37 6 152454461 152454461 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 152454461 152454461 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.25951 p.R8651C 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 431 2 0.461894 310 70 18.4211 SYNE1 0 genome.wustl.edu 37 6 152643022 152643022 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 152643022 152643022 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site c.15918-1 e81-1 1.000 - - - no_errors SYNE1 HGNC ENSG00000131018 208 0 0 162 36 18.1818 SYNE1 0 genome.wustl.edu 37 6 152786491 152786491 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 152786491 152786491 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1834 p.I612V 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 190 1 0.52356 146 26 15.1163 SYNE1 0 genome.wustl.edu 37 6 152831446 152831446 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 152831446 152831446 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.463 p.V155M 0.246 superfamily_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 172 0 0 130 37 22.1557 MTRF1L 0 genome.wustl.edu 37 6 153315653 153315653 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 153315653 153315653 T C SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known missense c.682 p.T228A 0.998 pfam_Pep_chain_release_fac_I_II pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 174 0 0 132 41 23.6994 SCAF8 0 genome.wustl.edu 37 6 155114029 155114029 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 155114029 155114029 T C SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known silent c.592 p.L198 0.173 superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 151 0 0 78 16 17.0213 ARID1B 0 genome.wustl.edu 37 6 157522190 157522190 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 157522190 157522190 C G SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.4582 p.P1528A 0.715 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 76 0 0 63 15 19.2308 TMEM242 0 genome.wustl.edu 37 6 157739925 157739925 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 157739925 157739925 C T SNP TMEM242 ENST00000400788 human ensembl 74_37 -1 known silent c.216 p.P72 0.992 pfam_DUF1358 pfam_DUF1358 - no_errors TMEM242 HGNC ENSG00000215712 141 0 0 105 27 20.4545 SYNJ2 0 genome.wustl.edu 37 6 158483115 158483115 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 158483115 158483115 T C SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.1046 p.L349S 1.000 pfscan_Syja_N pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 412 0 0 284 72 20.2247 OSTCP1 0 genome.wustl.edu 37 6 159262697 159262697 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 159262697 159262697 A G SNP OSTCP1 ENST00000522287 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors OSTCP1 HGNC ENSG00000243775 139 0 0 114 28 19.7183 FNDC1 0 genome.wustl.edu 37 6 159642717 159642717 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 159642717 159642717 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.755 p.R252Q 0.977 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 89 0 0 59 8 11.9403 ACAT2 0 genome.wustl.edu 37 6 160197274 160197274 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160197274 160197274 A G SNP ACAT2 ENST00000541436 human ensembl 74_37 +1 known missense c.814 p.T272A 0.852 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT2 HGNC ENSG00000120437 100 0 0 58 15 20.5479 IGF2R 0 genome.wustl.edu 37 6 160466820 160466820 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160466820 160466820 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.1809 p.G603 0.911 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 410 1 0.243309 277 70 20.1729 IGF2R 0 genome.wustl.edu 37 6 160494304 160494304 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160494304 160494304 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.4750 p.V1584M 0.727 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 84 0 0 63 8 11.2676 SLC22A1 0 genome.wustl.edu 37 6 160553306 160553306 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160553306 160553306 C T SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known silent c.558 p.N186 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 331 0 0 218 38 14.8438 SLC22A1 0 genome.wustl.edu 37 6 160560826 160560826 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160560826 160560826 C T SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known silent c.1203 p.G401 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 68 0 0 67 22 24.7191 SLC22A3 0 genome.wustl.edu 37 6 160819102 160819102 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160819102 160819102 A G SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known missense c.521 p.Y174C 0.926 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 232 0 0 177 40 18.4332 SLC22A3 0 genome.wustl.edu 37 6 160858109 160858109 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160858109 160858109 T G SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known missense c.1154 p.I385S 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 327 0 0 206 48 18.8976 LPAL2 0 genome.wustl.edu 37 6 160888714 160888714 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160888714 160888714 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LPAL2 HGNC ENSG00000213071 134 0 0 96 27 21.9512 LPAL2 0 genome.wustl.edu 37 6 160898249 160898249 + RNA SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 160898249 160898249 A T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LPAL2 HGNC ENSG00000213071 187 0 0 132 22 14.2857 LPA 0 genome.wustl.edu 37 6 161007564 161007564 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 161007564 161007564 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4046 p.T1349M 0.337 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 175 0 0 129 39 23.2143 PLG 0 genome.wustl.edu 37 6 161162399 161162399 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 161162399 161162399 T C SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.2075 p.V692A 0.041 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 139 0 0 86 23 21.1009 MYLIP 0 genome.wustl.edu 37 6 16141988 16141988 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 16141988 16141988 G T SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.411 p.K137N 0.996 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 92 0 0 92 19 17.1171 MAP3K4 0 genome.wustl.edu 37 6 161523764 161523764 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 161523764 161523764 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.3809 p.S1270F 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 51 0 0 29 7 19.4444 AGPAT4 0 genome.wustl.edu 37 6 161653160 161653160 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 161653160 161653160 T C SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.86 p.N29S 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 82 0 0 55 13 19.1176 ATXN1 0 genome.wustl.edu 37 6 16326947 16326947 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 16326947 16326947 T C SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.1595 p.N532S 0.999 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 117 0 0 84 13 13.4021 C6orf118 0 genome.wustl.edu 37 6 165711553 165711553 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 165711553 165711553 G A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.974 p.P325L 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 81 0 0 39 13 25 MLLT4-AS1 0 genome.wustl.edu 37 6 168227221 168227221 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 168227221 168227221 T C SNP MLLT4-AS1 ENST00000359760 human ensembl 74_37 -1 known rna NULL NULL 0.714 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 63 0 0 47 13 21.6667 SMOC2 0 genome.wustl.edu 37 6 168947819 168947819 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 168947819 168947819 T C SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.565 p.L189 0.514 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 234 0 0 150 28 15.7303 SMOC2 0 genome.wustl.edu 37 6 169064767 169064767 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 169064767 169064767 T C SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.1332 p.H444 0.057 NULL pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 110 0 0 75 15 16.6667 THBS2 0 genome.wustl.edu 37 6 169621532 169621532 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 169621532 169621532 A G SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.3364 p.Y1122H 0.998 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 155 0 0 127 20 13.6054 THBS2 0 genome.wustl.edu 37 6 169625316 169625316 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 169625316 169625316 A G SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.2697 p.D899 0.787 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 44 0 0 45 10 18.1818 THBS2 0 genome.wustl.edu 37 6 169625355 169625355 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 169625355 169625355 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.2658 p.D886 1.000 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 34 0 0 24 7 22.5806 THBS2 0 genome.wustl.edu 37 6 169648841 169648841 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 169648841 169648841 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.280 p.G94S 0.896 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 89 0 0 60 14 18.9189 DLL1 0 genome.wustl.edu 37 6 170597560 170597560 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 170597560 170597560 C T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.437 p.R146H 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 63 0 0 28 5 15.1515 FAM120B 0 genome.wustl.edu 37 6 170632185 170632185 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 170632185 170632185 G A SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known missense c.1822 p.V608I 0.856 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 84 0 0 62 20 24.3902 NUP153 0 genome.wustl.edu 37 6 17628924 17628924 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 17628924 17628924 G A SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3599 p.A1200V 0.598 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 65 0 0 44 14 24.1379 NUP153 0 genome.wustl.edu 37 6 17637582 17637582 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 17637582 17637582 G A SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known nonsense c.2359 p.R787* 0.996 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 331 1 0.301205 225 69 23.4694 PRL 0 genome.wustl.edu 37 6 22290499 22290499 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 22290499 22290499 A G SNP PRL ENST00000306482 human ensembl 74_37 -1 known silent c.396 p.G132 0.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 150 0 0 102 20 16.3934 MRS2 0 genome.wustl.edu 37 6 24403466 24403466 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 24403466 24403466 T C SNP MRS2 ENST00000443868 human ensembl 74_37 +1 known splice_site c.190+2 e1+2 0.431 - - - no_errors MRS2 HGNC ENSG00000124532 23 0 0 17 6 26.087 MRS2 0 genome.wustl.edu 37 6 24423918 24423918 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 24423918 24423918 G A SNP MRS2 ENST00000443868 human ensembl 74_37 +1 known missense c.1337 p.R446H 0.674 NULL NULL - no_errors MRS2 HGNC ENSG00000124532 48 0 0 26 8 23.5294 TDP2 0 genome.wustl.edu 37 6 24666997 24666997 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 24666997 24666997 A G SNP TDP2 ENST00000545995 human ensembl 74_37 -1 known missense c.184 p.F62L 0.124 superfamily_UBA-like pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 374 0 0 230 39 14.4981 SCGN 0 genome.wustl.edu 37 6 25652698 25652698 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 25652698 25652698 C T SNP SCGN ENST00000377961 human ensembl 74_37 +1 known missense c.67 p.R23C 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SCGN HGNC ENSG00000079689 49 0 0 39 6 13.3333 HIST1H2BB 0 genome.wustl.edu 37 6 26043727 26043727 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 26043727 26043727 G A SNP HIST1H2BB ENST00000357905 human ensembl 74_37 -1 known silent c.159 p.T53 0.008 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 318 0 0 227 56 19.788 HIST1H1C 0 genome.wustl.edu 37 6 26056487 26056487 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 26056487 26056487 A G SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.170 p.V57A 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 204 0 0 128 25 16.3399 HIST1H2BD 0 genome.wustl.edu 37 6 26158506 26158506 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 26158506 26158506 A T SNP HIST1H2BD ENST00000289316 human ensembl 74_37 +1 known missense c.109 p.S37C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BD HGNC ENSG00000158373 322 0 0 205 51 19.9219 HIST1H2BH 0 genome.wustl.edu 37 6 26251978 26251978 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 26251978 26251978 C T SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known missense c.100 p.R34C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 210 0 0 140 52 27.0833 BTN2A1 0 genome.wustl.edu 37 6 26463655 26463655 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 26463655 26463655 C T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.614 p.T205M 0.007 pfam_CD80_C2-set pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A1 HGNC ENSG00000112763 197 1 0.505051 164 51 23.7209 HIST1H2AH 0 genome.wustl.edu 37 6 27114940 27114940 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 27114940 27114940 T C SNP HIST1H2AH ENST00000377459 human ensembl 74_37 +1 known silent c.33 p.A11 0.989 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 141 0 0 91 20 18.018 HIST1H4L 0 genome.wustl.edu 37 6 27841075 27841075 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 27841075 27841075 T C SNP HIST1H4L ENST00000355981 human ensembl 74_37 -1 known missense c.214 p.T72A 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 81 0 0 65 22 25.2874 ZNF165 0 genome.wustl.edu 37 6 28056918 28056918 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 28056918 28056918 A T SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known missense c.1128 p.E376D 0.787 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 113 0 0 79 19 19.3878 ZSCAN16 0 genome.wustl.edu 37 6 28093556 28093556 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 28093556 28093556 C T SNP ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known missense c.335 p.A112V 0.997 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 50 0 0 46 16 25.8065 ZSCAN9 0 genome.wustl.edu 37 6 28200920 28200920 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 28200920 28200920 C T SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known silent c.1149 p.R383 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN9 HGNC ENSG00000137185 101 0 0 77 14 15.3846 NKAPL 0 genome.wustl.edu 37 6 28227368 28227368 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 28227368 28227368 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known silent c.219 p.G73 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 107 0 0 73 26 26.2626 ZSCAN31 0 genome.wustl.edu 37 6 28294405 28294405 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 28294405 28294405 T C SNP ZSCAN31 ENST00000344279 human ensembl 74_37 -1 known silent c.759 p.V253 0.170 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN31 HGNC ENSG00000235109 203 0 0 149 24 13.8728 ZNF311 0 genome.wustl.edu 37 6 28963503 28963503 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 28963503 28963503 G A SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.1276 p.R426W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF311 HGNC ENSG00000197935 167 0 0 121 25 17.1233 OR2B3 0 genome.wustl.edu 37 6 29054534 29054534 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29054534 29054534 A G SNP OR2B3 ENST00000377173 human ensembl 74_37 -1 known silent c.492 p.L164 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B3 HGNC ENSG00000204703 112 0 0 59 16 21.3333 OR2J2 0 genome.wustl.edu 37 6 29141711 29141711 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29141711 29141711 T C SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.299 p.V100A 0.164 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 447 0 0 307 86 21.883 OR2J2 0 genome.wustl.edu 37 6 29142197 29142197 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29142197 29142197 A G SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.785 p.Q262R 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 286 0 0 169 40 19.1388 OR14J1 0 genome.wustl.edu 37 6 29275052 29275052 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29275052 29275052 G A SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.586 p.A196T 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 292 0 0 245 55 18.3333 OR11A1 0 genome.wustl.edu 37 6 29394640 29394640 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29394640 29394640 T C SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.779 p.Y260C 0.106 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 182 0 0 115 38 24.8366 HLA-F 0 genome.wustl.edu 37 6 29694737 29694737 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29694737 29694737 T A SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.1114 p.Y372N 1.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 297 0 0 205 50 19.6078 HLA-G 0 genome.wustl.edu 37 6 29796520 29796520 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 29796520 29796520 G A SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known missense c.559 p.A187T 0.003 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 99 0 0 82 10 10.8696 TRIM31 0 genome.wustl.edu 37 6 30078246 30078246 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30078246 30078246 C T SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known missense c.723 p.M241I 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 280 0 0 194 47 19.5021 HLA-L 0 genome.wustl.edu 37 6 30228370 30228370 + RNA SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30228370 30228370 C A SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.759 - - - no_errors HLA-L HGNC ENSG00000243753 59 0 0 47 11 18.9655 IER3 0 genome.wustl.edu 37 6 30712102 30712102 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30712102 30712102 A G SNP IER3 ENST00000259874 human ensembl 74_37 -1 known missense c.194 p.V65A 1.000 NULL NULL - no_errors IER3 HGNC ENSG00000137331 38 0 0 19 6 24 DDR1 0 genome.wustl.edu 37 6 30866961 30866961 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30866961 30866961 C T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.2648 p.P883L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 249 0 0 146 24 14.1176 DDR1 0 genome.wustl.edu 37 6 30867847 30867847 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30867847 30867847 A T SNP DDR1 ENST00000361741 human ensembl 74_37 +1 known missense c.1314 p.R438S 1.000 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DDR1 HGNC ENSG00000204580 473 0 0 306 70 18.617 VARS2 0 genome.wustl.edu 37 6 30887979 30887979 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30887979 30887979 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.1369 p.G457R 0.985 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 73 0 0 65 10 13.3333 TUBB2A 0 genome.wustl.edu 37 6 3154142 3154142 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 3154142 3154142 G A SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known silent c.1293 p.D431 0.209 prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 98 0 0 70 29 29.2929 PRRC2A 0 genome.wustl.edu 37 6 31594921 31594921 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31594921 31594921 A G SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.1236 p.L412 0.996 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 44 0 0 17 7 29.1667 HSPA1L 0 genome.wustl.edu 37 6 31779558 31779558 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31779558 31779558 A G SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.192 p.N64 0.989 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 280 1 0.355872 211 56 20.9738 EHMT2 0 genome.wustl.edu 37 6 31851644 31851644 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31851644 31851644 T C SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.3026 p.Y1009C 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 188 0 0 117 38 24.5161 TNXB 0 genome.wustl.edu 37 6 32017065 32017065 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 32017065 32017065 A G SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9733 p.S3245P 0.998 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 20 0 0 18 8 30.7692 TNXB 0 genome.wustl.edu 37 6 32020473 32020473 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 32020473 32020473 C G SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9083 p.G3028A 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 59 0 0 65 6 8.4507 C6orf10 0 genome.wustl.edu 37 6 32304400 32304400 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 32304400 32304400 G A SNP C6orf10 ENST00000447241 human ensembl 74_37 -1 known missense c.422 p.A141V 1.000 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 70 0 0 37 7 15.9091 HLA-DQB1 0 genome.wustl.edu 37 6 32632719 32632719 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 32632719 32632719 A G SNP HLA-DQB1 ENST00000374943 human ensembl 74_37 -1 known missense c.235 p.Y79H 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB1 HGNC ENSG00000179344 109 0 0 69 40 36.6972 BRD2 0 genome.wustl.edu 37 6 32944141 32944141 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 32944141 32944141 A G SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.725 p.H242R 0.984 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 180 1 0.552486 125 34 21.3836 RING1 0 genome.wustl.edu 37 6 33177562 33177562 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 33177562 33177562 G A SNP RING1 ENST00000374656 human ensembl 74_37 +1 known missense c.238 p.G80R 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 110 0 0 69 16 18.8235 WDR46 0 genome.wustl.edu 37 6 33246996 33246996 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 33246996 33246996 A G SNP WDR46 ENST00000461951 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR46 HGNC ENSG00000227057 162 0 0 106 26 19.697 TAPBP 0 genome.wustl.edu 37 6 33281604 33281604 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 33281604 33281604 G A SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known silent c.75 p.I25 0.047 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 88 0 0 67 22 24.7191 SYNGAP1 0 genome.wustl.edu 37 6 33411288 33411288 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 33411288 33411288 G A SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.2959 p.D987N 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 366 0 0 267 56 17.3375 ANKS1A 0 genome.wustl.edu 37 6 34937796 34937796 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 34937796 34937796 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known silent c.288 p.V96 0.981 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 129 0 0 77 30 28.0374 SRPK1 0 genome.wustl.edu 37 6 35806156 35806156 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 35806156 35806156 T C SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known missense c.1741 p.I581V 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK1 HGNC ENSG00000096063 38 0 0 32 2 5.88235 SRPK1 0 genome.wustl.edu 37 6 35854499 35854499 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 35854499 35854499 A G SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known splice_site c.478+2 e6+2 1.000 - - - no_errors SRPK1 HGNC ENSG00000096063 52 0 0 42 8 16 SLC26A8 0 genome.wustl.edu 37 6 35919034 35919034 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 35919034 35919034 A T SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.2378 p.L793Q 1.000 pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 169 0 0 101 19 15.8333 SLC26A8 0 genome.wustl.edu 37 6 35930388 35930388 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 35930388 35930388 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.1376 p.A459V 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 126 1 0.787402 79 24 23.301 PNPLA1 0 genome.wustl.edu 37 6 36274133 36274133 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 36274133 36274133 C T SNP PNPLA1 ENST00000457797 human ensembl 74_37 +1 known silent c.1452 p.T484 0.020 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 295 0 0 192 37 16.1572 FGD2 0 genome.wustl.edu 37 6 36993651 36993651 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 36993651 36993651 C T SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known silent c.1542 p.Y514 0.995 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 94 0 0 59 16 21.3333 TBC1D22B 0 genome.wustl.edu 37 6 37298880 37298880 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 37298880 37298880 C T SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known silent c.1450 p.L484 0.999 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 279 0 0 186 35 15.8371 DNAH8 0 genome.wustl.edu 37 6 38723785 38723785 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 38723785 38723785 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.794 p.A265V 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 175 0 0 133 17 11.3333 DNAH8 0 genome.wustl.edu 37 6 38843564 38843564 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 38843564 38843564 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.7167 p.G2389 0.254 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 102 0 0 74 23 23.7113 DNAH8 0 genome.wustl.edu 37 6 38919215 38919215 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 38919215 38919215 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.11719 p.R3907W 0.486 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 553 0 0 380 85 18.2796 DNAH8 0 genome.wustl.edu 37 6 38998045 38998045 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 38998045 38998045 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.13350 p.C4450 0.998 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 166 0 0 122 37 23.2704 KCNK17 0 genome.wustl.edu 37 6 39267322 39267322 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 39267322 39267322 G A SNP KCNK17 ENST00000373231 human ensembl 74_37 -1 known missense c.880 p.P294S 0.001 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK17 HGNC ENSG00000124780 135 0 0 93 25 21.1864 TREML3P 0 genome.wustl.edu 37 6 41184902 41184902 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 41184902 41184902 A G SNP TREML3P ENST00000564680 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TREML3P HGNC ENSG00000184106 175 1 0.568182 103 19 15.5738 MED20 0 genome.wustl.edu 37 6 41874716 41874716 + RNA SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 41874716 41874716 C A SNP MED20 ENST00000467535 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED20 HGNC ENSG00000124641 24 0 0 28 6 17.6471 MED20 0 genome.wustl.edu 37 6 41875024 41875024 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 41875024 41875024 A G SNP MED20 ENST00000265350 human ensembl 74_37 -1 known missense c.425 p.V142A 1.000 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC ENSG00000124641 30 0 0 24 9 27.2727 UBR2 0 genome.wustl.edu 37 6 42620271 42620271 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 42620271 42620271 C G SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.2657 p.A886G 0.999 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 540 0 0 341 65 16.0099 UBR2 0 genome.wustl.edu 37 6 42650804 42650804 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 42650804 42650804 A G SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.4730 p.N1577S 0.938 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 159 0 0 120 25 17.2414 CUL7 0 genome.wustl.edu 37 6 43012495 43012495 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43012495 43012495 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.3419 p.S1140F 0.005 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 123 0 0 75 21 21.875 MRPL2 0 genome.wustl.edu 37 6 43023745 43023745 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43023745 43023745 A G SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known missense c.521 p.V174A 1.000 NULL pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 56 0 0 54 10 15.625 MRPL2 0 genome.wustl.edu 37 6 43025842 43025842 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43025842 43025842 G A SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known missense c.226 p.P76S 1.000 NULL pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 243 0 0 192 50 20.6612 TTBK1 0 genome.wustl.edu 37 6 43226884 43226884 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43226884 43226884 C T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.1125 p.P375 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 112 0 0 66 20 23.2558 ZNF318 0 genome.wustl.edu 37 6 43308192 43308192 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43308192 43308192 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.3544 p.R1182C 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 172 0 0 138 27 16.3636 ABCC10 0 genome.wustl.edu 37 6 43410857 43410857 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43410857 43410857 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.2376 p.D792 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 62 0 0 54 12 18.1818 TMEM63B 0 genome.wustl.edu 37 6 44116270 44116270 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 44116270 44116270 T C SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.1142 p.V381A 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 128 1 0.775194 86 24 21.8182 SLC35B2 0 genome.wustl.edu 37 6 44222329 44222329 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 44222329 44222329 G A SNP SLC35B2 ENST00000495706 human ensembl 74_37 -1 known rna NULL NULL 0.068 - - - no_errors SLC35B2 HGNC ENSG00000157593 25 0 0 31 5 13.8889 TCTE1 0 genome.wustl.edu 37 6 44250298 44250298 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 44250298 44250298 T C SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known splice_site c.847-2 e3-2 1.000 - - - no_errors TCTE1 HGNC ENSG00000146221 71 0 0 47 12 20.339 TCTE1 0 genome.wustl.edu 37 6 44253990 44253990 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 44253990 44253990 T A SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.557 p.N186I 0.799 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 73 0 0 54 13 19.403 GPR116 0 genome.wustl.edu 37 6 46826170 46826170 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 46826170 46826170 G A SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3470 p.T1157M 0.183 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 72 0 0 46 11 19.2982 GPR115 0 genome.wustl.edu 37 6 47682298 47682298 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 47682298 47682298 T C SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known silent c.1488 p.R496 0.463 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 323 0 0 289 89 23.545 RHAG 0 genome.wustl.edu 37 6 49574880 49574880 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 49574880 49574880 A G SNP RHAG ENST00000371175 human ensembl 74_37 -1 known missense c.1121 p.V374A 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 58 0 0 22 9 29.0323 PGK2 0 genome.wustl.edu 37 6 49753787 49753787 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 49753787 49753787 C T SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known missense c.1114 p.G372R 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 375 0 0 244 51 17.2881 TFAP2D 0 genome.wustl.edu 37 6 50681777 50681777 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 50681777 50681777 T C SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known silent c.9 p.T3 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 183 0 0 105 32 23.3577 FARS2 0 genome.wustl.edu 37 6 5369143 5369143 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 5369143 5369143 G A SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.340 p.D114N 0.997 pfam_Phenylalanyl-tRNA_Synthase pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 58 0 0 57 14 19.7183 MLIP 0 genome.wustl.edu 37 6 54025582 54025582 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 54025582 54025582 T C SNP MLIP ENST00000274897 human ensembl 74_37 +1 known silent c.879 p.G293 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 131 1 0.757576 95 18 15.9292 FAM83B 0 genome.wustl.edu 37 6 54805207 54805207 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 54805207 54805207 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known nonsense c.1438 p.R480* 0.946 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 209 0 0 118 35 22.8758 FAM83B 0 genome.wustl.edu 37 6 54806569 54806569 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 54806569 54806569 T C SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2800 p.Y934H 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 183 0 0 135 35 20.5882 GFRAL 0 genome.wustl.edu 37 6 55264054 55264054 + Silent SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 55264054 55264054 A T SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known silent c.1029 p.G343 0.959 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 76 0 0 54 13 19.403 HMGCLL1 0 genome.wustl.edu 37 6 55441964 55441964 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 55441964 55441964 G A SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.110 p.T37I 0.001 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 17 0 0 15 3 16.6667 BMP5 0 genome.wustl.edu 37 6 55684535 55684535 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 55684535 55684535 A G SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.601 p.Y201H 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 124 0 0 93 28 23.1405 DST 0 genome.wustl.edu 37 6 56468029 56468029 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 56468029 56468029 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.11032 p.I3678F 0.014 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 41 0 0 23 4 14.8148 KHDRBS2 0 genome.wustl.edu 37 6 62688109 62688109 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 62688109 62688109 T C SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known silent c.345 p.E115 0.924 smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 139 0 0 90 21 18.9189 PHF3 0 genome.wustl.edu 37 6 64408425 64408425 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 64408425 64408425 G A SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.2912 p.R971Q 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 133 0 0 110 19 14.7287 LMBRD1 0 genome.wustl.edu 37 6 70490403 70490403 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 70490403 70490403 A G SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.290 p.V97A 0.999 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 187 0 0 119 33 21.7105 COL19A1 0 genome.wustl.edu 37 6 70831829 70831829 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 70831829 70831829 A G SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.1336 p.N446D 0.974 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 269 0 0 153 41 21.134 COL19A1 0 genome.wustl.edu 37 6 70909413 70909413 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 70909413 70909413 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.3196 p.G1066R 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 153 0 0 90 30 25 RIMS1 0 genome.wustl.edu 37 6 72806716 72806716 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 72806716 72806716 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.310 p.R104C 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 57 0 0 53 13 19.697 RIOK1 0 genome.wustl.edu 37 6 7414583 7414583 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 7414583 7414583 G A SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.1556 p.R519H 0.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 198 1 0.502513 143 37 20.5556 SLC17A5 0 genome.wustl.edu 37 6 74348179 74348179 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 74348179 74348179 G A SNP SLC17A5 ENST00000355773 human ensembl 74_37 -1 known missense c.569 p.A190V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 82 0 0 55 12 17.9104 CD109 0 genome.wustl.edu 37 6 74512960 74512960 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 74512960 74512960 C T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2896 p.L966F 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 158 0 0 99 32 24.4275 CD109 0 genome.wustl.edu 37 6 74516797 74516797 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 74516797 74516797 T C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known splice_site c.3189+2 e25+2 1.000 - - - no_errors CD109 HGNC ENSG00000156535 89 0 0 74 7 8.64198 DSP 0 genome.wustl.edu 37 6 7580913 7580913 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 7580913 7580913 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.4490 p.R1497Q 0.095 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 146 0 0 96 36 27.2727 COL12A1 0 genome.wustl.edu 37 6 75848672 75848672 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 75848672 75848672 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4963 p.V1655M 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 135 0 0 104 26 20 TXNDC5 0 genome.wustl.edu 37 6 7904918 7904918 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 7904918 7904918 T C SNP TXNDC5 ENST00000379757 human ensembl 74_37 -1 known missense c.302 p.D101G 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 76 0 0 49 15 23.4375 IRAK1BP1 0 genome.wustl.edu 37 6 79577355 79577355 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 79577355 79577355 G A SNP IRAK1BP1 ENST00000369940 human ensembl 74_37 +1 known missense c.62 p.R21Q 0.056 NULL pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 163 0 0 98 21 17.6471 PHIP 0 genome.wustl.edu 37 6 79724917 79724917 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 79724917 79724917 A G SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.1406 p.V469A 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 128 0 0 80 22 21.5686 TTK 0 genome.wustl.edu 37 6 80749999 80749999 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 80749999 80749999 T C SNP TTK ENST00000369798 human ensembl 74_37 +1 known splice_site c.2392+2 e19+2 0.998 - - - no_errors TTK HGNC ENSG00000112742 115 0 0 76 21 21.6495 DOPEY1 0 genome.wustl.edu 37 6 83819867 83819867 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 83819867 83819867 T C SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.515 p.V172A 1.000 pfam_Dopey_N,superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 304 0 0 233 65 21.8121 PGM3 0 genome.wustl.edu 37 6 83891476 83891476 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 83891476 83891476 T C SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.766 p.S256G 1.000 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 216 0 0 155 40 20.5128 PRSS35 0 genome.wustl.edu 37 6 84234379 84234379 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 84234379 84234379 G A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.1219 p.D407N 0.992 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 73 0 0 44 10 18.5185 SNX14 0 genome.wustl.edu 37 6 86281916 86281916 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 86281916 86281916 T C SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.356 p.E119G 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 146 0 0 110 6 5.17241 ZNF292 0 genome.wustl.edu 37 6 87969203 87969203 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 87969203 87969203 T A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.5856 p.P1952 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 12 0 0 13 3 18.75 SLC35A1 0 genome.wustl.edu 37 6 88210879 88210879 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 88210879 88210879 A G SNP SLC35A1 ENST00000369552 human ensembl 74_37 +1 known missense c.358 p.T120A 1.000 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A1 HGNC ENSG00000164414 197 0 0 133 31 18.9024 CNR1 0 genome.wustl.edu 37 6 88853864 88853864 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 88853864 88853864 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.1130 p.T377M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 153 0 0 98 28 22.2222 PNRC1 0 genome.wustl.edu 37 6 89790771 89790771 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 89790771 89790771 C A SNP PNRC1 ENST00000336032 human ensembl 74_37 +1 known missense c.158 p.P53Q 0.247 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 67 0 0 39 18 31.5789 BACH2 0 genome.wustl.edu 37 6 90661192 90661192 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 90661192 90661192 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.633 p.D211 0.935 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 167 0 0 121 34 21.9355 BACH2 0 genome.wustl.edu 37 6 90661316 90661316 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 90661316 90661316 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.509 p.T170M 0.966 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 143 0 0 97 28 22.4 UFL1 0 genome.wustl.edu 37 6 96974251 96974251 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 96974251 96974251 T C SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known silent c.405 p.G135 0.998 pfam_E3_UFM1_ligase_1 pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 185 0 0 143 23 13.8554 NDUFAF4 0 genome.wustl.edu 37 6 97345721 97345721 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 97345721 97345721 A G SNP NDUFAF4 ENST00000489477 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NDUFAF4 HGNC ENSG00000123545 73 0 0 46 15 24.5902 KLHL32 0 genome.wustl.edu 37 6 97562108 97562108 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 97562108 97562108 T C SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known silent c.1077 p.S359 0.182 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 95 0 0 75 21 21.875 MMS22L 0 genome.wustl.edu 37 6 97679388 97679388 + Nonsense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 97679388 97679388 A T SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known nonsense c.1443 p.Y481* 0.034 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 113 0 0 70 23 24.7312 MMS22L 0 genome.wustl.edu 37 6 97715821 97715821 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 97715821 97715821 A T SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.755 p.I252N 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 79 0 0 61 12 16.4384 FBXL4 0 genome.wustl.edu 37 6 99328484 99328484 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 99328484 99328484 C T SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.1334 p.S445N 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 82 0 0 56 13 18.8406 COQ3 0 genome.wustl.edu 37 6 99828203 99828203 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 99828203 99828203 C T SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.248 p.R83K 0.240 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 99 0 0 65 21 24.4186 ZAN 0 genome.wustl.edu 37 7 100345207 100345207 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 100345207 100345207 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.966 p.Q322 0.246 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 122 0 0 86 21 19.6262 SLC12A9 0 genome.wustl.edu 37 7 100459368 100459368 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 100459368 100459368 T C SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.1546 p.Y516H 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 126 0 0 83 18 17.8218 SLC12A9 0 genome.wustl.edu 37 7 100463584 100463584 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 100463584 100463584 G T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.2102 p.R701L 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 118 0 0 78 25 24.2718 SRRT 0 genome.wustl.edu 37 7 100482368 100482368 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 100482368 100482368 A G SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.950 p.N317S 0.394 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 65 0 0 38 9 19.1489 LRWD1 0 genome.wustl.edu 37 7 102113440 102113440 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 102113440 102113440 A G SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.1888 p.T630A 0.902 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 93 0 0 77 11 12.5 LRRC17 0 genome.wustl.edu 37 7 102574928 102574928 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 102574928 102574928 G T SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.568 p.A190S 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 138 1 0.719424 129 40 23.6686 FBXL13 0 genome.wustl.edu 37 7 102669859 102669859 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 102669859 102669859 G A SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.7 p.P3S 1.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 41 0 0 22 7 24.1379 ARMC10 0 genome.wustl.edu 37 7 102738781 102738781 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 102738781 102738781 C T SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known silent c.813 p.H271 0.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 66 0 0 49 11 18.3333 DNAJC2 0 genome.wustl.edu 37 7 102963071 102963071 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 102963071 102963071 A G SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.820 p.Y274H 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 92 0 0 66 19 22.3529 SLC26A5 0 genome.wustl.edu 37 7 103029793 103029793 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 103029793 103029793 T C SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.1390 p.T464A 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 161 0 0 98 21 17.6471 SLC26A5 0 genome.wustl.edu 37 7 103033447 103033447 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 103033447 103033447 T C SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.1038 p.I346M 0.940 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 154 0 0 118 32 21.3333 KMT2E 0 genome.wustl.edu 37 7 104707256 104707256 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 104707256 104707256 T C SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known splice_site c.497+2 e4+2 1.000 - - - no_errors KMT2E HGNC ENSG00000005483 158 0 0 123 30 19.6078 SRPK2 0 genome.wustl.edu 37 7 104773245 104773245 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 104773245 104773245 G A SNP SRPK2 ENST00000393651 human ensembl 74_37 -1 known missense c.1745 p.A582V 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK2 HGNC ENSG00000135250 29 0 0 19 3 13.6364 PUS7 0 genome.wustl.edu 37 7 105111264 105111264 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 105111264 105111264 T G SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known missense c.1269 p.E423D 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 211 0 0 131 30 18.6335 PIK3CG 0 genome.wustl.edu 37 7 106508581 106508581 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 106508581 106508581 A G SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.575 p.D192G 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 81 0 0 62 11 15.0685 SLC26A4 0 genome.wustl.edu 37 7 107334918 107334918 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 107334918 107334918 T C SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.1334 p.L445S 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 122 0 0 68 19 21.8391 NRCAM 0 genome.wustl.edu 37 7 107808754 107808754 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 107808754 107808754 A G SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.3281 p.V1094A 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 88 0 0 60 13 17.8082 TMEM168 0 genome.wustl.edu 37 7 112423920 112423920 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 112423920 112423920 T C SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.961 p.T321A 1.000 superfamily_ConA-like_lec_gl_sf superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 420 0 0 303 62 16.9863 GPER1 0 genome.wustl.edu 37 7 1131459 1131459 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 1131459 1131459 A G SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.95 p.N32S 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 42 0 0 43 9 17.3077 THSD7A 0 genome.wustl.edu 37 7 11415490 11415490 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 11415490 11415490 T C SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.4905 p.K1635 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 222 0 0 144 28 16.2791 FOXP2 0 genome.wustl.edu 37 7 114270053 114270053 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 114270053 114270053 C T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.665 p.A222V 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 121 0 0 86 23 21.1009 THSD7A 0 genome.wustl.edu 37 7 11676323 11676323 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 11676323 11676323 A G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.456 p.G152 0.954 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 100 0 0 90 19 17.4312 ING3 0 genome.wustl.edu 37 7 120593419 120593419 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 120593419 120593419 A G SNP ING3 ENST00000315870 human ensembl 74_37 +1 known silent c.162 p.K54 0.995 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING3 HGNC ENSG00000071243 139 0 0 98 16 14.0351 PTPRZ1 0 genome.wustl.edu 37 7 121650430 121650430 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 121650430 121650430 A G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1330 p.N444D 0.978 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 193 0 0 122 25 17.0068 AASS 0 genome.wustl.edu 37 7 121753238 121753238 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 121753238 121753238 C T SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.1212 p.P404 0.010 NULL pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 105 0 0 80 22 21.5686 FEZF1 0 genome.wustl.edu 37 7 121944256 121944256 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 121944256 121944256 G T SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known missense c.236 p.P79H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 47 0 0 49 14 22.2222 IQUB 0 genome.wustl.edu 37 7 123109382 123109382 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 123109382 123109382 C T SNP IQUB ENST00000324698 human ensembl 74_37 -1 known silent c.1467 p.T489 0.991 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 239 0 0 133 51 27.7174 ASB15 0 genome.wustl.edu 37 7 123256454 123256454 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 123256454 123256454 A G SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.197 p.K66R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 107 0 0 79 24 23.301 SPAM1 0 genome.wustl.edu 37 7 123594255 123594255 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 123594255 123594255 C T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.631 p.R211W 0.036 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 229 0 0 156 29 15.6757 SPAM1 0 genome.wustl.edu 37 7 123594523 123594523 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 123594523 123594523 T C SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.899 p.V300A 0.969 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 117 0 0 84 24 22.2222 GRM8 0 genome.wustl.edu 37 7 126409971 126409971 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 126409971 126409971 A G SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.1305 p.S435 0.904 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_8 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 208 0 0 166 28 14.433 ATP6V1F 0 genome.wustl.edu 37 7 128505435 128505435 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 128505435 128505435 T C SNP ATP6V1F ENST00000249289 human ensembl 74_37 +1 known missense c.163 p.F55L 1.000 pfam_ATPase_V1-cplx_f_g_su,pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk pfam_ATPase_V1-cplx_f_g_su,pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk - no_errors ATP6V1F HGNC ENSG00000128524 67 0 0 42 8 16 STRIP2 0 genome.wustl.edu 37 7 129098164 129098164 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 129098164 129098164 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known nonsense c.1147 p.R383* 0.958 NULL pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 57 0 0 44 8 15.3846 STRIP2 0 genome.wustl.edu 37 7 129102882 129102882 + Splice_Site SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 129102882 129102882 G T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known splice_site c.1551+1 e14+1 1.000 - - - no_errors STRIP2 HGNC ENSG00000128578 131 0 0 88 22 20 MEST 0 genome.wustl.edu 37 7 130138019 130138019 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 130138019 130138019 G A SNP MEST ENST00000223215 human ensembl 74_37 +1 known missense c.379 p.V127M 1.000 pfam_AB_hydrolase_1,pfam_DUF1057 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC ENSG00000106484 149 0 0 106 42 28.3784 PLXNA4 0 genome.wustl.edu 37 7 131982902 131982902 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 131982902 131982902 T C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1451 p.D484G 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 146 0 0 82 20 19.6078 LRGUK 0 genome.wustl.edu 37 7 133859333 133859333 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 133859333 133859333 A G SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.965 p.Y322C 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 222 0 0 125 38 23.3129 KIAA1549 0 genome.wustl.edu 37 7 138601633 138601633 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 138601633 138601633 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.2739 p.S913 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 21 0 0 28 8 22.2222 C7orf55-LUC7L2 0 genome.wustl.edu 37 7 139107145 139107145 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 139107145 139107145 A G SNP C7orf55-LUC7L2 ENST00000482860 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C7orf55-LUC7L2 HGNC ENSG00000146963 58 0 0 50 13 20.6349 HIPK2 0 genome.wustl.edu 37 7 139315945 139315945 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 139315945 139315945 T C SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.1313 p.D438G 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 39 0 0 36 7 16.2791 BRAF 0 genome.wustl.edu 37 7 140434564 140434564 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 140434564 140434564 C T SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.2134 p.A712T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 163 0 0 108 33 23.4043 BRAF 0 genome.wustl.edu 37 7 140534520 140534520 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 140534520 140534520 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known silent c.393 p.L131 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 195 0 0 136 43 24.0223 SSBP1 0 genome.wustl.edu 37 7 141443490 141443490 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 141443490 141443490 T C SNP SSBP1 ENST00000265304 human ensembl 74_37 +1 known missense c.215 p.V72A 0.001 pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd - no_errors SSBP1 HGNC ENSG00000106028 183 0 0 116 32 21.6216 MGAM 0 genome.wustl.edu 37 7 141731569 141731569 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 141731569 141731569 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.1560 p.Q520 0.926 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 194 0 0 142 29 16.9591 PRSS1 0 genome.wustl.edu 37 7 142460323 142460323 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 142460323 142460323 C T SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known silent c.496 p.L166 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 624 0 0 411 59 12.5532 TRPV6 0 genome.wustl.edu 37 7 142574268 142574268 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 142574268 142574268 A G SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known silent c.655 p.L219 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 112 0 0 86 6 6.52174 CASP2 0 genome.wustl.edu 37 7 142989724 142989724 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 142989724 142989724 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known silent c.408 p.Y136 0.902 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 82 0 0 87 16 15.534 CASP2 0 genome.wustl.edu 37 7 142991808 142991808 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 142991808 142991808 T C SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known missense c.689 p.V230A 0.453 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 80 0 0 80 8 9.09091 EPHA1 0 genome.wustl.edu 37 7 143095474 143095474 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 143095474 143095474 C T SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known silent c.1404 p.A468 0.189 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 111 0 0 69 19 21.5909 ARHGEF5 0 genome.wustl.edu 37 7 144068315 144068315 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 144068315 144068315 A G SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known missense c.3593 p.D1198G 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 291 0 0 208 11 5.02283 C7orf33 0 genome.wustl.edu 37 7 148288118 148288118 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 148288118 148288118 G A SNP C7orf33 ENST00000307003 human ensembl 74_37 +1 known missense c.101 p.R34H 0.000 NULL NULL - no_errors C7orf33 HGNC ENSG00000170279 133 0 0 89 28 23.9316 ZNF398 0 genome.wustl.edu 37 7 148875952 148875952 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 148875952 148875952 G A SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known missense c.1003 p.G335S 0.983 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 421 0 0 316 79 20 ZNF212 0 genome.wustl.edu 37 7 148949824 148949824 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 148949824 148949824 C T SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.569 p.A190V 0.139 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF212 HGNC ENSG00000170260 69 0 0 48 9 15.7895 ZNF777 0 genome.wustl.edu 37 7 149148196 149148196 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 149148196 149148196 T C SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.981 p.A327 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 123 0 0 95 24 20.1681 ZNF777 0 genome.wustl.edu 37 7 149152530 149152530 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 149152530 149152530 A G SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.584 p.V195A 0.996 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 179 1 0.555556 120 34 22.0779 ZNF746 0 genome.wustl.edu 37 7 149189961 149189961 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 149189961 149189961 T C SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.509 p.D170G 1.000 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 58 0 0 29 16 35.5556 ZNF746 0 genome.wustl.edu 37 7 149191542 149191542 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 149191542 149191542 T C SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.77 p.E26G 1.000 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF746 HGNC ENSG00000181220 121 0 0 106 26 19.697 SSPO 0 genome.wustl.edu 37 7 149480000 149480000 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 149480000 149480000 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 23 0 0 20 6 23.0769 SSPO 0 genome.wustl.edu 37 7 149522125 149522125 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 149522125 149522125 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 19 0 0 14 9 39.1304 REPIN1 0 genome.wustl.edu 37 7 150069806 150069806 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 150069806 150069806 C T SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known silent c.1647 p.C549 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 50 0 0 40 9 18.3673 ZNF775 0 genome.wustl.edu 37 7 150094516 150094516 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 150094516 150094516 G A SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.947 p.R316H 0.908 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 21 0 0 16 7 30.4348 GIMAP8 0 genome.wustl.edu 37 7 150164279 150164279 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 150164279 150164279 T C SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.493 p.Y165H 0.334 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 203 0 0 128 30 18.9873 ASIC3 0 genome.wustl.edu 37 7 150746479 150746479 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 150746479 150746479 A G SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known silent c.507 p.Q169 0.015 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 73 0 0 66 7 9.58904 SMARCD3 0 genome.wustl.edu 37 7 150936814 150936814 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 150936814 150936814 A G SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known missense c.1192 p.S398P 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 154 0 0 125 24 16.1074 PRKAG2 0 genome.wustl.edu 37 7 151478262 151478262 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 151478262 151478262 T C SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known missense c.442 p.R148G 0.996 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 250 0 0 155 29 15.7609 KMT2C 0 genome.wustl.edu 37 7 151845715 151845715 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 151845715 151845715 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.13468 p.A4490T 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 205 0 0 118 39 24.8408 KMT2C 0 genome.wustl.edu 37 7 151859654 151859654 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 151859654 151859654 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.11008 p.N3670D 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 338 0 0 239 55 18.7075 KMT2C 0 genome.wustl.edu 37 7 151866269 151866269 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 151866269 151866269 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known splice_site c.9517+2 e41+2 1.000 - - - no_errors KMT2C HGNC ENSG00000055609 130 0 0 100 22 18.0328 DPP6 0 genome.wustl.edu 37 7 154263973 154263973 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 154263973 154263973 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.599 p.Y200C 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 96 0 0 58 12 17.1429 DPP6 0 genome.wustl.edu 37 7 154679440 154679440 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 154679440 154679440 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2300 p.Y767C 0.953 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 331 0 0 216 44 16.9231 PAXIP1 0 genome.wustl.edu 37 7 154748932 154748932 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 154748932 154748932 A G SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known splice_site c.2549+2 e14+2 1.000 - - - no_errors PAXIP1 HGNC ENSG00000157212 42 0 0 24 4 14.2857 RNF32 0 genome.wustl.edu 37 7 156437357 156437357 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 156437357 156437357 A G SNP RNF32 ENST00000317955 human ensembl 74_37 +1 known missense c.180 p.I60M 0.523 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 125 1 0.793651 98 17 14.7826 UBE3C 0 genome.wustl.edu 37 7 157000100 157000100 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 157000100 157000100 T C SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1427 p.V476A 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 325 2 0.611621 229 55 19.3662 PTPRN2 0 genome.wustl.edu 37 7 157414139 157414139 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 157414139 157414139 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2328 p.C776 0.985 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 370 1 0.269542 250 62 19.8718 PTPRN2 0 genome.wustl.edu 37 7 157929357 157929357 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 157929357 157929357 A G SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1232 p.L411P 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 188 0 0 121 22 15.3846 NCAPG2 0 genome.wustl.edu 37 7 158472666 158472666 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 158472666 158472666 A G SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.1132 p.F378L 1.000 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 241 0 0 181 39 17.7273 FAM20C 0 genome.wustl.edu 37 7 195593 195593 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 195593 195593 C T SNP FAM20C ENST00000313766 human ensembl 74_37 +1 known silent c.645 p.P215 0.433 NULL pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 55 0 0 44 7 13.7255 DNAH11 0 genome.wustl.edu 37 7 21598618 21598618 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 21598618 21598618 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known splice_site c.692+2 e3+2 0.991 - - - no_errors DNAH11 HGNC ENSG00000105877 11 0 0 15 4 21.0526 DNAH11 0 genome.wustl.edu 37 7 21744053 21744053 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 21744053 21744053 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.6296 p.V2099A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 56 0 0 32 7 17.9487 MALSU1 0 genome.wustl.edu 37 7 23340583 23340583 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 23340583 23340583 A G SNP MALSU1 ENST00000466681 human ensembl 74_37 +1 known missense c.382 p.S128G 0.996 pfam_Oligomer_dom,tigrfam_Iojap/RsfS pfam_Oligomer_dom,tigrfam_Iojap/RsfS - no_errors MALSU1 HGNC ENSG00000156928 503 0 0 351 102 22.5166 IGF2BP3 0 genome.wustl.edu 37 7 23387308 23387308 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 23387308 23387308 C T SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known silent c.729 p.S243 0.031 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 156 0 0 116 19 14.0741 CHST12 0 genome.wustl.edu 37 7 2472497 2472497 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 2472497 2472497 A G SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known missense c.223 p.S75G 0.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 73 0 0 44 13 22.807 OSBPL3 0 genome.wustl.edu 37 7 24881939 24881939 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 24881939 24881939 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.1360 p.A454T 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 509 0 0 356 72 16.8224 TTYH3 0 genome.wustl.edu 37 7 2698073 2698073 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 2698073 2698073 C T SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known silent c.1404 p.N468 1.000 NULL pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 21 0 0 18 3 14.2857 HOXA7 0 genome.wustl.edu 37 7 27195919 27195919 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 27195919 27195919 G A SNP HOXA7 ENST00000242159 human ensembl 74_37 -1 known silent c.246 p.C82 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 44 0 0 25 9 26.4706 TRIL 0 genome.wustl.edu 37 7 28996503 28996503 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 28996503 28996503 A G SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC ENSG00000176734 23 0 0 18 8 30.7692 CARD11 0 genome.wustl.edu 37 7 2953031 2953031 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 2953031 2953031 T C SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2909 p.Y970C 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 92 0 0 54 15 21.7391 CARD11 0 genome.wustl.edu 37 7 2979388 2979388 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 2979388 2979388 T C SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.859 p.I287V 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 154 0 0 97 34 25.9542 CARD11 0 genome.wustl.edu 37 7 2987388 2987388 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 2987388 2987388 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.41 p.T14M 0.982 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 287 0 0 235 54 18.6851 SCRN1 0 genome.wustl.edu 37 7 29980470 29980470 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 29980470 29980470 A G SNP SCRN1 ENST00000434476 human ensembl 74_37 -1 known silent c.627 p.S209 0.978 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 257 0 0 198 46 18.8525 SCRN1 0 genome.wustl.edu 37 7 29983717 29983717 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 29983717 29983717 A G SNP SCRN1 ENST00000434476 human ensembl 74_37 -1 known silent c.480 p.G160 0.965 pfam_Peptidase_C69 pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 130 0 0 98 14 12.5 FAM188B 0 genome.wustl.edu 37 7 30825490 30825490 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 30825490 30825490 T C SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.545 p.I182T 0.202 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 180 0 0 152 44 22.449 FAM188B 0 genome.wustl.edu 37 7 30931599 30931599 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 30931599 30931599 C T SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known silent c.2253 p.N751 0.692 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 409 0 0 245 39 13.7324 KBTBD2 0 genome.wustl.edu 37 7 32910428 32910428 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 32910428 32910428 A G SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.401 p.V134A 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 136 0 0 96 21 17.9487 KBTBD2 0 genome.wustl.edu 37 7 32914664 32914664 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 32914664 32914664 A G SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known silent c.276 p.G92 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 283 0 0 224 17 7.05394 BBS9 0 genome.wustl.edu 37 7 33303903 33303903 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 33303903 33303903 T C SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.619 p.Y207H 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 78 0 0 52 11 17.4603 ELMO1 0 genome.wustl.edu 37 7 37354480 37354480 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 37354480 37354480 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.166 p.S56G 0.963 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 108 0 0 82 11 11.828 AMPH 0 genome.wustl.edu 37 7 38505843 38505843 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 38505843 38505843 A G SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.596 p.V199A 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 64 0 0 43 12 21.8182 VPS41 0 genome.wustl.edu 37 7 38765894 38765894 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 38765894 38765894 A G SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known silent c.2517 p.S839 0.310 pirsf_VPS41,pfscan_Znf_RING pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 94 0 0 98 9 8.41121 POU6F2 0 genome.wustl.edu 37 7 39500291 39500291 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 39500291 39500291 G A SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.1548 p.A516 0.993 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 16 0 0 13 4 23.5294 POU6F2 0 genome.wustl.edu 37 7 39503921 39503921 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 39503921 39503921 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1712 p.A571V 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 106 0 0 62 10 13.8889 SDK1 0 genome.wustl.edu 37 7 4007008 4007008 + Silent SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 4007008 4007008 A T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.1488 p.T496 0.509 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 131 0 0 80 20 20 INHBA 0 genome.wustl.edu 37 7 41729279 41729279 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 41729279 41729279 T C SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.1250 p.N417S 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 141 0 0 104 12 10.3448 SDK1 0 genome.wustl.edu 37 7 4198165 4198165 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 4198165 4198165 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4711 p.V1571M 0.547 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 52 0 0 32 7 17.9487 PSMA2 0 genome.wustl.edu 37 7 42962944 42962944 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 42962944 42962944 A G SNP PSMA2 ENST00000223321 human ensembl 74_37 -1 known silent c.436 p.L146 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA2 HGNC ENSG00000106588 59 0 0 57 3 5 SDK1 0 genome.wustl.edu 37 7 4304866 4304866 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 4304866 4304866 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6492 p.A2164 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 15 0 0 10 3 23.0769 ENSG00000272655 0 genome.wustl.edu 37 7 44054286 44054286 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 44054286 44054286 C T SNP ENSG00000272655 ENST00000326391 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors POLR2J4 Clone_based_vega_gene ENSG00000272655 187 0 0 126 39 23.6364 CAMK2B 0 genome.wustl.edu 37 7 44260472 44260472 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 44260472 44260472 C A SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known silent c.1626 p.T542 0.915 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2B HGNC ENSG00000058404 9 0 0 4 3 42.8571 DDX56 0 genome.wustl.edu 37 7 44607803 44607803 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 44607803 44607803 G T SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.1403 p.P468H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 56 0 0 35 11 23.913 ZMIZ2 0 genome.wustl.edu 37 7 44802571 44802571 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 44802571 44802571 A T SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.1688 p.H563L 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 183 0 0 118 32 21.3333 MYO1G 0 genome.wustl.edu 37 7 45005794 45005794 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 45005794 45005794 C T SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.2035 p.G679R 0.982 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 40 0 0 48 7 12.7273 ADCY1 0 genome.wustl.edu 37 7 45717522 45717522 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 45717522 45717522 A G SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.1660 p.T554A 0.580 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 204 0 0 167 29 14.7959 IGFBP1 0 genome.wustl.edu 37 7 45930221 45930221 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 45930221 45930221 G A SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known missense c.424 p.A142T 0.176 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 217 0 0 142 42 22.8261 TNS3 0 genome.wustl.edu 37 7 47479116 47479116 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 47479116 47479116 A G SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.119 p.M40T 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 43 0 0 34 5 12.8205 FOXK1 0 genome.wustl.edu 37 7 4800720 4800720 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 4800720 4800720 G A SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known silent c.1722 p.A574 0.008 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 162 0 0 100 33 24.812 HUS1 0 genome.wustl.edu 37 7 48018405 48018405 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 48018405 48018405 T C SNP HUS1 ENST00000258774 human ensembl 74_37 -1 known missense c.61 p.N21D 0.886 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1 HGNC ENSG00000136273 144 0 0 104 27 20.6107 AP5Z1 0 genome.wustl.edu 37 7 4830774 4830774 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 4830774 4830774 A G SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.2182 p.T728A 0.083 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 15 0 0 9 3 25 ABCA13 0 genome.wustl.edu 37 7 48313721 48313721 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 48313721 48313721 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.4458 p.F1486 0.997 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 65 0 0 43 10 18.8679 RADIL 0 genome.wustl.edu 37 7 4856879 4856879 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 4856879 4856879 A G SNP RADIL ENST00000536091 human ensembl 74_37 -1 known missense c.1558 p.C520R 0.869 NULL pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 83 0 0 58 12 17.1429 IKZF1 0 genome.wustl.edu 37 7 50467961 50467961 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 50467961 50467961 A G SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1196 p.D399G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 17 0 0 8 7 46.6667 RBAK 0 genome.wustl.edu 37 7 5104755 5104755 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 5104755 5104755 A G SNP RBAK ENST00000353796 human ensembl 74_37 +1 known silent c.1668 p.E556 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 119 0 0 85 26 23.4234 COBL 0 genome.wustl.edu 37 7 51095667 51095667 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 51095667 51095667 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known silent c.3372 p.R1124 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 85 0 0 78 18 18.75 COBL 0 genome.wustl.edu 37 7 51096316 51096316 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 51096316 51096316 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2723 p.R908Q 0.001 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 88 0 0 73 24 24.7423 WIPI2 0 genome.wustl.edu 37 7 5269339 5269339 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 5269339 5269339 A G SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.1222 p.T408A 0.901 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 49 0 0 38 8 17.3913 POM121L12 0 genome.wustl.edu 37 7 53103642 53103642 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 53103642 53103642 T C SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.278 p.V93A 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 28 0 0 18 7 28 SLC29A4 0 genome.wustl.edu 37 7 5338952 5338952 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 5338952 5338952 T C SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.1103 p.L368P 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 43 0 0 40 5 11.1111 TNRC18 0 genome.wustl.edu 37 7 5401582 5401582 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 5401582 5401582 T C SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.4478 p.Q1493R 0.995 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 17 0 0 7 2 22.2222 EGFR 0 genome.wustl.edu 37 7 55220349 55220349 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 55220349 55220349 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.739 p.D247N 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 103 1 0.961538 69 11 13.75 CCT6A 0 genome.wustl.edu 37 7 56123451 56123451 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 56123451 56123451 T C SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known silent c.471 p.R157 0.026 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 162 0 0 131 25 16.0256 CCT6A 0 genome.wustl.edu 37 7 56128609 56128609 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 56128609 56128609 T C SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known silent c.1323 p.A441 0.992 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 142 0 0 110 17 13.3858 PHKG1 0 genome.wustl.edu 37 7 56148962 56148962 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 56148962 56148962 G A SNP PHKG1 ENST00000452681 human ensembl 74_37 -1 known missense c.1045 p.R349W 1.000 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma - no_errors PHKG1 HGNC ENSG00000164776 45 0 0 31 4 11.4286 FSCN1 0 genome.wustl.edu 37 7 5643159 5643159 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 5643159 5643159 G A SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known missense c.1022 p.R341H 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 70 0 0 50 9 15.2542 ZNF117 0 genome.wustl.edu 37 7 64439903 64439903 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 64439903 64439903 A G SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known missense c.46 p.Y16H 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 108 0 0 80 19 19.1919 CCT6P3 0 genome.wustl.edu 37 7 64531410 64531410 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 64531410 64531410 T C SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 66 0 0 47 5 9.61538 ZNF92 0 genome.wustl.edu 37 7 64863286 64863286 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 64863286 64863286 C T SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.259 p.P87S 0.051 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 90 0 0 58 18 23.6842 VKORC1L1 0 genome.wustl.edu 37 7 65419289 65419289 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 65419289 65419289 G A SNP VKORC1L1 ENST00000434382 human ensembl 74_37 +1 novel silent c.423 p.T141 0.000 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ENSG00000196715 64 0 0 51 10 16.3934 KCTD7 0 genome.wustl.edu 37 7 66104004 66104004 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 66104004 66104004 G A SNP KCTD7 ENST00000275532 human ensembl 74_37 +1 known missense c.655 p.G219R 0.979 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 146 0 0 93 19 16.9643 ZDHHC4 0 genome.wustl.edu 37 7 6624663 6624663 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 6624663 6624663 T C SNP ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known silent c.513 p.C171 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 67 0 0 60 12 16.6667 TMEM248 0 genome.wustl.edu 37 7 66413599 66413599 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 66413599 66413599 G A SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known missense c.514 p.A172T 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 44 0 0 25 12 32.4324 TYW1 0 genome.wustl.edu 37 7 66483036 66483036 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 66483036 66483036 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.767 p.C256Y 1.000 NULL pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 50 0 0 47 13 21.6667 TYW1 0 genome.wustl.edu 37 7 66660204 66660204 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 66660204 66660204 C A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known silent c.1857 p.A619 1.000 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 151 0 0 113 12 9.6 PMS2CL 0 genome.wustl.edu 37 7 6777346 6777346 + RNA SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 6777346 6777346 G C SNP PMS2CL ENST00000431453 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS2CL HGNC ENSG00000187953 98 0 0 57 24 29.6296 AUTS2 0 genome.wustl.edu 37 7 69064829 69064829 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 69064829 69064829 T C SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.190 p.S64P 0.997 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 39 0 0 14 4 22.2222 WBSCR17 0 genome.wustl.edu 37 7 70886037 70886037 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 70886037 70886037 A G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.908 p.Y303C 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 131 0 0 83 36 30.2521 TYW1B 0 genome.wustl.edu 37 7 72081820 72081820 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72081820 72081820 A G SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.500 p.V167A 1.000 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 135 0 0 111 33 22.9167 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658488 72658488 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72658488 72658488 T C SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 194 0 0 138 20 12.6582 NSUN5 0 genome.wustl.edu 37 7 72717396 72717396 + Nonstop_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72717396 72717396 C G SNP NSUN5 ENST00000310326 human ensembl 74_37 -1 novel nonstop c.1412 p.*471S 0.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 120 0 0 89 11 11 NSUN5 0 genome.wustl.edu 37 7 72717599 72717599 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72717599 72717599 T C SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known silent c.1284 p.P428 0.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 77 0 0 51 3 5.55556 NSUN5 0 genome.wustl.edu 37 7 72717604 72717604 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72717604 72717604 C T SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known missense c.1279 p.V427M 0.909 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 68 0 0 48 3 5.88235 NSUN5 0 genome.wustl.edu 37 7 72717856 72717856 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72717856 72717856 C T SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known missense c.1112 p.R371Q 0.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 22 0 0 27 6 18.1818 BAZ1B 0 genome.wustl.edu 37 7 72892413 72892413 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 72892413 72892413 T C SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.1378 p.T460A 0.656 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 217 0 0 145 27 15.6977 MLXIPL 0 genome.wustl.edu 37 7 73030508 73030508 + Splice_Site SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 73030508 73030508 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known splice_site c.294-1 e2-1 1.000 - - - no_errors MLXIPL HGNC ENSG00000009950 95 0 0 60 18 23.0769 ELN 0 genome.wustl.edu 37 7 73471776 73471776 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 73471776 73471776 G A SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.1422 p.V474 0.981 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 22 0 0 18 7 28 RFC2 0 genome.wustl.edu 37 7 73646517 73646517 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 73646517 73646517 C T SNP RFC2 ENST00000055077 human ensembl 74_37 -1 known silent c.984 p.A328 0.071 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_(+)RNA_virus_helicase_core_dom,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC2 HGNC ENSG00000049541 216 0 0 166 39 19.0244 GTF2IRD1 0 genome.wustl.edu 37 7 73944085 73944085 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 73944085 73944085 A G SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.1112 p.H371R 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 63 0 0 35 6 14.6341 COL28A1 0 genome.wustl.edu 37 7 7410437 7410437 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 7410437 7410437 C T SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.2985 p.S995 0.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 200 0 0 151 39 20.5263 COL28A1 0 genome.wustl.edu 37 7 7514247 7514247 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 7514247 7514247 T C SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.1287 p.S429 1.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 210 0 0 130 36 21.6867 COL28A1 0 genome.wustl.edu 37 7 7571101 7571101 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 7571101 7571101 T C SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.559 p.T187A 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 120 1 0.826446 71 15 17.4419 POMZP3 0 genome.wustl.edu 37 7 76254925 76254925 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 76254925 76254925 T C SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known silent c.141 p.V47 0.741 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 418 0 0 280 76 21.3483 POMZP3 0 genome.wustl.edu 37 7 76254929 76254929 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 76254929 76254929 G C SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known missense c.137 p.T46S 0.657 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 414 0 0 293 59 16.7614 CCDC146 0 genome.wustl.edu 37 7 76883847 76883847 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 76883847 76883847 A G SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known missense c.474 p.I158M 0.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 77 0 0 46 17 26.9841 GSAP 0 genome.wustl.edu 37 7 76940744 76940744 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 76940744 76940744 A G SNP GSAP ENST00000257626 human ensembl 74_37 -1 known silent c.2496 p.H832 1.000 NULL NULL - no_errors GSAP HGNC ENSG00000186088 131 0 0 111 21 15.9091 GSAP 0 genome.wustl.edu 37 7 76941475 76941475 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 76941475 76941475 A G SNP GSAP ENST00000257626 human ensembl 74_37 -1 known silent c.2316 p.S772 1.000 NULL NULL - no_errors GSAP HGNC ENSG00000186088 79 0 0 75 18 19.3548 GSAP 0 genome.wustl.edu 37 7 77035409 77035409 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 77035409 77035409 G A SNP GSAP ENST00000257626 human ensembl 74_37 -1 known silent c.123 p.N41 0.087 NULL NULL - no_errors GSAP HGNC ENSG00000186088 38 0 0 22 5 18.5185 RSBN1L 0 genome.wustl.edu 37 7 77402579 77402579 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 77402579 77402579 C T SNP RSBN1L ENST00000334955 human ensembl 74_37 +1 known nonsense c.1741 p.R581* 1.000 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 164 0 0 112 29 20.5674 MAGI2 0 genome.wustl.edu 37 7 78119138 78119138 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 78119138 78119138 A G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.985 p.S329P 1.000 pfam_WW_dom,superfamily_P-loop_NTPase,smart_WW_dom,pfscan_WW_dom pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 449 0 0 318 76 19.2893 HGF 0 genome.wustl.edu 37 7 81372722 81372722 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 81372722 81372722 C T SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.812 p.C271Y 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 123 0 0 78 26 25 HGF 0 genome.wustl.edu 37 7 81372723 81372723 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 81372723 81372723 A G SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.811 p.C271R 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 115 0 0 79 26 24.7619 CACNA2D1 0 genome.wustl.edu 37 7 81611899 81611899 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 81611899 81611899 T C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.1975 p.T659A 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 203 0 0 135 25 15.625 CACNA2D1 0 genome.wustl.edu 37 7 81643727 81643727 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 81643727 81643727 A G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.1212 p.C404 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 76 0 0 89 10 10.101 PCLO 0 genome.wustl.edu 37 7 82453563 82453563 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 82453563 82453563 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.14585 p.D4862G 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 52 0 0 38 11 22.449 PCLO 0 genome.wustl.edu 37 7 82584247 82584247 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 82584247 82584247 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6022 p.T2008A 0.196 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 308 1 0.323625 232 63 21.3559 SEMA3E 0 genome.wustl.edu 37 7 83037696 83037696 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 83037696 83037696 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.658 p.R220C 0.993 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 106 0 0 78 19 19.5876 SEMA3E 0 genome.wustl.edu 37 7 83095872 83095872 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 83095872 83095872 T A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.382 p.T128S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 137 0 0 84 25 22.9358 SEMA3D 0 genome.wustl.edu 37 7 84649547 84649547 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 84649547 84649547 A G SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known splice_site c.1503+2 e12+2 1.000 - - - no_errors SEMA3D HGNC ENSG00000153993 90 0 0 91 19 17.2727 GRM3 0 genome.wustl.edu 37 7 86469092 86469092 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 86469092 86469092 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.2262 p.Y754 0.998 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 176 0 0 122 35 22.293 DMTF1 0 genome.wustl.edu 37 7 86813838 86813838 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 86813838 86813838 C T SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.946 p.R316C 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 67 0 0 48 11 18.6441 DMTF1 0 genome.wustl.edu 37 7 86817425 86817425 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 86817425 86817425 A G SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.1219 p.K407E 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 141 0 0 101 22 17.8862 CROT 0 genome.wustl.edu 37 7 86990750 86990750 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 86990750 86990750 A G SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.285 p.I95M 0.824 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 208 0 0 169 9 5.05618 ZNF804B 0 genome.wustl.edu 37 7 88964603 88964603 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 88964603 88964603 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2307 p.I769M 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 108 0 0 89 19 17.5926 FZD1 0 genome.wustl.edu 37 7 90895582 90895582 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 90895582 90895582 C G SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1387 p.L463V 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 144 0 0 124 30 19.4805 FZD1 0 genome.wustl.edu 37 7 90895892 90895892 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 90895892 90895892 A C SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1697 p.E566A 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 69 0 0 67 10 12.987 AKAP9 0 genome.wustl.edu 37 7 91630524 91630524 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 91630524 91630524 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.1329 p.E443 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 161 0 0 127 31 19.6203 CYP51A1 0 genome.wustl.edu 37 7 91747922 91747922 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 91747922 91747922 T A SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known missense c.1094 p.D365V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 187 0 0 157 37 19.0722 CDK6 0 genome.wustl.edu 37 7 92247394 92247394 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 92247394 92247394 G A SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known silent c.826 p.L276 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK6 HGNC ENSG00000105810 62 0 0 37 9 19.5652 CDK6 0 genome.wustl.edu 37 7 92462455 92462455 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 92462455 92462455 C T SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known silent c.183 p.E61 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK6 HGNC ENSG00000105810 11 0 0 12 3 20 SAMD9L 0 genome.wustl.edu 37 7 92760647 92760647 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 92760647 92760647 T C SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.4638 p.I1546M 0.999 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 139 1 0.714286 130 27 17.1975 GET4 0 genome.wustl.edu 37 7 930607 930607 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 930607 930607 C T SNP GET4 ENST00000265857 human ensembl 74_37 +1 known missense c.509 p.A170V 0.027 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 191 0 0 114 35 23.4899 COL1A2 0 genome.wustl.edu 37 7 94056542 94056542 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 94056542 94056542 A G SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3202 p.T1068A 0.015 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 60 0 0 46 4 8 CASD1 0 genome.wustl.edu 37 7 94174901 94174901 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 94174901 94174901 A G SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known silent c.1521 p.V507 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 260 0 0 168 39 18.8406 PEG10 0 genome.wustl.edu 37 7 94293419 94293419 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 94293419 94293419 A G SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.551 p.Y184C 0.936 pfam_Retrotrans_gag_dom pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 296 1 0.3367 223 36 13.8996 PON2 0 genome.wustl.edu 37 7 95034793 95034793 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 95034793 95034793 C T SNP PON2 ENST00000536183 human ensembl 74_37 -1 known missense c.977 p.R326H 0.996 NULL pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 189 0 0 152 41 21.2435 DYNC1I1 0 genome.wustl.edu 37 7 95665019 95665019 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 95665019 95665019 T C SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.1370 p.V457A 0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 402 0 0 266 62 18.9024 SLC25A13 0 genome.wustl.edu 37 7 95750584 95750584 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 95750584 95750584 C A SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known silent c.1950 p.G650 0.978 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 135 0 0 85 25 22.7273 LMTK2 0 genome.wustl.edu 37 7 97821801 97821801 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 97821801 97821801 A G SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.2024 p.N675S 0.003 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 317 1 0.314465 226 47 17.2161 TRRAP 0 genome.wustl.edu 37 7 98506451 98506451 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 98506451 98506451 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.1216 p.I406V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 24 0 0 26 5 16.129 PDAP1 0 genome.wustl.edu 37 7 99002549 99002549 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99002549 99002549 G A SNP PDAP1 ENST00000350498 human ensembl 74_37 -1 known missense c.41 p.A14V 0.948 NULL pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC ENSG00000106244 61 0 0 51 9 15 ZNF789 0 genome.wustl.edu 37 7 99084556 99084556 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99084556 99084556 G A SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known silent c.723 p.R241 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF789 HGNC ENSG00000198556 165 0 0 130 36 21.6867 ZSCAN25 0 genome.wustl.edu 37 7 99227097 99227097 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99227097 99227097 C T SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known silent c.1089 p.L363 0.030 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 117 0 0 76 15 16.4835 CYP3A43 0 genome.wustl.edu 37 7 99441821 99441821 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99441821 99441821 A G SNP CYP3A43 ENST00000222382 human ensembl 74_37 +1 known missense c.274 p.T92A 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP3A43 HGNC ENSG00000021461 106 0 0 67 17 20.2381 TAF6 0 genome.wustl.edu 37 7 99707849 99707849 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99707849 99707849 C T SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.1132 p.A378T 1.000 pfam_DUF1546,superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 418 0 0 236 66 21.8543 STAG3 0 genome.wustl.edu 37 7 99779803 99779803 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99779803 99779803 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known silent c.207 p.P69 0.152 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 82 0 0 51 14 21.5385 VPS13B 0 genome.wustl.edu 37 8 100396469 100396469 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100396469 100396469 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.2858 p.A953V 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 294 0 0 214 40 15.748 VPS13B 0 genome.wustl.edu 37 8 100403908 100403908 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100403908 100403908 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.3058 p.P1020S 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 90 0 0 69 15 17.8571 VPS13B 0 genome.wustl.edu 37 8 100711773 100711773 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100711773 100711773 T A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.6142 p.S2048T 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 117 0 0 93 16 14.6789 VPS13B 0 genome.wustl.edu 37 8 100833587 100833587 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100833587 100833587 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.9135 p.K3045 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 204 1 0.487805 122 26 17.5676 VPS13B 0 genome.wustl.edu 37 8 100871606 100871606 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100871606 100871606 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.11017 p.D3673N 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 94 0 0 75 16 17.5824 VPS13B 0 genome.wustl.edu 37 8 100871692 100871692 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100871692 100871692 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.11103 p.V3701 0.186 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 123 0 0 84 26 23.6364 RGS22 0 genome.wustl.edu 37 8 100974620 100974620 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 100974620 100974620 A G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known splice_site c.3795+2 e27+2 0.003 - - - no_errors RGS22 HGNC ENSG00000132554 77 0 0 58 18 23.6842 UBR5 0 genome.wustl.edu 37 8 103297965 103297965 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 103297965 103297965 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5260 p.R1754W 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 116 0 0 77 21 21.4286 UBR5 0 genome.wustl.edu 37 8 103312362 103312362 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 103312362 103312362 A G SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.2972 p.M991T 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 177 0 0 177 14 7.32984 UBR5 0 genome.wustl.edu 37 8 103338886 103338886 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 103338886 103338886 A G SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.1487 p.V496A 1.000 superfamily_RCC1/BLIP-II pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 87 0 0 60 9 13.0435 FZD6 0 genome.wustl.edu 37 8 104330885 104330885 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 104330885 104330885 T C SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.245 p.V82A 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 236 0 0 156 40 20.4082 RP1L1 0 genome.wustl.edu 37 8 10469723 10469723 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 10469723 10469723 A G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1885 p.S629P 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 104 0 0 70 13 15.6627 RIMS2 0 genome.wustl.edu 37 8 105263882 105263882 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 105263882 105263882 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3884 p.V1295A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 241 0 0 180 42 18.9189 LRP12 0 genome.wustl.edu 37 8 105510164 105510164 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 105510164 105510164 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.559 p.P187S 0.784 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 282 0 0 211 43 16.9291 PINX1 0 genome.wustl.edu 37 8 10677706 10677706 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 10677706 10677706 G A SNP PINX1 ENST00000314787 human ensembl 74_37 -1 known silent c.468 p.P156 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors PINX1 HGNC ENSG00000254093 45 0 0 36 7 16.2791 NUDCD1 0 genome.wustl.edu 37 8 110257628 110257628 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 110257628 110257628 A G SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known missense c.1382 p.V461A 0.998 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 143 0 0 94 17 15.3153 PKHD1L1 0 genome.wustl.edu 37 8 110425663 110425663 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 110425663 110425663 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.2249 p.Y750C 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 29 0 0 24 5 17.2414 PKHD1L1 0 genome.wustl.edu 37 8 110453524 110453524 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 110453524 110453524 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.4120 p.T1374A 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 44 0 0 34 9 20.9302 PKHD1L1 0 genome.wustl.edu 37 8 110474095 110474095 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 110474095 110474095 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.7341 p.V2447 0.839 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 26 0 0 16 7 30.4348 KCNV1 0 genome.wustl.edu 37 8 110980664 110980664 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 110980664 110980664 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1156 p.A386T 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 161 0 0 149 12 7.45342 CSMD3 0 genome.wustl.edu 37 8 113256718 113256718 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 113256718 113256718 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10307 p.Y3436C 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 164 0 0 131 32 19.6319 CSMD3 0 genome.wustl.edu 37 8 113702138 113702138 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 113702138 113702138 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2114 p.Q705R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 254 0 0 175 45 20.4545 BLK 0 genome.wustl.edu 37 8 11405571 11405571 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 11405571 11405571 A G SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.206 p.Y69C 0.564 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 140 0 0 102 13 11.3043 BLK 0 genome.wustl.edu 37 8 11420560 11420560 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 11420560 11420560 T C SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.1253 p.V418A 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 78 0 0 58 14 19.4444 TRPS1 0 genome.wustl.edu 37 8 116599390 116599390 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 116599390 116599390 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2538 p.V846 0.002 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 172 0 0 146 36 19.7802 TRPS1 0 genome.wustl.edu 37 8 116616290 116616290 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 116616290 116616290 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1906 p.T636A 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 104 0 0 72 11 13.253 TRPS1 0 genome.wustl.edu 37 8 116617019 116617019 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 116617019 116617019 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1177 p.N393D 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 158 0 0 90 24 21.0526 EXT1 0 genome.wustl.edu 37 8 118825188 118825188 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 118825188 118825188 G A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1645 p.R549C 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 39 0 0 23 5 17.8571 EXT1 0 genome.wustl.edu 37 8 118831934 118831934 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 118831934 118831934 T A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1517 p.K506M 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 155 0 0 94 16 14.5455 USP17L2 0 genome.wustl.edu 37 8 11995092 11995092 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 11995092 11995092 G A SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.1178 p.A393V 0.006 pfam_HABP4_PAIRBP1-bd pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 164 0 0 92 21 18.5841 TAF2 0 genome.wustl.edu 37 8 120809270 120809270 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 120809270 120809270 C T SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.1051 p.A351T 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 116 0 0 95 19 16.6667 DEPTOR 0 genome.wustl.edu 37 8 120977536 120977536 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 120977536 120977536 A G SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.490 p.T164A 0.953 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 162 0 0 108 23 17.5573 DEPTOR 0 genome.wustl.edu 37 8 121061867 121061867 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 121061867 121061867 A G SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.1154 p.Y385C 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 180 0 0 140 30 17.6471 COL14A1 0 genome.wustl.edu 37 8 121327827 121327827 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 121327827 121327827 T C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known splice_site c.4605+2 e38+2 1.000 - - - no_errors COL14A1 HGNC ENSG00000187955 68 0 0 44 12 21.4286 ZHX2 0 genome.wustl.edu 37 8 123964290 123964290 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 123964290 123964290 G T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.540 p.S180 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 133 0 0 94 31 24.8 TBC1D31 0 genome.wustl.edu 37 8 124140543 124140543 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124140543 124140543 A G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.1907 p.N636S 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 215 0 0 129 34 20.8589 TBC1D31 0 genome.wustl.edu 37 8 124164129 124164129 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124164129 124164129 A G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.3151 p.T1051A 0.027 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 117 0 0 66 10 13.1579 ZHX1 0 genome.wustl.edu 37 8 124267009 124267009 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124267009 124267009 T C SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.1178 p.Q393R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 222 0 0 185 40 17.7778 ATAD2 0 genome.wustl.edu 37 8 124348743 124348743 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124348743 124348743 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.3081 p.Q1027 0.997 pfam_Bromodomain,superfamily_Bromodomain,superfamily_P-loop_NTPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 241 1 0.413223 185 39 17.4107 ATAD2 0 genome.wustl.edu 37 8 124382135 124382135 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124382135 124382135 C T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.857 p.G286E 0.969 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 107 0 0 74 4 5.12821 ATAD2 0 genome.wustl.edu 37 8 124382143 124382143 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124382143 124382143 T A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.849 p.E283D 0.782 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 106 0 0 69 4 5.47945 ATAD2 0 genome.wustl.edu 37 8 124382167 124382167 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124382167 124382167 A T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.825 p.D275E 0.953 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 97 0 0 64 15 18.9873 ATAD2 0 genome.wustl.edu 37 8 124382194 124382194 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124382194 124382194 A G SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.798 p.D266 0.927 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 92 0 0 73 12 14.1176 ATAD2 0 genome.wustl.edu 37 8 124382203 124382203 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124382203 124382203 T A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.789 p.E263D 0.052 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 90 0 0 77 13 14.4444 KLHL38 0 genome.wustl.edu 37 8 124658210 124658210 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124658210 124658210 C T SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.1515 p.A505 0.470 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 119 0 0 60 18 23.0769 ANXA13 0 genome.wustl.edu 37 8 124705988 124705988 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 124705988 124705988 T C SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known missense c.626 p.K209R 0.997 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 383 0 0 237 69 22.549 FER1L6 0 genome.wustl.edu 37 8 125015417 125015417 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 125015417 125015417 A G SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known silent c.1530 p.G510 0.986 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 261 0 0 194 50 20.4918 RNF139 0 genome.wustl.edu 37 8 125498142 125498142 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 125498142 125498142 A G SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known silent c.252 p.S84 0.753 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 185 0 0 160 32 16.6667 TATDN1 0 genome.wustl.edu 37 8 125528239 125528239 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 125528239 125528239 T C SNP TATDN1 ENST00000276692 human ensembl 74_37 -1 known missense c.235 p.T79A 1.000 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC ENSG00000147687 108 0 0 77 15 16.3043 SQLE 0 genome.wustl.edu 37 8 126011788 126011788 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 126011788 126011788 A G SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.143 p.H48R 0.994 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 58 0 0 44 10 18.5185 KIAA0196 0 genome.wustl.edu 37 8 126087304 126087304 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 126087304 126087304 T C SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.914 p.E305G 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 248 1 0.401606 176 56 24.1379 DLC1 0 genome.wustl.edu 37 8 12957275 12957275 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 12957275 12957275 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2571 p.S857 0.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 73 0 0 42 14 25 ADCY8 0 genome.wustl.edu 37 8 131812714 131812714 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 131812714 131812714 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3018 p.E1006 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 281 0 0 173 46 21.0046 EFR3A 0 genome.wustl.edu 37 8 132997309 132997309 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 132997309 132997309 T C SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known splice_site c.1869+2 e16+2 1.000 - - - no_errors EFR3A HGNC ENSG00000132294 236 0 0 192 42 17.9487 TG 0 genome.wustl.edu 37 8 133879302 133879302 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 133879302 133879302 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.57 p.A19 1.000 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 16 0 0 13 3 18.75 TG 0 genome.wustl.edu 37 8 133883660 133883660 + Silent SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 133883660 133883660 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.342 p.T114 0.002 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 95 0 0 83 18 17.8218 TG 0 genome.wustl.edu 37 8 133899319 133899319 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 133899319 133899319 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1702 p.L568I 0.998 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 182 0 0 126 30 19.2308 TG 0 genome.wustl.edu 37 8 133900283 133900283 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 133900283 133900283 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.2231 p.A744V 0.003 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 35 0 0 25 8 24.2424 WISP1 0 genome.wustl.edu 37 8 134225274 134225274 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 134225274 134225274 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.237 p.C79 0.992 pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 80 0 0 58 14 19.4444 FAM135B 0 genome.wustl.edu 37 8 139164318 139164318 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 139164318 139164318 A G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.2400 p.D800 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 122 0 0 108 27 20 COL22A1 0 genome.wustl.edu 37 8 139890062 139890062 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 139890062 139890062 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.589 p.V197I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 36 0 0 41 6 12.766 AGO2 0 genome.wustl.edu 37 8 141542189 141542189 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 141542189 141542189 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.2534 p.A845V 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 192 0 0 138 26 15.8537 AGO2 0 genome.wustl.edu 37 8 141566004 141566004 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 141566004 141566004 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.1260 p.Y420 0.961 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 55 0 0 37 5 11.9048 DENND3 0 genome.wustl.edu 37 8 142200505 142200505 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 142200505 142200505 G A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.3128 p.R1043H 0.108 superfamily_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 30 0 0 38 3 7.31707 SLC45A4 0 genome.wustl.edu 37 8 142228816 142228816 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 142228816 142228816 T C SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.923 p.D308G 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 146 0 0 115 31 21.2329 GPR20 0 genome.wustl.edu 37 8 142367700 142367700 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 142367700 142367700 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known silent c.324 p.T108 0.887 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 59 0 0 42 15 26.3158 LYNX1 0 genome.wustl.edu 37 8 143856711 143856711 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 143856711 143856711 G A SNP LYNX1 ENST00000345173 human ensembl 74_37 -1 known silent c.225 p.G75 1.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYNX1 HGNC ENSG00000180155 41 0 0 28 4 12.5 LY6D 0 genome.wustl.edu 37 8 143867011 143867011 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 143867011 143867011 T C SNP LY6D ENST00000301263 human ensembl 74_37 -1 known missense c.145 p.N49D 0.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6D HGNC ENSG00000167656 102 0 0 87 9 9.375 CYP11B2 0 genome.wustl.edu 37 8 143994741 143994741 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 143994741 143994741 C T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.1081 p.E361K 0.961 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 83 0 0 74 20 21.2766 PUF60 0 genome.wustl.edu 37 8 144900634 144900634 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 144900634 144900634 A G SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.419 p.L140P 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 15 0 0 9 5 35.7143 EPPK1 0 genome.wustl.edu 37 8 144945718 144945718 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 144945718 144945718 T C SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1704 p.T568 0.003 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 18 0 0 22 3 12 PLEC 0 genome.wustl.edu 37 8 144994121 144994121 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 144994121 144994121 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10279 p.T3427A 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 149 0 0 106 24 18.4615 PLEC 0 genome.wustl.edu 37 8 145005812 145005812 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145005812 145005812 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.2605 p.R869W 0.999 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 11 0 0 11 4 26.6667 GPAA1 0 genome.wustl.edu 37 8 145138642 145138642 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145138642 145138642 G C SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.392 p.G131A 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 41 0 0 29 2 6.45161 GPAA1 0 genome.wustl.edu 37 8 145139749 145139749 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145139749 145139749 G A SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.1135 p.G379S 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 200 0 0 145 32 18.0791 FBXL6 0 genome.wustl.edu 37 8 145579255 145579255 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145579255 145579255 T C SNP FBXL6 ENST00000331890 human ensembl 74_37 -1 known missense c.1556 p.Y519C 1.000 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 84 0 0 64 11 14.6667 CPSF1 0 genome.wustl.edu 37 8 145619366 145619366 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145619366 145619366 C T SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.3821 p.R1274H 0.998 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 33 0 0 24 8 25 SLC39A4 0 genome.wustl.edu 37 8 145640188 145640188 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145640188 145640188 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.897 p.A299 1.000 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 86 0 0 81 18 18.1818 TONSL 0 genome.wustl.edu 37 8 145655794 145655794 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145655794 145655794 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known silent c.3936 p.G1312 0.252 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 13 0 0 16 5 23.8095 MFSD3 0 genome.wustl.edu 37 8 145735779 145735779 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145735779 145735779 T C SNP MFSD3 ENST00000301327 human ensembl 74_37 +1 known missense c.719 p.L240P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD3 HGNC ENSG00000167700 106 0 0 87 22 20.1835 ARHGAP39 0 genome.wustl.edu 37 8 145773654 145773654 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145773654 145773654 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.816 p.P272 0.595 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 17 0 0 13 3 18.75 ARHGAP39 0 genome.wustl.edu 37 8 145780968 145780968 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145780968 145780968 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.572 p.A191V 0.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 154 0 0 108 30 21.7391 ZNF34 0 genome.wustl.edu 37 8 145999512 145999512 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145999512 145999512 A G SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known silent c.822 p.T274 0.786 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 109 1 0.909091 79 22 21.7822 ZNF34 0 genome.wustl.edu 37 8 145999668 145999668 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145999668 145999668 T C SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known silent c.666 p.T222 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 72 0 0 48 8 14.2857 ZNF7 0 genome.wustl.edu 37 8 146054477 146054477 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 146054477 146054477 T C SNP ZNF7 ENST00000325241 human ensembl 74_37 +1 known splice_site c.3+2 e1+2 1.000 - - - no_errors ZNF7 HGNC ENSG00000147789 31 0 0 28 5 15.1515 COMMD5 0 genome.wustl.edu 37 8 146076420 146076420 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 146076420 146076420 T G SNP COMMD5 ENST00000450361 human ensembl 74_37 -1 known missense c.304 p.T102P 0.025 pfam_HCaRG pfam_HCaRG - no_errors COMMD5 HGNC ENSG00000170619 22 0 0 21 2 8.69565 ZNF250 0 genome.wustl.edu 37 8 146108158 146108158 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 146108158 146108158 T C SNP ZNF250 ENST00000292579 human ensembl 74_37 -1 known missense c.425 p.Q142R 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF250 HGNC ENSG00000196150 411 0 0 285 62 17.8674 DLGAP2 0 genome.wustl.edu 37 8 1626408 1626408 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 1626408 1626408 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2077 p.V693I 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 79 0 0 60 14 18.9189 SLC7A2 0 genome.wustl.edu 37 8 17407891 17407891 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 17407891 17407891 T C SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known silent c.900 p.G300 0.778 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 94 0 0 63 18 22.2222 ARHGEF10 0 genome.wustl.edu 37 8 1893759 1893759 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 1893759 1893759 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.3410 p.T1137M 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 72 0 0 47 14 22.9508 XPO7 0 genome.wustl.edu 37 8 21856749 21856749 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 21856749 21856749 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.2603 p.D868G 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 608 0 0 455 98 17.7215 XPO7 0 genome.wustl.edu 37 8 21857143 21857143 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 21857143 21857143 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.2767 p.M923V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 150 0 0 101 25 19.8413 FAM160B2 0 genome.wustl.edu 37 8 21956814 21956814 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 21956814 21956814 C T SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.1094 p.A365V 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 48 0 0 33 14 29.7872 TNFRSF10B 0 genome.wustl.edu 37 8 22900649 22900649 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 22900649 22900649 A G SNP TNFRSF10B ENST00000276431 human ensembl 74_37 -1 known splice_site c.250+2 e2+2 0.220 - - - no_errors TNFRSF10B HGNC ENSG00000120889 57 0 0 31 11 26.1905 TNFRSF10C 0 genome.wustl.edu 37 8 22960668 22960668 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 22960668 22960668 G A SNP TNFRSF10C ENST00000356864 human ensembl 74_37 +1 known missense c.34 p.V12I 0.071 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10C HGNC ENSG00000173535 11 0 0 9 4 30.7692 KCTD9 0 genome.wustl.edu 37 8 25287452 25287452 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 25287452 25287452 T C SNP KCTD9 ENST00000221200 human ensembl 74_37 -1 known missense c.1091 p.N364S 1.000 pfam_5peptide_repeat pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 227 0 0 165 39 19.1176 CDCA2 0 genome.wustl.edu 37 8 25364485 25364485 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 25364485 25364485 A G SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.2303 p.D768G 0.000 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 98 0 0 79 17 17.7083 PTK2B 0 genome.wustl.edu 37 8 27297910 27297910 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 27297910 27297910 A G SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.1991 p.Y664C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 105 0 0 67 15 18.2927 KIF13B 0 genome.wustl.edu 37 8 28980934 28980934 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 28980934 28980934 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.3428 p.A1143V 0.998 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 174 0 0 154 47 23.3831 CSMD1 0 genome.wustl.edu 37 8 3019738 3019738 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 3019738 3019738 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5790 p.D1930E 0.722 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 29 0 0 24 2 7.69231 RBPMS 0 genome.wustl.edu 37 8 30407035 30407035 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 30407035 30407035 G A SNP RBPMS ENST00000287771 human ensembl 74_37 +1 known missense c.547 p.V183M 0.008 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 181 0 0 97 22 18.4874 GSR 0 genome.wustl.edu 37 8 30560691 30560691 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 30560691 30560691 T C SNP GSR ENST00000221130 human ensembl 74_37 -1 known missense c.559 p.S187G 0.879 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 233 1 0.42735 158 40 20.202 TEX15 0 genome.wustl.edu 37 8 30705316 30705316 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 30705316 30705316 T C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.1218 p.E406 0.074 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 285 0 0 224 46 17.037 PURG 0 genome.wustl.edu 37 8 30889698 30889698 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 30889698 30889698 T C SNP PURG ENST00000475541 human ensembl 74_37 -1 known missense c.601 p.T201A 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 174 1 0.571429 125 23 15.5405 WRN 0 genome.wustl.edu 37 8 30977830 30977830 + Silent SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 30977830 30977830 T G SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.2520 p.G840 0.896 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 378 0 0 261 40 13.289 CSMD1 0 genome.wustl.edu 37 8 3263618 3263618 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 3263618 3263618 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2200 p.S734P 0.965 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 61 0 0 53 4 7.01754 TTI2 0 genome.wustl.edu 37 8 33369912 33369912 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 33369912 33369912 G A SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known missense c.220 p.R74W 0.000 NULL pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 170 1 0.584795 138 22 13.75 KCNU1 0 genome.wustl.edu 37 8 36766982 36766982 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 36766982 36766982 A C SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2260 p.I754L 0.906 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 455 0 0 301 57 15.9218 GPR124 0 genome.wustl.edu 37 8 37698297 37698297 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 37698297 37698297 G T SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.2677 p.G893W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 38 0 0 33 5 13.1579 GPR124 0 genome.wustl.edu 37 8 37699017 37699017 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 37699017 37699017 A G SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.3161 p.Y1054C 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 16 0 0 17 3 15 DDHD2 0 genome.wustl.edu 37 8 38092104 38092104 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 38092104 38092104 T C SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known splice_site c.411+2 e2+2 1.000 - - - no_errors DDHD2 HGNC ENSG00000085788 188 1 0.529101 169 37 17.9612 LETM2 0 genome.wustl.edu 37 8 38250157 38250157 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 38250157 38250157 A G SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.145 p.K49E 0.029 NULL pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 318 0 0 265 54 16.9279 ADAM32 0 genome.wustl.edu 37 8 39044429 39044429 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 39044429 39044429 A G SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.917 p.Y306C 0.995 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 113 0 0 106 19 15.2 ADAM18 0 genome.wustl.edu 37 8 39525631 39525631 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 39525631 39525631 C T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.1441 p.R481C 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 355 0 0 324 77 19.202 AGPAT6 0 genome.wustl.edu 37 8 41467407 41467407 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 41467407 41467407 A G SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.469 p.S157G 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 245 0 0 190 44 18.8034 FNTA 0 genome.wustl.edu 37 8 42939922 42939922 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 42939922 42939922 T C SNP FNTA ENST00000302279 human ensembl 74_37 +1 known silent c.915 p.S305 0.996 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 138 0 0 143 16 10.0629 HGSNAT 0 genome.wustl.edu 37 8 43002198 43002198 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 43002198 43002198 T C SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.310 p.C104R 0.913 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 51 0 0 43 12 21.8182 PRKDC 0 genome.wustl.edu 37 8 48701752 48701752 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 48701752 48701752 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.10715 p.N3572S 0.977 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 84 0 0 68 19 21.8391 PRKDC 0 genome.wustl.edu 37 8 48732055 48732055 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 48732055 48732055 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.9350 p.D3117G 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 126 1 0.787402 105 30 22.2222 PRKDC 0 genome.wustl.edu 37 8 48774943 48774943 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 48774943 48774943 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.5907 p.K1969 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 82 0 0 55 21 27.6316 PRKDC 0 genome.wustl.edu 37 8 48817531 48817531 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 48817531 48817531 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.2940 p.T980 0.990 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 149 0 0 113 27 19.2857 PXDNL 0 genome.wustl.edu 37 8 52322005 52322005 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 52322005 52322005 A G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2179 p.Y727H 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 37 0 0 24 5 17.2414 PXDNL 0 genome.wustl.edu 37 8 52322094 52322094 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 52322094 52322094 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2090 p.P697L 0.949 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 42 0 0 26 7 21.2121 NPBWR1 0 genome.wustl.edu 37 8 53853400 53853400 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 53853400 53853400 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known silent c.933 p.D311 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 36 0 0 27 7 20.5882 SOX17 0 genome.wustl.edu 37 8 55372532 55372532 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 55372532 55372532 T C SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.1222 p.Y408H 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 69 0 0 54 17 23.9437 RP1 0 genome.wustl.edu 37 8 55534685 55534685 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 55534685 55534685 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.624 p.S208 0.996 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 78 0 0 63 10 13.6986 XKR4 0 genome.wustl.edu 37 8 56435964 56435964 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 56435964 56435964 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.1131 p.C377 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 195 0 0 146 42 22.3404 SNORD54 0 genome.wustl.edu 37 8 56986428 56986428 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 56986428 56986428 T C SNP SNORD54 ENST00000459159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD54 HGNC ENSG00000238650 485 1 0.205761 312 69 18.1102 PENK 0 genome.wustl.edu 37 8 57353979 57353979 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 57353979 57353979 C T SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.656 p.R219H 1.000 prints_Proenkphlin_A pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 302 0 0 207 50 19.4553 SDCBP 0 genome.wustl.edu 37 8 59490615 59490615 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 59490615 59490615 G A SNP SDCBP ENST00000260130 human ensembl 74_37 +1 known silent c.426 p.Q142 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 182 0 0 115 35 23.3333 NSMAF 0 genome.wustl.edu 37 8 59502099 59502099 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 59502099 59502099 T C SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.2216 p.D739G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 127 0 0 111 28 20.1439 CHD7 0 genome.wustl.edu 37 8 61654075 61654075 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 61654075 61654075 T C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.84 p.G28 0.638 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 43 0 0 28 5 15.1515 CHD7 0 genome.wustl.edu 37 8 61742985 61742985 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 61742985 61742985 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.3627 p.E1209D 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 183 0 0 127 35 21.6049 CHD7 0 genome.wustl.edu 37 8 61743072 61743072 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 61743072 61743072 A G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.3714 p.V1238 0.870 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 152 0 0 121 30 19.8675 CHD7 0 genome.wustl.edu 37 8 61765392 61765392 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 61765392 61765392 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.6108 p.P2036 0.001 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 209 1 0.47619 118 36 23.3766 ASPH 0 genome.wustl.edu 37 8 62588830 62588830 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 62588830 62588830 A G SNP ASPH ENST00000379449 human ensembl 74_37 -1 putative missense c.416 p.V139A 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors ASPH HGNC ENSG00000198363 33 0 0 25 3 10.7143 MCPH1 0 genome.wustl.edu 37 8 6302320 6302320 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 6302320 6302320 A G SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known silent c.1077 p.V359 0.000 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 64 0 0 51 10 16.3934 ANGPT2 0 genome.wustl.edu 37 8 6360765 6360765 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 6360765 6360765 A G SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.1348 p.C450R 0.999 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 95 0 0 68 15 18.0723 ADHFE1 0 genome.wustl.edu 37 8 67357523 67357523 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 67357523 67357523 A G SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.424 p.T142A 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 198 1 0.502513 129 28 17.8344 VCPIP1 0 genome.wustl.edu 37 8 67576862 67576862 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 67576862 67576862 G A SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known nonsense c.2332 p.R778* 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 322 3 0.923077 244 56 18.6667 VCPIP1 0 genome.wustl.edu 37 8 67578033 67578033 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 67578033 67578033 C T SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known silent c.1161 p.K387 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 404 0 0 283 64 18.4438 CSPP1 0 genome.wustl.edu 37 8 68007638 68007638 + Silent SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 68007638 68007638 T A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known silent c.621 p.T207 0.007 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 184 1 0.540541 90 34 27.4194 ARFGEF1 0 genome.wustl.edu 37 8 68213490 68213490 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 68213490 68213490 C T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.281 p.R94H 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 173 0 0 141 35 19.8864 SULF1 0 genome.wustl.edu 37 8 70488282 70488282 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 70488282 70488282 A G SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.250 p.T84A 0.997 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 67 0 0 39 11 22 SLCO5A1 0 genome.wustl.edu 37 8 70744455 70744455 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 70744455 70744455 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.454 p.V152I 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 73 0 0 48 10 17.2414 NCOA2 0 genome.wustl.edu 37 8 71071751 71071751 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 71071751 71071751 A G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known silent c.1113 p.H371 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 389 0 0 291 77 20.9239 LOC100132891 0 genome.wustl.edu 37 8 72755854 72755854 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 72755854 72755854 C T SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.218 p.P73L 0.000 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 39 0 0 19 8 29.6296 MSC 0 genome.wustl.edu 37 8 72756075 72756075 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 72756075 72756075 G A SNP MSC ENST00000325509 human ensembl 74_37 -1 known silent c.339 p.N113 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 37 0 0 27 4 12.9032 SBSPON 0 genome.wustl.edu 37 8 73979655 73979655 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 73979655 73979655 C T SNP SBSPON ENST00000297354 human ensembl 74_37 -1 known missense c.716 p.R239Q 0.979 NULL superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt - no_errors SBSPON HGNC ENSG00000164764 191 0 0 129 27 17.3077 ZFHX4 0 genome.wustl.edu 37 8 77764330 77764330 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 77764330 77764330 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5173 p.T1725A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 113 0 0 87 14 13.8614 ZFHX4 0 genome.wustl.edu 37 8 77767833 77767833 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 77767833 77767833 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.8676 p.P2892 0.659 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 86 0 0 48 11 18.6441 PEX2 0 genome.wustl.edu 37 8 77895910 77895910 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 77895910 77895910 G A SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known missense c.505 p.R169C 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 232 1 0.429185 137 32 18.9349 TPD52 0 genome.wustl.edu 37 8 80963804 80963804 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 80963804 80963804 G A SNP TPD52 ENST00000537855 human ensembl 74_37 -1 known missense c.464 p.S155L 1.000 pfam_TPD52 pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold - no_errors TPD52 HGNC ENSG00000076554 187 0 0 115 29 20.1389 SGK223 0 genome.wustl.edu 37 8 8235521 8235521 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 8235521 8235521 A G SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.398 p.L133P 0.980 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 158 1 0.628931 102 31 23.3083 CLDN23 0 genome.wustl.edu 37 8 8560303 8560303 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 8560303 8560303 T G SNP CLDN23 ENST00000519106 human ensembl 74_37 +1 known missense c.395 p.V132G 0.098 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN23 HGNC ENSG00000253958 21 0 0 15 7 31.8182 RALYL 0 genome.wustl.edu 37 8 85774581 85774581 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 85774581 85774581 C T SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.464 p.P155L 0.940 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 50 0 0 19 8 29.6296 LRRCC1 0 genome.wustl.edu 37 8 86035830 86035830 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 86035830 86035830 C T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known silent c.1113 p.N371 0.001 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 133 0 0 89 28 23.9316 PPP1R3B 0 genome.wustl.edu 37 8 8998516 8998516 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 8998516 8998516 A G SNP PPP1R3B ENST00000310455 human ensembl 74_37 -1 known missense c.646 p.C216R 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 162 0 0 148 35 19.1257 NBN 0 genome.wustl.edu 37 8 90982768 90982768 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 90982768 90982768 G A SNP NBN ENST00000265433 human ensembl 74_37 -1 known silent c.720 p.S240 0.949 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 148 0 0 98 25 20.3252 NBN 0 genome.wustl.edu 37 8 90990516 90990516 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 90990516 90990516 T C SNP NBN ENST00000265433 human ensembl 74_37 -1 known silent c.516 p.V172 0.985 superfamily_BRCT_dom,pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 152 0 0 106 23 17.8295 SLC26A7 0 genome.wustl.edu 37 8 92406197 92406197 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 92406197 92406197 A G SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1865 p.N622S 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 217 0 0 148 26 14.9425 RUNX1T1 0 genome.wustl.edu 37 8 92972632 92972632 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 92972632 92972632 A G SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known silent c.1686 p.C562 1.000 pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 75 0 0 49 14 22.2222 FAM92A1 0 genome.wustl.edu 37 8 94713550 94713550 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 94713550 94713550 C T SNP FAM92A1 ENST00000518322 human ensembl 74_37 +1 known missense c.125 p.A42V 1.000 pfam_FAM92 pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 42 0 0 31 8 20.5128 TMEM67 0 genome.wustl.edu 37 8 94793924 94793924 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 94793924 94793924 A G SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.1017 p.I339M 0.996 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 159 1 0.625 98 20 16.9492 CDH17 0 genome.wustl.edu 37 8 95143161 95143161 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95143161 95143161 A G SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known silent c.2227 p.L743 0.003 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 143 0 0 104 21 16.8 CDH17 0 genome.wustl.edu 37 8 95161011 95161011 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95161011 95161011 C T SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.1888 p.G630R 0.040 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 39 0 0 34 9 20.9302 KIAA1429 0 genome.wustl.edu 37 8 95503952 95503952 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95503952 95503952 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.4994 p.V1665A 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 232 1 0.429185 164 33 16.7513 KIAA1429 0 genome.wustl.edu 37 8 95504890 95504890 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95504890 95504890 T C SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.4798 p.I1600V 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 240 0 0 191 53 21.7213 KIAA1429 0 genome.wustl.edu 37 8 95523695 95523695 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95523695 95523695 C T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.3108 p.A1036 0.998 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 102 0 0 87 17 16.3462 ESRP1 0 genome.wustl.edu 37 8 95690551 95690551 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95690551 95690551 A G SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1772 p.Y591C 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 97 0 0 66 15 18.5185 DPY19L4 0 genome.wustl.edu 37 8 95746974 95746974 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95746974 95746974 A G SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.244 p.N82D 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 131 0 0 90 11 10.8911 TP53INP1 0 genome.wustl.edu 37 8 95942825 95942825 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 95942825 95942825 T C SNP TP53INP1 ENST00000342697 human ensembl 74_37 -1 known missense c.605 p.Q202R 1.000 NULL NULL - no_errors TP53INP1 HGNC ENSG00000164938 343 0 0 212 50 19.084 TNKS 0 genome.wustl.edu 37 8 9609199 9609199 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 9609199 9609199 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.2913 p.V971 0.872 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 320 0 0 230 55 19.2982 TNKS 0 genome.wustl.edu 37 8 9623891 9623891 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 9623891 9623891 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.3696 p.T1232 0.280 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 192 0 0 150 21 12.2807 PTDSS1 0 genome.wustl.edu 37 8 97307438 97307438 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 97307438 97307438 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known missense c.554 p.S185N 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 133 0 0 99 20 16.8067 CPQ 0 genome.wustl.edu 37 8 98041636 98041636 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 98041636 98041636 C T SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.967 p.R323C 0.998 pfam_Peptidase_M28,pfam_Peptidase_M20 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 29 0 0 21 6 22.2222 TSPYL5 0 genome.wustl.edu 37 8 98289418 98289418 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 98289418 98289418 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.655 p.A219T 0.998 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 118 0 0 83 11 11.7021 TSPYL5 0 genome.wustl.edu 37 8 98289628 98289628 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 98289628 98289628 C G SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.445 p.A149P 0.766 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 98 0 0 73 24 24.7423 TBC1D2 0 genome.wustl.edu 37 9 100983263 100983263 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 100983263 100983263 T C SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.1226 p.D409G 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 95 0 0 52 11 17.4603 INVS 0 genome.wustl.edu 37 9 103035332 103035332 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 103035332 103035332 A G SNP INVS ENST00000262457 human ensembl 74_37 +1 known silent c.1758 p.E586 0.821 superfamily_P-loop_NTPase pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 189 0 0 158 36 18.5567 MSANTD3 0 genome.wustl.edu 37 9 103213194 103213194 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 103213194 103213194 T C SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known silent c.774 p.F258 0.999 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 119 0 0 86 23 21.1009 ABCA1 0 genome.wustl.edu 37 9 107594877 107594877 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 107594877 107594877 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.1487 p.R496Q 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 129 0 0 77 20 20.6186 SLC44A1 0 genome.wustl.edu 37 9 108118594 108118594 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 108118594 108118594 T C SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known missense c.602 p.L201S 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 198 0 0 155 25 13.8889 SLC44A1 0 genome.wustl.edu 37 9 108118607 108118607 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 108118607 108118607 T C SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known silent c.615 p.I205 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 191 0 0 137 30 17.9641 TMEM38B 0 genome.wustl.edu 37 9 108536265 108536265 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 108536265 108536265 A G SNP TMEM38B ENST00000374692 human ensembl 74_37 +1 known silent c.780 p.A260 0.001 NULL pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 176 0 0 154 34 18.0851 KLF4 0 genome.wustl.edu 37 9 110250404 110250404 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 110250404 110250404 G A SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known silent c.271 p.L91 0.900 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 40 0 0 27 7 20.5882 ACTL7A 0 genome.wustl.edu 37 9 111625200 111625200 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 111625200 111625200 T C SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.598 p.Y200H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 137 0 0 90 25 21.7391 ACTL7A 0 genome.wustl.edu 37 9 111625720 111625720 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 111625720 111625720 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.1118 p.R373H 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 117 0 0 93 14 13.0841 IKBKAP 0 genome.wustl.edu 37 9 111663739 111663739 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 111663739 111663739 G A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known silent c.1980 p.C660 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 89 0 0 48 12 20 IKBKAP 0 genome.wustl.edu 37 9 111681604 111681604 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 111681604 111681604 T C SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.578 p.D193G 0.998 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 65 0 0 57 12 17.3913 EPB41L4B 0 genome.wustl.edu 37 9 112029799 112029799 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 112029799 112029799 T C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.487 p.K163E 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 142 0 0 93 28 23.1405 PTPN3 0 genome.wustl.edu 37 9 112166752 112166752 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 112166752 112166752 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known silent c.1929 p.S643 0.543 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 124 0 0 69 21 23.3333 SVEP1 0 genome.wustl.edu 37 9 113166770 113166770 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 113166770 113166770 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.9503 p.R3168H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 613 0 0 401 108 21.2181 MUSK 0 genome.wustl.edu 37 9 113530124 113530124 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 113530124 113530124 C T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.945 p.G315 1.000 superfamily_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 217 0 0 144 20 12.1951 MUSK 0 genome.wustl.edu 37 9 113547866 113547866 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 113547866 113547866 A G SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.1646 p.H549R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 333 0 0 228 47 17.0909 KIAA0368 0 genome.wustl.edu 37 9 114184265 114184265 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 114184265 114184265 T C SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.1925 p.Y642C 0.986 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 64 0 0 48 16 25 C9orf84 0 genome.wustl.edu 37 9 114490230 114490230 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 114490230 114490230 G A SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.1325 p.A442V 0.093 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 175 0 0 135 23 14.557 SUSD1 0 genome.wustl.edu 37 9 114911561 114911561 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 114911561 114911561 G C SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.336 p.N112K 0.978 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 612 0 0 414 83 16.7002 PTBP3 0 genome.wustl.edu 37 9 114997101 114997101 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 114997101 114997101 T C SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known silent c.981 p.T327 0.999 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 84 0 0 64 11 14.6667 BSPRY 0 genome.wustl.edu 37 9 116130558 116130558 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 116130558 116130558 A G SNP BSPRY ENST00000374183 human ensembl 74_37 +1 known missense c.577 p.I193V 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC ENSG00000119411 268 0 0 169 44 20.6573 HDHD3 0 genome.wustl.edu 37 9 116136524 116136524 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 116136524 116136524 C T SNP HDHD3 ENST00000238379 human ensembl 74_37 -1 known silent c.111 p.G37 0.944 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA - no_errors HDHD3 HGNC ENSG00000119431 35 0 0 25 8 24.2424 RGS3 0 genome.wustl.edu 37 9 116303840 116303840 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 116303840 116303840 A G SNP RGS3 ENST00000492676 human ensembl 74_37 +1 known rna NULL NULL 0.958 - - - no_errors RGS3 HGNC ENSG00000138835 26 0 0 27 7 20.5882 RGS3 0 genome.wustl.edu 37 9 116356778 116356778 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 116356778 116356778 C T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.3149 p.A1050V 0.748 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 120 0 0 67 16 19.2771 AKNA 0 genome.wustl.edu 37 9 117129918 117129918 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 117129918 117129918 C A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.1633 p.G545W 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 101 0 0 90 22 19.6429 DFNB31 0 genome.wustl.edu 37 9 117186646 117186646 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 117186646 117186646 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1384 p.A462T 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 127 1 0.78125 84 12 12.5 DFNB31 0 genome.wustl.edu 37 9 117266884 117266884 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 117266884 117266884 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known silent c.198 p.H66 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 25 0 0 24 3 11.1111 FOXD4 0 genome.wustl.edu 37 9 117563 117563 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 117563 117563 T C SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known missense c.557 p.D186G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 396 1 0.251889 250 29 10.3943 TNC 0 genome.wustl.edu 37 9 117826299 117826299 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 117826299 117826299 T C SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3536 p.D1179G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 318 0 0 240 32 11.7647 TNC 0 genome.wustl.edu 37 9 117853152 117853152 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 117853152 117853152 A G SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.146 p.V49A 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 170 0 0 143 23 13.8554 PAPPA 0 genome.wustl.edu 37 9 118950133 118950133 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 118950133 118950133 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1116 p.R372 0.657 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 57 0 0 42 10 19.2308 PAPPA 0 genome.wustl.edu 37 9 118974132 118974132 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 118974132 118974132 T C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1839 p.G613 0.030 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 562 0 0 375 64 14.5786 ASTN2 0 genome.wustl.edu 37 9 119204810 119204810 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 119204810 119204810 T C SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3520 p.T1174A 1.000 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 176 0 0 104 30 22.3881 BRINP1 0 genome.wustl.edu 37 9 122011371 122011371 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 122011371 122011371 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.276 p.R92 0.979 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 103 0 0 73 13 15.1163 C5 0 genome.wustl.edu 37 9 123737152 123737152 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 123737152 123737152 G A SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.3922 p.R1308C 0.102 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 351 0 0 209 56 21.1321 DAB2IP 0 genome.wustl.edu 37 9 124543794 124543794 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 124543794 124543794 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.3366 p.A1122 0.793 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 134 0 0 85 20 19.0476 TTLL11 0 genome.wustl.edu 37 9 124751996 124751996 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 124751996 124751996 T C SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known silent c.1017 p.K339 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 293 0 0 176 40 18.5185 TTLL11 0 genome.wustl.edu 37 9 124801573 124801573 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 124801573 124801573 G A SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known silent c.807 p.S269 0.530 NULL pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 100 0 0 72 18 20 NDUFA8 0 genome.wustl.edu 37 9 124914655 124914655 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 124914655 124914655 C T SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known silent c.84 p.A28 0.271 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 79 0 0 62 27 30.3371 MRRF 0 genome.wustl.edu 37 9 125033202 125033202 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 125033202 125033202 T C SNP MRRF ENST00000344641 human ensembl 74_37 +1 known missense c.32 p.V11A 0.001 NULL pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRF HGNC ENSG00000148187 321 1 0.310559 219 51 18.8889 ZBTB6 0 genome.wustl.edu 37 9 125673881 125673881 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 125673881 125673881 A G SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known silent c.471 p.S157 0.205 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 171 0 0 130 29 18.239 RABGAP1 0 genome.wustl.edu 37 9 125827821 125827821 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 125827821 125827821 T C SNP RABGAP1 ENST00000456584 human ensembl 74_37 +1 known silent c.1785 p.S595 0.063 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 35 0 0 18 4 18.1818 CRB2 0 genome.wustl.edu 37 9 126133465 126133465 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 126133465 126133465 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2044 p.A682T 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 330 0 0 232 54 18.8811 DENND1A 0 genome.wustl.edu 37 9 126212994 126212994 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 126212994 126212994 A C SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.1238 p.V413G 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 103 0 0 94 17 15.3153 NR5A1 0 genome.wustl.edu 37 9 127245230 127245230 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 127245230 127245230 T C SNP NR5A1 ENST00000373588 human ensembl 74_37 -1 known missense c.1193 p.N398S 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A1 HGNC ENSG00000136931 103 0 0 64 21 24.7059 OLFML2A 0 genome.wustl.edu 37 9 127549284 127549284 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 127549284 127549284 A G SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.121 p.T41A 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 145 0 0 117 25 17.6056 OLFML2A 0 genome.wustl.edu 37 9 127549392 127549392 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 127549392 127549392 G T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.229 p.V77L 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 69 0 0 49 7 12.5 ANGPTL2 0 genome.wustl.edu 37 9 129870558 129870558 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 129870558 129870558 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known silent c.453 p.N151 0.925 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 56 0 0 63 14 18.1818 ZNF79 0 genome.wustl.edu 37 9 130207103 130207103 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 130207103 130207103 A G SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.1124 p.N375S 0.979 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 125 0 0 70 27 27.8351 STXBP1 0 genome.wustl.edu 37 9 130416038 130416038 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 130416038 130416038 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known silent c.132 p.C44 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 102 0 0 80 20 20 PTRH1 0 genome.wustl.edu 37 9 130476402 130476402 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 130476402 130476402 G T SNP PTRH1 ENST00000419060 human ensembl 74_37 -1 known missense c.622 p.Q208K 0.947 NULL pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro - no_errors PTRH1 HGNC ENSG00000187024 21 0 0 14 6 30 PIP5KL1 0 genome.wustl.edu 37 9 130687442 130687442 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 130687442 130687442 T C SNP PIP5KL1 ENST00000300432 human ensembl 74_37 -1 known silent c.252 p.Q84 0.985 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 102 0 0 83 10 10.7527 SLC25A25 0 genome.wustl.edu 37 9 130868031 130868031 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 130868031 130868031 C T SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known silent c.807 p.N269 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 110 0 0 72 17 19.1011 CIZ1 0 genome.wustl.edu 37 9 130941627 130941627 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 130941627 130941627 T A SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.859 p.M287L 0.961 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 144 0 0 111 29 20.7143 GOLGA2 0 genome.wustl.edu 37 9 131021357 131021357 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131021357 131021357 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2021 p.R674H 0.993 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 79 0 0 80 16 16.6667 COQ4 0 genome.wustl.edu 37 9 131087459 131087459 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131087459 131087459 C T SNP COQ4 ENST00000300452 human ensembl 74_37 +1 known silent c.240 p.R80 0.000 pfam_Coq4 pfam_Coq4 - no_errors COQ4 HGNC ENSG00000167113 74 0 0 57 6 9.52381 PKN3 0 genome.wustl.edu 37 9 131469074 131469074 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131469074 131469074 G A SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.494 p.S165N 0.821 pfam_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 30 0 0 10 3 23.0769 ENDOG 0 genome.wustl.edu 37 9 131584738 131584738 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131584738 131584738 T C SNP ENDOG ENST00000372642 human ensembl 74_37 +1 known missense c.743 p.V248A 1.000 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOG HGNC ENSG00000167136 14 0 0 14 7 33.3333 PHYHD1 0 genome.wustl.edu 37 9 131703842 131703842 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131703842 131703842 G A SNP PHYHD1 ENST00000308941 human ensembl 74_37 +1 known missense c.800 p.R267Q 0.025 NULL pfam_Phytyl_CoA_dOase - no_errors PHYHD1 HGNC ENSG00000175287 165 0 0 99 28 22.0472 DOLK 0 genome.wustl.edu 37 9 131709341 131709341 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131709341 131709341 A G SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.242 p.L81P 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 59 0 0 55 17 23.6111 NUP188 0 genome.wustl.edu 37 9 131767594 131767594 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131767594 131767594 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.4522 p.D1508N 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 105 0 0 80 21 20.7921 FAM73B 0 genome.wustl.edu 37 9 131832578 131832578 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131832578 131832578 A G SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.1628 p.Y543C 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 68 0 0 44 7 13.7255 CRAT 0 genome.wustl.edu 37 9 131857756 131857756 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131857756 131857756 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.1801 p.A601T 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 46 0 0 38 9 19.1489 C9orf106 0 genome.wustl.edu 37 9 132084350 132084350 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 132084350 132084350 T C SNP C9orf106 ENST00000316786 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors C9orf106 HGNC ENSG00000179082 9 0 0 6 3 33.3333 USP20 0 genome.wustl.edu 37 9 132620767 132620767 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 132620767 132620767 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.220 p.V74M 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 176 0 0 115 33 22.2973 USP20 0 genome.wustl.edu 37 9 132630544 132630544 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 132630544 132630544 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known silent c.951 p.A317 0.988 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 46 0 0 39 16 29.0909 FNBP1 0 genome.wustl.edu 37 9 132687349 132687349 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 132687349 132687349 G A SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.877 p.R293C 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 141 0 0 101 28 21.7054 ASS1 0 genome.wustl.edu 37 9 133342148 133342148 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 133342148 133342148 C T SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.457 p.R153W 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 88 0 0 75 8 9.63855 FUBP3 0 genome.wustl.edu 37 9 133491810 133491810 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 133491810 133491810 T C SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known missense c.473 p.I158T 0.941 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 119 0 0 72 17 19.1011 NUP214 0 genome.wustl.edu 37 9 134073745 134073745 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 134073745 134073745 T C SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.4867 p.S1623P 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 207 0 0 131 46 25.9887 POMT1 0 genome.wustl.edu 37 9 134379614 134379614 + Silent SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 134379614 134379614 A T SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known silent c.9 p.G3 0.001 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 196 0 0 157 31 16.4894 POMT1 0 genome.wustl.edu 37 9 134398559 134398559 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 134398559 134398559 T C SNP POMT1 ENST00000485278 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC ENSG00000130714 17 0 0 13 4 23.5294 UCK1 0 genome.wustl.edu 37 9 134405877 134405877 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 134405877 134405877 A T SNP UCK1 ENST00000372211 human ensembl 74_37 -1 known missense c.279 p.H93Q 1.000 pfam_PRK/URK,superfamily_P-loop_NTPase pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 133 1 0.746269 116 27 18.8811 NTNG2 0 genome.wustl.edu 37 9 135042324 135042324 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 135042324 135042324 T C SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.106 p.F36L 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 88 0 0 76 16 17.3913 SETX 0 genome.wustl.edu 37 9 135152521 135152521 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 135152521 135152521 T C SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.6861 p.R2287 0.462 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 93 0 0 76 16 17.3913 AK8 0 genome.wustl.edu 37 9 135742312 135742312 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 135742312 135742312 G A SNP AK8 ENST00000298545 human ensembl 74_37 -1 known silent c.198 p.P66 0.497 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 166 0 0 97 32 24.8062 CEL 0 genome.wustl.edu 37 9 135945877 135945877 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 135945877 135945877 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1325 p.S442F 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 91 0 0 74 15 16.8539 RALGDS 0 genome.wustl.edu 37 9 135985812 135985812 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 135985812 135985812 G A SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.572 p.T191M 0.998 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 61 0 0 46 13 22.0339 REXO4 0 genome.wustl.edu 37 9 136279819 136279819 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 136279819 136279819 T C SNP REXO4 ENST00000371942 human ensembl 74_37 -1 known missense c.538 p.K180E 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 190 0 0 131 36 21.5569 ADAMTS13 0 genome.wustl.edu 37 9 136304555 136304555 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 136304555 136304555 T C SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.1774 p.F592L 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 236 0 0 151 36 19.2513 TMEM8C 0 genome.wustl.edu 37 9 136384051 136384051 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 136384051 136384051 T C SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known missense c.344 p.Y115C 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 122 0 0 97 18 15.6522 VAV2 0 genome.wustl.edu 37 9 136641200 136641200 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 136641200 136641200 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.1968 p.P656 0.165 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 81 0 0 45 13 22.4138 VAV2 0 genome.wustl.edu 37 9 136674187 136674187 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 136674187 136674187 T C SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.641 p.Y214C 1.000 pfam_DH-domain,superfamily_DH-domain,superfamily_CH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 145 1 0.684932 75 13 14.7727 BRD3 0 genome.wustl.edu 37 9 136917441 136917441 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 136917441 136917441 T C SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.338 p.Y113C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 93 0 0 69 19 21.5909 PPP1R26 0 genome.wustl.edu 37 9 138376588 138376588 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 138376588 138376588 T C SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.232 p.C78R 0.003 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 60 0 0 44 8 15.3846 LHX3 0 genome.wustl.edu 37 9 139092558 139092558 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139092558 139092558 G A SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known missense c.136 p.R46C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 52 0 0 45 11 19.6429 PMPCA 0 genome.wustl.edu 37 9 139313291 139313291 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139313291 139313291 T C SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known missense c.1121 p.M374T 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 50 0 0 34 14 29.1667 SEC16A 0 genome.wustl.edu 37 9 139370019 139370019 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139370019 139370019 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.2049 p.T683 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 27 0 0 27 11 28.9474 SEC16A 0 genome.wustl.edu 37 9 139370931 139370931 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139370931 139370931 T C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.1137 p.G379 0.172 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 33 0 0 32 5 13.5135 MAMDC4 0 genome.wustl.edu 37 9 139752975 139752975 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139752975 139752975 A G SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.3035 p.D1012G 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 10 0 0 20 6 23.0769 TRAF2 0 genome.wustl.edu 37 9 139814796 139814796 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139814796 139814796 C T SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known silent c.945 p.H315 0.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 92 0 0 55 12 17.9104 ABCA2 0 genome.wustl.edu 37 9 139912270 139912270 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139912270 139912270 A G SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.2180 p.I727T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 27 0 0 25 4 13.7931 UAP1L1 0 genome.wustl.edu 37 9 139972986 139972986 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 139972986 139972986 C A SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known missense c.527 p.P176H 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 72 0 0 53 17 24.2857 NDOR1 0 genome.wustl.edu 37 9 140110800 140110800 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140110800 140110800 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known missense c.1753 p.P585S 0.003 NULL pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 60 0 0 36 10 21.7391 TUBB4B 0 genome.wustl.edu 37 9 140136267 140136267 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140136267 140136267 A G SNP TUBB4B ENST00000340384 human ensembl 74_37 +1 known missense c.152 p.Y51C 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 25 0 0 22 9 29.0323 NOXA1 0 genome.wustl.edu 37 9 140328738 140328738 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140328738 140328738 G A SNP NOXA1 ENST00000341349 human ensembl 74_37 +1 known missense c.1378 p.V460M 0.801 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 131 0 0 87 21 19.4444 ENTPD8 0 genome.wustl.edu 37 9 140329696 140329696 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140329696 140329696 A C SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known missense c.1256 p.F419C 0.899 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 46 0 0 30 5 14.2857 ARRDC1 0 genome.wustl.edu 37 9 140508787 140508787 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140508787 140508787 G A SNP ARRDC1 ENST00000371421 human ensembl 74_37 +1 known missense c.655 p.V219I 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 123 0 0 95 20 17.3913 EHMT1 0 genome.wustl.edu 37 9 140685319 140685319 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140685319 140685319 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2402 p.T801I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 225 0 0 128 40 23.8095 EHMT1 0 genome.wustl.edu 37 9 140728813 140728813 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140728813 140728813 T C SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3553 p.Y1185H 0.995 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 31 0 0 27 3 10 CACNA1B 0 genome.wustl.edu 37 9 140968057 140968057 + Splice_Site SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140968057 140968057 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known splice_site c.4794+1 e33+1 1.000 - - - no_errors CACNA1B HGNC ENSG00000148408 121 0 0 74 19 20.4301 CACNA1B 0 genome.wustl.edu 37 9 141016370 141016370 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 141016370 141016370 T C SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.6942 p.G2314 0.892 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 70 0 0 35 9 20.4545 FREM1 0 genome.wustl.edu 37 9 14746967 14746967 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 14746967 14746967 T C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.6095 p.Y2032C 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 40 0 0 41 8 16.3265 CCDC171 0 genome.wustl.edu 37 9 15777690 15777690 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 15777690 15777690 T C SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.2764 p.C922R 0.412 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 137 0 0 86 38 30.6452 HAUS6 0 genome.wustl.edu 37 9 19083042 19083042 + Splice_Site SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 19083042 19083042 C A SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known splice_site c.700-1 e8-1 1.000 - - - no_errors HAUS6 HGNC ENSG00000147874 102 0 0 57 23 28.75 FOCAD 0 genome.wustl.edu 37 9 20923715 20923715 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 20923715 20923715 T C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.2909 p.V970A 0.377 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 53 0 0 33 7 17.5 IFNB1 0 genome.wustl.edu 37 9 21077708 21077708 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21077708 21077708 T G SNP IFNB1 ENST00000380232 human ensembl 74_37 -1 known missense c.161 p.K54T 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNB1 HGNC ENSG00000171855 124 0 0 119 31 20.6667 IFNA17 0 genome.wustl.edu 37 9 21227977 21227977 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21227977 21227977 A G SNP IFNA17 ENST00000413767 human ensembl 74_37 -1 known missense c.196 p.F66L 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA17 HGNC ENSG00000234829 342 0 0 217 47 17.803 IFNA5 0 genome.wustl.edu 37 9 21304924 21304924 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21304924 21304924 T C SNP IFNA5 ENST00000259555 human ensembl 74_37 -1 known missense c.332 p.E111G 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA5 HGNC ENSG00000147873 227 0 0 155 33 17.5532 IFNA1 0 genome.wustl.edu 37 9 21441040 21441040 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21441040 21441040 A G SNP IFNA1 ENST00000276927 human ensembl 74_37 +1 known silent c.534 p.S178 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA1 HGNC ENSG00000197919 325 0 0 190 39 17.0306 IFNA1 0 genome.wustl.edu 37 9 21441041 21441041 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21441041 21441041 A G SNP IFNA1 ENST00000276927 human ensembl 74_37 +1 known missense c.535 p.T179A 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA1 HGNC ENSG00000197919 326 0 0 194 39 16.7382 SMARCA2 0 genome.wustl.edu 37 9 2161726 2161726 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 2161726 2161726 T C SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4022 p.V1341A 0.999 superfamily_RNaseH-like_dom pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 63 0 0 39 7 15.2174 LRRC19 0 genome.wustl.edu 37 9 26998038 26998038 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 26998038 26998038 T C SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known missense c.283 p.N95D 0.008 smart_Leu-rich_rpt_typical-subtyp smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 316 0 0 215 45 17.3077 IFT74 0 genome.wustl.edu 37 9 27009025 27009025 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 27009025 27009025 A G SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known missense c.595 p.K199E 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 66 0 0 47 10 17.5439 DDX58 0 genome.wustl.edu 37 9 32485235 32485235 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 32485235 32485235 T C SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.1418 p.Y473C 0.002 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 306 0 0 234 59 20.1365 RFX3 0 genome.wustl.edu 37 9 3262957 3262957 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 3262957 3262957 C T SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.1583 p.R528H 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 272 0 0 194 42 17.7966 APTX 0 genome.wustl.edu 37 9 32987768 32987768 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 32987768 32987768 A G SNP APTX ENST00000379819 human ensembl 74_37 -1 known missense c.299 p.V100A 1.000 superfamily_SMAD_FHA_domain pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_HIT-like - no_errors APTX HGNC ENSG00000137074 176 0 0 106 24 18.4615 DNAJA1 0 genome.wustl.edu 37 9 33038770 33038770 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33038770 33038770 A G SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known missense c.1063 p.T355A 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 97 0 0 68 12 15 SMU1 0 genome.wustl.edu 37 9 33053213 33053213 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33053213 33053213 C T SNP SMU1 ENST00000397149 human ensembl 74_37 -1 known missense c.1198 p.V400I 1.000 pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 204 0 0 158 42 21 B4GALT1 0 genome.wustl.edu 37 9 33120581 33120581 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33120581 33120581 A G SNP B4GALT1 ENST00000379731 human ensembl 74_37 -1 known silent c.672 p.R224 0.422 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 123 0 0 86 15 14.8515 AQP7 0 genome.wustl.edu 37 9 33386157 33386157 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33386157 33386157 A G SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known missense c.443 p.V148A 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 160 0 0 100 12 10.7143 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 66 0 0 59 6 9.23077 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 101 0 0 75 5 6.25 RPP25L 0 genome.wustl.edu 37 9 34611198 34611198 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 34611198 34611198 A G SNP RPP25L ENST00000297613 human ensembl 74_37 -1 known silent c.96 p.D32 0.999 pfam_DNA/RNA-bd_Alba-like pfam_DNA/RNA-bd_Alba-like - no_errors RPP25L HGNC ENSG00000164967 85 0 0 44 9 16.9811 ARID3C 0 genome.wustl.edu 37 9 34622508 34622508 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 34622508 34622508 T C SNP ARID3C ENST00000378909 human ensembl 74_37 -1 known missense c.884 p.N295S 0.833 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3C HGNC ENSG00000205143 131 0 0 88 23 20.7207 SIGMAR1 0 genome.wustl.edu 37 9 34635783 34635783 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 34635783 34635783 T C SNP SIGMAR1 ENST00000277010 human ensembl 74_37 -1 known missense c.518 p.Y173C 0.999 pfam_ERG2_sigma1_rcpt-like pfam_ERG2_sigma1_rcpt-like - no_errors SIGMAR1 HGNC ENSG00000147955 59 0 0 44 14 24.1379 GALT 0 genome.wustl.edu 37 9 34646867 34646867 + RNA SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 34646867 34646867 T C SNP GALT ENST00000557541 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GALT HGNC ENSG00000213930 22 0 0 14 8 36.3636 PIGO 0 genome.wustl.edu 37 9 35088833 35088833 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35088833 35088833 C T SNP PIGO ENST00000491687 human ensembl 74_37 -1 known rna NULL NULL 0.383 - - - no_errors PIGO HGNC ENSG00000165282 10 0 0 6 2 25 PIGO 0 genome.wustl.edu 37 9 35091856 35091856 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35091856 35091856 C T SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.2028 p.A676 0.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 53 0 0 35 7 16.6667 STOML2 0 genome.wustl.edu 37 9 35100102 35100102 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35100102 35100102 C A SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.1001 p.G334V 0.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 284 0 0 199 47 19.1057 UNC13B 0 genome.wustl.edu 37 9 35378381 35378381 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35378381 35378381 A G SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.1906 p.T636A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 250 1 0.398406 215 55 20.3704 UNC13B 0 genome.wustl.edu 37 9 35403993 35403993 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35403993 35403993 T A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.4796 p.L1599H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 92 0 0 57 9 13.6364 RUSC2 0 genome.wustl.edu 37 9 35547398 35547398 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35547398 35547398 A G SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.880 p.T294A 0.126 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 118 0 0 100 24 19.3548 TESK1 0 genome.wustl.edu 37 9 35609379 35609379 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35609379 35609379 C T SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known silent c.1521 p.S507 0.779 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 81 0 0 57 9 13.6364 TLN1 0 genome.wustl.edu 37 9 35707150 35707150 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35707150 35707150 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.4874 p.R1625Q 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 163 0 0 111 26 18.9781 MSMP 0 genome.wustl.edu 37 9 35752993 35752993 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35752993 35752993 C T SNP MSMP ENST00000414286 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors MSMP HGNC ENSG00000215183 24 0 0 11 8 42.1053 TMEM8B 0 genome.wustl.edu 37 9 35852855 35852855 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 35852855 35852855 T C SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.851 p.V284A 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 282 0 0 182 41 18.3857 MELK 0 genome.wustl.edu 37 9 36643018 36643018 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 36643018 36643018 G A SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.859 p.V287I 0.389 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MELK HGNC ENSG00000165304 104 0 0 74 11 12.9412 FBXO10 0 genome.wustl.edu 37 9 37541449 37541449 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 37541449 37541449 T C SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.317 p.E106G 1.000 superfamily_Pectin_lyase_fold/virulence pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 112 0 0 94 19 16.8142 FRMPD1 0 genome.wustl.edu 37 9 37745884 37745884 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 37745884 37745884 T C SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known silent c.3855 p.S1285 0.603 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 170 0 0 140 37 20.904 TRMT10B 0 genome.wustl.edu 37 9 37768227 37768227 + Splice_Site SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 37768227 37768227 T C SNP TRMT10B ENST00000297994 human ensembl 74_37 +1 known splice_site c.573+2 e4+2 1.000 - - - no_errors TRMT10B HGNC ENSG00000165275 304 0 0 194 46 19.1667 DOCK8 0 genome.wustl.edu 37 9 382641 382641 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 382641 382641 C A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.2734 p.H912N 0.989 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 89 0 0 82 19 18.8119 ALDH1B1 0 genome.wustl.edu 37 9 38397185 38397185 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 38397185 38397185 G A SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known silent c.1440 p.T480 0.630 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 79 0 0 56 21 27.2727 ZNF658 0 genome.wustl.edu 37 9 40774856 40774856 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 40774856 40774856 T C SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.419 p.D140G 0.810 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 115 0 0 65 15 18.75 GLIS3 0 genome.wustl.edu 37 9 4118618 4118618 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 4118618 4118618 C T SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.860 p.R287Q 0.977 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 160 0 0 110 32 22.5352 SPATA31A6 0 genome.wustl.edu 37 9 43627524 43627524 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 43627524 43627524 T C SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1163 p.N388S 0.002 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 452 0 0 290 75 20.5479 ERMP1 0 genome.wustl.edu 37 9 5811260 5811260 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 5811260 5811260 T G SNP ERMP1 ENST00000339450 human ensembl 74_37 -1 known missense c.1178 p.K393T 0.998 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 176 0 0 131 29 18.125 KIAA2026 0 genome.wustl.edu 37 9 5929149 5929149 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 5929149 5929149 T C SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.2393 p.Y798C 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 122 0 0 78 15 16.129 KIAA2026 0 genome.wustl.edu 37 9 5968410 5968410 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 5968410 5968410 T C SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.1821 p.P607 0.997 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 246 0 0 174 42 19.4444 KIAA2026 0 genome.wustl.edu 37 9 5988525 5988525 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 5988525 5988525 G A SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.614 p.T205M 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 75 0 0 56 13 18.8406 RANBP6 0 genome.wustl.edu 37 9 6012876 6012876 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 6012876 6012876 A G SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.2732 p.V911A 0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 155 0 0 96 25 20.6612 UHRF2 0 genome.wustl.edu 37 9 6486850 6486850 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 6486850 6486850 T C SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known silent c.1422 p.H474 1.000 pfam_SRA_YDG,smart_SRA_YDG,pfscan_SRA_YDG pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 95 0 0 62 15 19.4805 GLDC 0 genome.wustl.edu 37 9 6536071 6536071 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 6536071 6536071 G A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.2831 p.P944L 1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 82 0 0 80 22 21.5686 KDM4C 0 genome.wustl.edu 37 9 6984274 6984274 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 6984274 6984274 T G SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.1224 p.D408E 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 134 0 0 70 25 26.3158 PRKACG 0 genome.wustl.edu 37 9 71628684 71628684 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 71628684 71628684 A G SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.325 p.F109L 0.088 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 161 0 0 94 25 21.0084 PRKACG 0 genome.wustl.edu 37 9 71628958 71628958 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 71628958 71628958 G A SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known silent c.51 p.N17 0.979 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 71 0 0 44 21 32.3077 C9orf135 0 genome.wustl.edu 37 9 72501762 72501762 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 72501762 72501762 T A SNP C9orf135 ENST00000377197 human ensembl 74_37 +1 known nonsense c.458 p.L153* 0.468 NULL NULL - no_errors C9orf135 HGNC ENSG00000204711 160 0 0 109 28 20.438 TRPM3 0 genome.wustl.edu 37 9 73151634 73151634 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 73151634 73151634 T C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.4440 p.R1480 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 118 0 0 92 9 8.91089 TRPM3 0 genome.wustl.edu 37 9 73213424 73213424 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 73213424 73213424 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.3004 p.V1002M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 272 0 0 173 54 23.7885 ALDH1A1 0 genome.wustl.edu 37 9 75524662 75524662 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 75524662 75524662 A G SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known missense c.1214 p.V405A 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 212 0 0 149 32 17.6796 RORB 0 genome.wustl.edu 37 9 77257488 77257488 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 77257488 77257488 A G SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.427 p.N143D 0.997 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 97 0 0 82 12 12.766 TRPM6 0 genome.wustl.edu 37 9 77435270 77435270 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 77435270 77435270 A G SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.1084 p.S362P 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 128 0 0 98 18 15.5172 OSTF1 0 genome.wustl.edu 37 9 77755814 77755814 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 77755814 77755814 C T SNP OSTF1 ENST00000346234 human ensembl 74_37 +1 known silent c.552 p.A184 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt - no_errors OSTF1 HGNC ENSG00000134996 185 0 0 123 24 16.3265 PCSK5 0 genome.wustl.edu 37 9 78749046 78749046 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 78749046 78749046 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.1230 p.D410 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 171 1 0.581395 116 15 11.4504 PCSK5 0 genome.wustl.edu 37 9 78790138 78790138 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 78790138 78790138 A G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.1993 p.K665E 0.037 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 32 0 0 27 8 22.8571 PCSK5 0 genome.wustl.edu 37 9 78947412 78947412 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 78947412 78947412 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.4553 p.A1518V 0.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 65 0 0 43 10 18.8679 PCSK5 0 genome.wustl.edu 37 9 78953321 78953321 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 78953321 78953321 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known nonsense c.4843 p.Q1615* 0.008 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 52 0 0 34 8 19.0476 PCSK5 0 genome.wustl.edu 37 9 78973828 78973828 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 78973828 78973828 A G SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.5573 p.Y1858C 0.451 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 71 0 0 59 10 14.4928 FOXB2 0 genome.wustl.edu 37 9 79634951 79634951 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 79634951 79634951 G A SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.381 p.A127 0.018 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 12 0 0 14 5 26.3158 VPS13A 0 genome.wustl.edu 37 9 79952387 79952387 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 79952387 79952387 A G SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6312 p.I2104M 0.155 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 239 0 0 173 52 23.1111 TLE4 0 genome.wustl.edu 37 9 82308557 82308557 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 82308557 82308557 A G SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.601 p.K201E 0.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 119 0 0 71 22 23.6559 PTPRD 0 genome.wustl.edu 37 9 8500960 8500960 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 8500960 8500960 A G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1922 p.I641T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 234 0 0 185 39 17.4107 PTPRD 0 genome.wustl.edu 37 9 8518133 8518133 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 8518133 8518133 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1258 p.A420T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 267 0 0 199 56 21.9608 PTPRD 0 genome.wustl.edu 37 9 8521543 8521543 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 8521543 8521543 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.695 p.R232H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 123 0 0 99 8 7.47664 FRMD3 0 genome.wustl.edu 37 9 85925432 85925432 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 85925432 85925432 T G SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.805 p.K269Q 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 538 0 0 346 71 17.0264 UBQLN1 0 genome.wustl.edu 37 9 86292640 86292640 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 86292640 86292640 A G SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known splice_site c.1105+2 e6+2 0.998 - - - no_errors UBQLN1 HGNC ENSG00000135018 57 0 0 43 5 10.4167 GKAP1 0 genome.wustl.edu 37 9 86357453 86357453 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 86357453 86357453 T C SNP GKAP1 ENST00000376371 human ensembl 74_37 -1 known missense c.967 p.T323A 0.998 NULL NULL - no_errors GKAP1 HGNC ENSG00000165113 265 0 0 218 40 15.5039 AGTPBP1 0 genome.wustl.edu 37 9 88236136 88236136 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 88236136 88236136 A G SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.2116 p.Y706H 0.999 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 130 0 0 92 24 20.6897 CTSL3P 0 genome.wustl.edu 37 9 90388469 90388469 + RNA SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 90388469 90388469 C T SNP CTSL3P ENST00000354530 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTSL3P HGNC ENSG00000188029 186 0 0 151 30 16.5746 DMRT1 0 genome.wustl.edu 37 9 916875 916875 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 916875 916875 A G SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known missense c.935 p.D312G 0.983 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 95 0 0 71 18 20.2247 IARS 0 genome.wustl.edu 37 9 95050089 95050089 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 95050089 95050089 T A SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.380 p.Y127F 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 285 0 0 196 57 22.5296 OGN 0 genome.wustl.edu 37 9 95165630 95165630 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 95165630 95165630 T C SNP OGN ENST00000262551 human ensembl 74_37 -1 known silent c.60 p.A20 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 67 0 0 52 13 20 IPPK 0 genome.wustl.edu 37 9 95378327 95378327 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 95378327 95378327 C T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known silent c.1263 p.R421 0.991 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 48 0 0 38 7 15.5556 IPPK 0 genome.wustl.edu 37 9 95432206 95432206 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 95432206 95432206 A G SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.65 p.V22A 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 33 0 0 36 7 16.2791 WNK2 0 genome.wustl.edu 37 9 95947742 95947742 + Missense_Mutation SNP G G C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 95947742 95947742 G C SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.531 p.E177D 0.932 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 22 0 0 7 5 41.6667 FAM120A 0 genome.wustl.edu 37 9 96323469 96323469 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 96323469 96323469 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.2969 p.R990Q 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 76 0 0 63 15 19.2308 PTPDC1 0 genome.wustl.edu 37 9 96847621 96847621 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 96847621 96847621 G A SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known silent c.171 p.A57 0.027 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 158 0 0 112 29 20.5674 FANCC 0 genome.wustl.edu 37 9 97887409 97887409 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 97887409 97887409 T C SNP FANCC ENST00000289081 human ensembl 74_37 -1 known missense c.955 p.T319A 0.965 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 159 0 0 85 26 23.4234 PTCH1 0 genome.wustl.edu 37 9 98231280 98231280 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 98231280 98231280 T C SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2003 p.Y668C 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 152 1 0.653595 97 21 17.7966 ERCC6L2 0 genome.wustl.edu 37 9 98683534 98683534 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 98683534 98683534 A G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.702 p.I234M 0.973 pfam_SNF2_N,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 124 0 0 96 21 17.9487 ERCC6L2 0 genome.wustl.edu 37 9 98740497 98740497 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 98740497 98740497 G T SNP ERCC6L2 ENST00000407474 human ensembl 74_37 +1 known missense c.435 p.K145N 1.000 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 34 0 0 32 3 8.57143 GLA 0 genome.wustl.edu 37 X 100653514 100653514 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 100653514 100653514 T C SNP GLA ENST00000218516 human ensembl 74_37 -1 known silent c.843 p.V281 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 180 0 0 133 56 29.6296 TCEAL2 0 genome.wustl.edu 37 X 101382092 101382092 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 101382092 101382092 G T SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known missense c.290 p.G97V 0.002 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 9 0 0 13 7 35 CLCN4 0 genome.wustl.edu 37 X 10181871 10181871 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 10181871 10181871 T A SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.1727 p.I576N 1.000 superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 72 0 0 67 16 19.2771 NXF3 0 genome.wustl.edu 37 X 102339744 102339744 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 102339744 102339744 A G SNP NXF3 ENST00000395065 human ensembl 74_37 -1 known silent c.96 p.S32 0.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 227 0 0 218 66 23.2394 RAB40A 0 genome.wustl.edu 37 X 102754895 102754895 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 102754895 102754895 T G SNP RAB40A ENST00000304236 human ensembl 74_37 -1 known missense c.790 p.S264R 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 109 0 0 49 58 54.2056 SERPINA7 0 genome.wustl.edu 37 X 105280958 105280958 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 105280958 105280958 T C SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known missense c.92 p.H31R 0.144 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 216 0 0 154 52 25.2427 MID1 0 genome.wustl.edu 37 X 10534991 10534991 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 10534991 10534991 T C SNP MID1 ENST00000317552 human ensembl 74_37 -1 known silent c.597 p.K199 0.998 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 48 0 0 59 20 25.3165 FRMPD3 0 genome.wustl.edu 37 X 106846082 106846082 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 106846082 106846082 C A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.4912 p.L1638M 0.974 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 18 0 0 10 15 60 VSIG1 0 genome.wustl.edu 37 X 107310235 107310235 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 107310235 107310235 G A SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known missense c.391 p.D131N 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 165 0 0 93 115 55.2885 ATG4A 0 genome.wustl.edu 37 X 107374535 107374535 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 107374535 107374535 G A SNP ATG4A ENST00000372232 human ensembl 74_37 +1 known missense c.239 p.R80H 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 159 0 0 198 12 5.71429 COL4A6 0 genome.wustl.edu 37 X 107408254 107408254 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 107408254 107408254 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.3826 p.A1276T 0.630 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 27 0 0 17 44 72.1311 NXT2 0 genome.wustl.edu 37 X 108785800 108785800 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 108785800 108785800 A G SNP NXT2 ENST00000218004 human ensembl 74_37 +1 known silent c.477 p.G159 0.915 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC ENSG00000101888 134 0 0 114 35 23.4899 LUZP4 0 genome.wustl.edu 37 X 114540914 114540914 + Nonsense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 114540914 114540914 C T SNP LUZP4 ENST00000371920 human ensembl 74_37 +1 known nonsense c.487 p.R163* 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 126 0 0 56 89 61.3793 WDR44 0 genome.wustl.edu 37 X 117527127 117527127 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 117527127 117527127 C G SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known missense c.719 p.T240S 0.928 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 155 1 0.641026 154 15 8.87574 MSL3 0 genome.wustl.edu 37 X 11778586 11778586 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 11778586 11778586 C T SNP MSL3 ENST00000312196 human ensembl 74_37 +1 known missense c.250 p.R84C 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 89 0 0 51 67 56.7797 IL13RA1 0 genome.wustl.edu 37 X 117925753 117925753 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 117925753 117925753 A G SNP IL13RA1 ENST00000371666 human ensembl 74_37 +1 known missense c.1220 p.K407R 1.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 89 0 0 89 40 31.0078 KIAA1210 0 genome.wustl.edu 37 X 118220920 118220920 + Missense_Mutation SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 118220920 118220920 G T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.4273 p.P1425T 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 177 0 0 72 85 54.1401 PGRMC1 0 genome.wustl.edu 37 X 118374362 118374362 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 118374362 118374362 A G SNP PGRMC1 ENST00000217971 human ensembl 74_37 +1 known missense c.419 p.D140G 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 124 0 0 72 106 59.5506 UPF3B 0 genome.wustl.edu 37 X 118979166 118979166 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 118979166 118979166 T C SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known missense c.464 p.D155G 0.999 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 141 0 0 116 39 25.1613 NDUFA1 0 genome.wustl.edu 37 X 119007297 119007297 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 119007297 119007297 T C SNP NDUFA1 ENST00000371437 human ensembl 74_37 +1 known missense c.133 p.W45R 0.623 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 121 0 0 125 37 22.8395 RHOXF1 0 genome.wustl.edu 37 X 119249597 119249597 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 119249597 119249597 C T SNP RHOXF1 ENST00000217999 human ensembl 74_37 -1 known missense c.176 p.G59D 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 54 0 0 66 20 23.2558 GRIA3 0 genome.wustl.edu 37 X 122599637 122599637 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 122599637 122599637 A G SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.2437 p.K813E 1.000 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 36 0 0 31 11 26.1905 THOC2 0 genome.wustl.edu 37 X 122766892 122766892 + Splice_Site SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 122766892 122766892 C A SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known splice_site c.2137-1 e21-1 1.000 - - - no_errors THOC2 HGNC ENSG00000125676 54 0 0 51 11 17.7419 SH2D1A 0 genome.wustl.edu 37 X 123504039 123504039 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 123504039 123504039 T C SNP SH2D1A ENST00000371139 human ensembl 74_37 +1 known missense c.215 p.V72A 1.000 pfam_SH2,smart_SH2,pirsf_SH2_prot_1A,pfscan_SH2 pfam_SH2,smart_SH2,pirsf_SH2_prot_1A,pfscan_SH2,prints_SH2 - no_errors SH2D1A HGNC ENSG00000183918 210 0 0 75 90 54.5455 TENM1 0 genome.wustl.edu 37 X 123517933 123517933 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 123517933 123517933 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.6848 p.N2283S 0.999 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 197 0 0 122 151 55.3114 TENM1 0 genome.wustl.edu 37 X 123657295 123657295 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 123657295 123657295 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.2952 p.P984 0.995 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 114 0 0 75 82 52.2293 PRPS2 0 genome.wustl.edu 37 X 12837742 12837742 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 12837742 12837742 C T SNP PRPS2 ENST00000398491 human ensembl 74_37 +1 known missense c.656 p.A219V 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 226 0 0 194 70 26.5152 UTP14A 0 genome.wustl.edu 37 X 129053461 129053461 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 129053461 129053461 A G SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.748 p.K250E 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 55 0 0 63 15 19.2308 BCORL1 0 genome.wustl.edu 37 X 129189907 129189907 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 129189907 129189907 G A SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.5154 p.P1718 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 195 0 0 103 144 58.2996 RBMX2 0 genome.wustl.edu 37 X 129546413 129546413 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 129546413 129546413 C T SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known missense c.560 p.S187L 0.007 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 52 0 0 26 47 64.3836 RAP2C 0 genome.wustl.edu 37 X 131348328 131348328 + Nonsense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 131348328 131348328 A T SNP RAP2C ENST00000342983 human ensembl 74_37 -1 known nonsense c.420 p.C140* 0.977 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 155 0 0 80 115 58.9744 CCDC160 0 genome.wustl.edu 37 X 133379180 133379180 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 133379180 133379180 A G SNP CCDC160 ENST00000370809 human ensembl 74_37 +1 known missense c.350 p.N117S 0.000 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 12 0 0 11 7 38.8889 ATP11C 0 genome.wustl.edu 37 X 138878614 138878614 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 138878614 138878614 T C SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.1033 p.T345A 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 102 0 0 41 66 61.6822 GEMIN8 0 genome.wustl.edu 37 X 14027269 14027269 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 14027269 14027269 A T SNP GEMIN8 ENST00000380523 human ensembl 74_37 -1 known missense c.492 p.D164E 0.059 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 46 0 0 57 20 25.974 MAGEC3 0 genome.wustl.edu 37 X 140983059 140983059 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 140983059 140983059 G A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known nonsense c.914 p.W305* 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 97 0 0 39 57 59.375 SLITRK2 0 genome.wustl.edu 37 X 144903977 144903977 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 144903977 144903977 A G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.34 p.T12A 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 37 0 0 38 5 11.6279 MIR513A2 0 genome.wustl.edu 37 X 146307346 146307346 + RNA SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 146307346 146307346 A T SNP MIR513A2 ENST00000385249 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors MIR513A2 HGNC ENSG00000207984 101 0 0 94 20 17.5439 FMR1NB 0 genome.wustl.edu 37 X 147106430 147106430 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 147106430 147106430 G T SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known silent c.678 p.T226 0.000 NULL superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 125 0 0 56 72 56.25 AFF2 0 genome.wustl.edu 37 X 148037624 148037624 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 148037624 148037624 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.2049 p.E683 0.995 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 137 0 0 107 33 23.5714 FANCB 0 genome.wustl.edu 37 X 14883327 14883327 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 14883327 14883327 A G SNP FANCB ENST00000324138 human ensembl 74_37 -1 known silent c.306 p.N102 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 43 0 0 50 18 26.4706 PASD1 0 genome.wustl.edu 37 X 150844591 150844591 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 150844591 150844591 A G SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known silent c.2298 p.Q766 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 88 0 0 73 26 26.2626 PRRG3 0 genome.wustl.edu 37 X 150869406 150869406 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 150869406 150869406 G A SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known silent c.597 p.A199 0.087 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 47 0 0 26 28 51.8519 PRRG3 0 genome.wustl.edu 37 X 150869501 150869501 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 150869501 150869501 A G SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known missense c.692 p.K231R 0.989 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 70 0 0 48 14 22.5806 GABRQ 0 genome.wustl.edu 37 X 151806730 151806730 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 151806730 151806730 A G SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.74 p.Y25C 0.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 38 0 0 26 16 38.0952 ZNF275 0 genome.wustl.edu 37 X 152613253 152613253 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 152613253 152613253 C T SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known silent c.1200 p.I400 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 13 0 0 7 9 56.25 ATP2B3 0 genome.wustl.edu 37 X 152813387 152813387 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 152813387 152813387 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1053 p.N351 0.019 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 82 0 0 66 19 22.3529 PLXNB3 0 genome.wustl.edu 37 X 153043053 153043053 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153043053 153043053 C A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5240 p.A1747D 0.988 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 153 0 0 129 36 21.8182 ASB11 0 genome.wustl.edu 37 X 15311390 15311390 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 15311390 15311390 C T SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known missense c.422 p.S141N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 160 0 0 74 111 60 HCFC1 0 genome.wustl.edu 37 X 153225269 153225269 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153225269 153225269 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.1428 p.T476 0.006 smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 39 0 0 33 26 44.0678 TKTL1 0 genome.wustl.edu 37 X 153557991 153557991 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153557991 153557991 A G SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.1744 p.S582G 0.998 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 157 0 0 133 54 28.877 FLNA 0 genome.wustl.edu 37 X 153578115 153578115 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153578115 153578115 A G SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.7454 p.V2485A 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 32 0 0 32 13 28.8889 FLNA 0 genome.wustl.edu 37 X 153588878 153588878 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153588878 153588878 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.3285 p.A1095 0.032 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 29 0 0 12 30 71.4286 FLNA 0 genome.wustl.edu 37 X 153593012 153593012 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153593012 153593012 T C SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.1904 p.Y635C 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 62 0 0 54 25 31.6456 FLNA 0 genome.wustl.edu 37 X 153594737 153594737 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153594737 153594737 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.1167 p.P389 0.287 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 61 0 0 52 22 29.7297 FAM50A 0 genome.wustl.edu 37 X 153674214 153674214 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153674214 153674214 G A SNP FAM50A ENST00000393600 human ensembl 74_37 +1 known missense c.251 p.R84Q 1.000 NULL pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 27 0 0 23 7 23.3333 PLXNA3 0 genome.wustl.edu 37 X 153688930 153688930 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153688930 153688930 A G SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.407 p.H136R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 65 0 0 89 27 23.2759 GAB3 0 genome.wustl.edu 37 X 153906491 153906491 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153906491 153906491 T C SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known silent c.1728 p.K576 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 123 0 0 111 51 31.4815 F8 0 genome.wustl.edu 37 X 154130394 154130394 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 154130394 154130394 C T SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.6047 p.R2016Q 0.842 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 103 0 0 100 31 23.6641 F8 0 genome.wustl.edu 37 X 154158195 154158195 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 154158195 154158195 T C SNP F8 ENST00000360256 human ensembl 74_37 -1 known silent c.3870 p.K1290 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 206 0 0 192 71 26.9962 TMLHE 0 genome.wustl.edu 37 X 154741369 154741369 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 154741369 154741369 C T SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known silent c.723 p.R241 0.988 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 161 0 0 167 50 23.0415 SPRY3 0 genome.wustl.edu 37 X 155003541 155003541 + Missense_Mutation SNP C C A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 155003541 155003541 C A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.8 p.A3D 0.895 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 227 0 0 191 13 6.37255 BMX 0 genome.wustl.edu 37 X 15555366 15555366 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 15555366 15555366 T C SNP BMX ENST00000342014 human ensembl 74_37 +1 known silent c.1332 p.V444 0.667 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 100 0 0 90 30 25 SYAP1 0 genome.wustl.edu 37 X 16775393 16775393 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 16775393 16775393 G A SNP SYAP1 ENST00000380155 human ensembl 74_37 +1 known missense c.892 p.V298M 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 83 0 0 82 43 34.4 SCML1 0 genome.wustl.edu 37 X 17771410 17771410 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 17771410 17771410 G A SNP SCML1 ENST00000380041 human ensembl 74_37 +1 known silent c.888 p.T296 0.027 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC ENSG00000047634 144 0 0 144 8 5.26316 RAI2 0 genome.wustl.edu 37 X 17819375 17819375 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 17819375 17819375 C T SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known missense c.756 p.M252I 0.999 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 85 0 0 46 64 58.1818 GPR64 0 genome.wustl.edu 37 X 19020962 19020962 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 19020962 19020962 A G SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known splice_site c.2230+2 e22+2 1.000 - - - no_errors GPR64 HGNC ENSG00000173698 134 0 0 99 28 22.0472 GPR64 0 genome.wustl.edu 37 X 19031984 19031984 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 19031984 19031984 A G SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.919 p.S307P 0.903 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 111 1 0.892857 47 60 56.0748 GPR64 0 genome.wustl.edu 37 X 19041550 19041550 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 19041550 19041550 T C SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.532 p.T178A 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 65 0 0 61 19 23.75 RPS6KA3 0 genome.wustl.edu 37 X 20190977 20190977 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 20190977 20190977 T C SNP RPS6KA3 ENST00000379565 human ensembl 74_37 -1 known missense c.1240 p.N414D 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 54 0 0 38 46 54.7619 CNKSR2 0 genome.wustl.edu 37 X 21581506 21581506 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 21581506 21581506 T C SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.1544 p.L515S 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 120 0 0 93 31 25 MBTPS2 0 genome.wustl.edu 37 X 21896666 21896666 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 21896666 21896666 A G SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.1117 p.T373A 0.999 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 165 0 0 133 48 26.5193 MBTPS2 0 genome.wustl.edu 37 X 21896713 21896713 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 21896713 21896713 A G SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.1164 p.I388M 0.924 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 216 1 0.460829 168 48 22.2222 PHEX 0 genome.wustl.edu 37 X 22196458 22196458 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 22196458 22196458 T G SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.1551 p.D517E 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 67 0 0 65 22 25.2874 ZBED1 0 genome.wustl.edu 37 X 2406722 2406722 + Missense_Mutation SNP C C G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 2406722 2406722 C G SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.2039 p.G680A 0.162 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 107 1 0.925926 57 7 10.9375 PPP2R3B 0 genome.wustl.edu 37 X 301587 301587 + Nonsense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 301587 301587 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known nonsense c.1264 p.R422* 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 64 0 0 30 25 45.4545 GK 0 genome.wustl.edu 37 X 30745650 30745650 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 30745650 30745650 C T SNP GK ENST00000378943 human ensembl 74_37 +1 known silent c.1632 p.I544 1.000 NULL pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 31 0 0 13 32 71.1111 DMD 0 genome.wustl.edu 37 X 31222113 31222113 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 31222113 31222113 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.9772 p.N3258D 1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 44 0 0 58 22 27.5 DMD 0 genome.wustl.edu 37 X 31496459 31496459 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 31496459 31496459 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8701 p.T2901A 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 105 0 0 60 57 48.7179 MXRA5 0 genome.wustl.edu 37 X 3227797 3227797 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 3227797 3227797 A T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.8447 p.L2816H 0.276 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 35 0 0 26 14 35 MXRA5 0 genome.wustl.edu 37 X 3228420 3228420 + Silent SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 3228420 3228420 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.7824 p.S2608 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 19 0 0 12 13 52 MXRA5 0 genome.wustl.edu 37 X 3239210 3239210 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 3239210 3239210 T C SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.4516 p.T1506A 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 109 0 0 119 43 26.5432 DMD 0 genome.wustl.edu 37 X 33229443 33229443 + RNA SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 33229443 33229443 T A SNP DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors DMD HGNC ENSG00000198947 25 0 0 18 23 56.0976 FAM47A 0 genome.wustl.edu 37 X 34150216 34150216 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 34150216 34150216 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.180 p.Y60 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 67 0 0 49 48 49.4845 PRKX 0 genome.wustl.edu 37 X 3573212 3573212 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 3573212 3573212 A G SNP PRKX ENST00000262848 human ensembl 74_37 -1 known missense c.577 p.F193L 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKX HGNC ENSG00000183943 86 0 0 94 22 18.9655 SYTL5 0 genome.wustl.edu 37 X 37935887 37935887 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 37935887 37935887 C T SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known missense c.622 p.R208W 0.574 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL5 HGNC ENSG00000147041 79 0 0 37 69 65.0943 BCOR 0 genome.wustl.edu 37 X 39911469 39911469 + Nonsense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 39911469 39911469 T A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.5161 p.K1721* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 28 0 0 18 35 66.0377 ATP6AP2 0 genome.wustl.edu 37 X 40450603 40450603 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 40450603 40450603 T C SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.286 p.Y96H 0.994 NULL pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 57 0 0 41 17 29.3103 ATP6AP2 0 genome.wustl.edu 37 X 40464919 40464919 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 40464919 40464919 T C SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.965 p.I322T 1.000 pfam_Renin_rcpt pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 119 0 0 96 37 27.8195 MED14 0 genome.wustl.edu 37 X 40518548 40518548 + Silent SNP G G T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 40518548 40518548 G T SNP MED14 ENST00000324817 human ensembl 74_37 -1 known silent c.3903 p.A1301 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 14 0 0 3 2 40 USP9X 0 genome.wustl.edu 37 X 40994031 40994031 + Missense_Mutation SNP A A C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 40994031 40994031 A C SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.376 p.I126L 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 108 0 0 68 78 53.4247 NYX 0 genome.wustl.edu 37 X 41333485 41333485 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 41333485 41333485 A G SNP NYX ENST00000342595 human ensembl 74_37 +1 known missense c.779 p.N260S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 12 0 0 3 7 70 EFHC2 0 genome.wustl.edu 37 X 44109680 44109680 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 44109680 44109680 G A SNP EFHC2 ENST00000420999 human ensembl 74_37 -1 known silent c.618 p.H206 0.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 39 0 0 17 30 63.8298 RBM10 0 genome.wustl.edu 37 X 47030548 47030548 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 47030548 47030548 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.323 p.R108Q 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 11 0 0 17 3 15 CDK16 0 genome.wustl.edu 37 X 47087990 47087990 + Missense_Mutation SNP A A T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 47087990 47087990 A T SNP CDK16 ENST00000276052 human ensembl 74_37 +1 known missense c.1622 p.E541V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK16 HGNC ENSG00000102225 75 0 0 38 38 50 USP11 0 genome.wustl.edu 37 X 47100775 47100775 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 47100775 47100775 G A SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.1075 p.A359T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 56 0 0 26 54 67.5 USP11 0 genome.wustl.edu 37 X 47107040 47107040 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 47107040 47107040 G A SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.2696 p.G899D 0.973 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 79 0 0 73 32 30.4762 ARAF 0 genome.wustl.edu 37 X 47428172 47428172 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 47428172 47428172 T C SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.1132 p.F378L 0.965 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 24 0 0 23 7 23.3333 ZNF182 0 genome.wustl.edu 37 X 47836190 47836190 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 47836190 47836190 A G SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known silent c.1296 p.C432 0.792 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 129 0 0 111 39 26 KCND1 0 genome.wustl.edu 37 X 48826140 48826140 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 48826140 48826140 T C SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.539 p.H180R 1.000 prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 13 0 0 10 7 41.1765 MAGIX 0 genome.wustl.edu 37 X 49020804 49020804 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 49020804 49020804 A G SNP MAGIX ENST00000498742 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGIX HGNC ENSG00000017621 16 0 0 20 7 25.9259 CACNA1F 0 genome.wustl.edu 37 X 49082529 49082529 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 49082529 49082529 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.1526 p.R509H 0.988 prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 9 0 0 6 3 33.3333 PPP1R3F 0 genome.wustl.edu 37 X 49143293 49143293 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 49143293 49143293 T C SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.2141 p.V714A 0.002 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 19 0 0 18 21 53.8462 PPP1R3F 0 genome.wustl.edu 37 X 49143411 49143411 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 49143411 49143411 T C SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known silent c.2259 p.C753 0.936 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 44 0 0 52 14 21.2121 AKAP4 0 genome.wustl.edu 37 X 49957564 49957564 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 49957564 49957564 T C SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.1800 p.Q600 0.861 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 134 0 0 155 46 22.8856 DGKK 0 genome.wustl.edu 37 X 50146513 50146513 + RNA SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 50146513 50146513 G A SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 96 0 0 30 61 67.033 TSPYL2 0 genome.wustl.edu 37 X 53114010 53114010 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 53114010 53114010 A G SNP TSPYL2 ENST00000375442 human ensembl 74_37 +1 known missense c.959 p.N320S 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 56 0 0 57 19 25 IQSEC2 0 genome.wustl.edu 37 X 53285092 53285092 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 53285092 53285092 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.889 p.R297C 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 13 0 0 7 12 63.1579 HUWE1 0 genome.wustl.edu 37 X 53563521 53563521 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 53563521 53563521 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.12245 p.R4082H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 93 0 0 67 30 30.9278 PHF8 0 genome.wustl.edu 37 X 54022124 54022124 + Splice_Site SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 54022124 54022124 A G SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known splice_site c.1431+2 e12+2 1.000 - - - no_errors PHF8 HGNC ENSG00000172943 19 0 0 27 4 12.9032 FGD1 0 genome.wustl.edu 37 X 54475618 54475618 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 54475618 54475618 A G SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.2232 p.N744 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 56 0 0 51 22 30.137 FGD1 0 genome.wustl.edu 37 X 54492003 54492003 + Missense_Mutation SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 54492003 54492003 T A SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.1517 p.N506I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 17 0 0 8 19 70.3704 FGD1 0 genome.wustl.edu 37 X 54497788 54497788 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 54497788 54497788 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.440 p.R147H 0.979 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 72 0 0 55 13 19.1176 TRO 0 genome.wustl.edu 37 X 54956700 54956700 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 54956700 54956700 T C SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.3543 p.G1181 0.011 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 92 0 0 85 35 29.1667 PAGE2 0 genome.wustl.edu 37 X 55117854 55117854 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 55117854 55117854 A G SNP PAGE2 ENST00000374968 human ensembl 74_37 +1 known missense c.283 p.M95V 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE2 HGNC ENSG00000234068 206 0 0 171 55 24.3363 USP51 0 genome.wustl.edu 37 X 55513438 55513438 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 55513438 55513438 A G SNP USP51 ENST00000500968 human ensembl 74_37 -1 known silent c.1935 p.N645 0.331 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 56 0 0 28 40 58.8235 KLF8 0 genome.wustl.edu 37 X 56296710 56296710 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 56296710 56296710 A G SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.854 p.Y285C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 37 0 0 38 13 25.4902 NLGN4X 0 genome.wustl.edu 37 X 5950733 5950733 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 5950733 5950733 T C SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.531 p.E177 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 25 0 0 26 9 25.7143 AMER1 0 genome.wustl.edu 37 X 63411777 63411777 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 63411777 63411777 C T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.1390 p.A464T 0.999 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 55 0 0 30 39 56.5217 AMER1 0 genome.wustl.edu 37 X 63413026 63413026 + Silent SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 63413026 63413026 G A SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known silent c.141 p.S47 0.714 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 163 0 0 118 55 31.7919 ZC4H2 0 genome.wustl.edu 37 X 64140121 64140121 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 64140121 64140121 T C SNP ZC4H2 ENST00000374839 human ensembl 74_37 -1 known missense c.238 p.I80V 1.000 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 98 0 0 47 82 63.5659 AR 0 genome.wustl.edu 37 X 66942766 66942766 + Missense_Mutation SNP T T G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 66942766 66942766 T G SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2547 p.N849K 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 38 0 0 28 12 30 OPHN1 0 genome.wustl.edu 37 X 67412815 67412815 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 67412815 67412815 A G SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.1222 p.Y408H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 73 0 0 73 23 23.9583 KIF4A 0 genome.wustl.edu 37 X 69606471 69606471 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 69606471 69606471 C T SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.2038 p.R680C 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 43 0 0 22 30 57.6923 DLG3 0 genome.wustl.edu 37 X 69670589 69670589 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 69670589 69670589 G A SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.995 p.S332N 0.996 pfam_PDZ_assoc,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 31 0 0 43 10 18.8679 ZMYM3 0 genome.wustl.edu 37 X 70471056 70471056 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 70471056 70471056 T C SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.756 p.K252 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 62 0 0 58 21 26.5823 NHSL2 0 genome.wustl.edu 37 X 71359174 71359174 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 71359174 71359174 A G SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known silent c.1776 p.L592 0.016 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 29 0 0 23 10 30.303 ERCC6L 0 genome.wustl.edu 37 X 71425175 71425175 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 71425175 71425175 C T SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.3442 p.G1148R 0.002 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 92 0 0 44 59 57.2816 ERCC6L 0 genome.wustl.edu 37 X 71428266 71428266 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 71428266 71428266 A G SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known silent c.351 p.G117 0.922 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 280 2 0.70922 262 95 26.6106 PHKA1 0 genome.wustl.edu 37 X 71846871 71846871 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 71846871 71846871 A G SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known silent c.1743 p.S581 0.999 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 120 0 0 123 44 26.3473 XIST 0 genome.wustl.edu 37 X 73042059 73042059 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 73042059 73042059 A G SNP XIST ENST00000417942 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 33 0 0 35 9 20.4545 XIST 0 genome.wustl.edu 37 X 73043716 73043716 + RNA SNP T T A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 73043716 73043716 T A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 79 0 0 46 49 51.5789 XIST 0 genome.wustl.edu 37 X 73045008 73045008 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 73045008 73045008 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 16 0 0 11 19 63.3333 XIST 0 genome.wustl.edu 37 X 73071282 73071282 + RNA SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 73071282 73071282 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 154 1 0.645161 154 37 19.3717 PGAM4 0 genome.wustl.edu 37 X 77224557 77224557 + Silent SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 77224557 77224557 A G SNP PGAM4 ENST00000458128 human ensembl 74_37 -1 known silent c.579 p.I193 1.000 smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM4 HGNC ENSG00000226784 171 0 0 119 41 25.625 P2RY10 0 genome.wustl.edu 37 X 78216198 78216198 + Missense_Mutation SNP C C T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 78216198 78216198 C T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.181 p.R61C 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 167 0 0 88 90 50.5618 PNPLA4 0 genome.wustl.edu 37 X 7889822 7889822 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 7889822 7889822 T C SNP PNPLA4 ENST00000381042 human ensembl 74_37 -1 known missense c.343 p.I115V 0.997 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 64 0 0 109 9 7.62712 POU3F4 0 genome.wustl.edu 37 X 82764004 82764004 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 82764004 82764004 T C SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known silent c.672 p.G224 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 50 0 0 45 23 33.8235 HDX 0 genome.wustl.edu 37 X 83723662 83723662 + Missense_Mutation SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 83723662 83723662 T C SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.1069 p.I357V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 81 0 0 100 9 8.25688 SATL1 0 genome.wustl.edu 37 X 84362428 84362428 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 84362428 84362428 A G SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.1547 p.V516A 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 90 0 0 37 48 56.4706 CHM 0 genome.wustl.edu 37 X 85119781 85119781 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 85119781 85119781 G A SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.1816 p.P606S 1.000 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 45 0 0 9 19 67.8571 KAL1 0 genome.wustl.edu 37 X 8538577 8538577 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 8538577 8538577 A G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1025 p.V342A 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 50 0 0 33 10 23.2558 DACH2 0 genome.wustl.edu 37 X 85403701 85403701 + Missense_Mutation SNP A A G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 85403701 85403701 A G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.77 p.E26G 0.914 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 20 0 0 9 11 55 SHROOM2 0 genome.wustl.edu 37 X 9863553 9863553 + Silent SNP T T C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 9863553 9863553 T C SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.1605 p.C535 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 12 0 0 5 5 50 SRPX2 0 genome.wustl.edu 37 X 99920261 99920261 + Missense_Mutation SNP G G A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 99920261 99920261 G A SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known missense c.554 p.R185H 0.976 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 17 0 0 15 6 28.5714 AGL 0 genome.wustl.edu 37 1 100378028 100378028 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100378028 100378028 A - DEL AGL ENST00000294724 human ensembl 74_37 +1 known frame_shift_del c.3904 p.N1304fs 0.023 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 162 0 0 113 20 15.0376 HIAT1 0 genome.wustl.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100534122 100534122 T - DEL HIAT1 ENST00000370152 human ensembl 74_37 +1 known frame_shift_del c.799 p.L269fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 256 0 0 149 19 11.3095 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100588802 100588802 A - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 105 0 0 90 20 18.1818 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 266 0 0 166 24 12.6316 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 170 1 0.584795 117 25 17.6056 RBM15 0 genome.wustl.edu 37 1 110888167 110888168 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 110888167 110888168 - T INS RBM15 ENST00000369784 human ensembl 74_37 +1 known frame_shift_ins c.2870_2871 p.Q959fs 0.881:0.966 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 427 0 0 258 58 18.3544 SLC16A1 0 genome.wustl.edu 37 1 113471890 113471890 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 113471890 113471890 G - DEL SLC16A1 ENST00000369626 human ensembl 74_37 -1 known frame_shift_del c.41 p.P14fs 1.000 tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 103 0 0 96 14 12.7273 SYCP1 0 genome.wustl.edu 37 1 115454180 115454180 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 115454180 115454180 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.1506 p.T504fs 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 102 0 0 57 6 9.52381 CD58 0 genome.wustl.edu 37 1 117078661 117078662 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117078661 117078662 - T INS CD58 ENST00000369489 human ensembl 74_37 -1 known frame_shift_ins c.554_553 p.I185fs 0.001:0.000 NULL NULL - no_errors CD58 HGNC ENSG00000116815 173 0 0 164 32 16.3265 TRIM45 0 genome.wustl.edu 37 1 117663624 117663624 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 117663624 117663624 C - DEL TRIM45 ENST00000256649 human ensembl 74_37 -1 known frame_shift_del c.200 p.G67fs 0.996 smart_Znf_RING,pfscan_Znf_RING pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 113 0 0 95 16 14.4144 PRDM2 0 genome.wustl.edu 37 1 14108560 14108560 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 14108560 14108560 A - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.4270 p.N1426fs 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 245 0 0 166 36 17.8218 PRDM2 0 genome.wustl.edu 37 1 14108749 14108750 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 14108749 14108750 AA - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.4459_4460 p.K1489fs 1.000:1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 494 0 0 307 71 18.7831 ADAMTSL4 0 genome.wustl.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150530506 150530506 G - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.2332 p.G780fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 117 0 0 115 13 10.1562 SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 38 0 0 34 6 15 TCHH 0 genome.wustl.edu 37 1 152082769 152082769 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 152082769 152082769 C - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_del c.2924 p.G975fs 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 426 0 0 229 74 24.4224 ISG20L2 0 genome.wustl.edu 37 1 156694105 156694105 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156694105 156694105 C - DEL ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_del c.783 p.H262fs 0.060 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 93 0 0 83 15 15.3061 INSRR 0 genome.wustl.edu 37 1 156814367 156814367 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156814367 156814367 C - DEL INSRR ENST00000368195 human ensembl 74_37 -1 known frame_shift_del c.2624 p.G875fs 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 48 0 0 45 13 22.4138 ARHGEF11 0 genome.wustl.edu 37 1 156914828 156914828 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 156914828 156914828 G - DEL ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known frame_shift_del c.2974 p.L992fs 0.089 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 370 0 0 269 43 13.7821 FCRL3 0 genome.wustl.edu 37 1 157666960 157666960 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 157666960 157666960 T - DEL FCRL3 ENST00000492769 human ensembl 74_37 -1 known frame_shift_del c.814 p.R272fs 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 132 0 0 107 18 14.4 CD5L 0 genome.wustl.edu 37 1 157805670 157805672 + In_Frame_Del DEL CTT CTT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 157805670 157805672 CTT - DEL CD5L ENST00000368174 human ensembl 74_37 -1 known in_frame_del c.331_329 p.E110in_frame_del 0.012:0.000:0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 393 0 0 279 51 15.4545 OR6K6 0 genome.wustl.edu 37 1 158725437 158725437 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 158725437 158725437 T - DEL OR6K6 ENST00000368144 human ensembl 74_37 +1 known frame_shift_del c.832 p.F279fs 0.920 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 210 0 0 158 39 19.797 SLAMF8 0 genome.wustl.edu 37 1 159799703 159799703 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 159799703 159799703 G - DEL SLAMF8 ENST00000289707 human ensembl 74_37 +1 known frame_shift_del c.88 p.G31fs 0.866 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 267 0 0 192 39 16.8831 EPHA2 0 genome.wustl.edu 37 1 16462199 16462199 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 16462199 16462199 G - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.1379 p.P460fs 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 99 0 0 85 7 7.6087 NADK 0 genome.wustl.edu 37 1 1685539 1685540 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 1685539 1685540 - G INS NADK ENST00000344463 human ensembl 74_37 -1 known frame_shift_ins c.1487_1486 p.H496fs 1.000:1.000 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 126 0 0 95 15 13.6364 FMO3 0 genome.wustl.edu 37 1 171080111 171080111 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 171080111 171080111 A - DEL FMO3 ENST00000367755 human ensembl 74_37 +1 known frame_shift_del c.800 p.N268fs 0.995 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 222 0 0 154 34 18.0851 CEP350 0 genome.wustl.edu 37 1 180064806 180064806 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 180064806 180064806 A - DEL CEP350 ENST00000367607 human ensembl 74_37 +1 known frame_shift_del c.8660 p.N2889fs 0.152 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 116 0 0 68 25 26.8817 DHX9 0 genome.wustl.edu 37 1 182835644 182835644 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 182835644 182835644 A - DEL DHX9 ENST00000367549 human ensembl 74_37 +1 known frame_shift_del c.1398 p.S468fs 0.943 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 362 0 0 322 19 5.57185 PDC 0 genome.wustl.edu 37 1 186413212 186413213 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 186413212 186413213 - A INS PDC ENST00000340129 human ensembl 74_37 -1 known frame_shift_ins c.640_639 p.A213fs 1.000:1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDC HGNC ENSG00000116703 299 0 0 198 40 16.8067 RGS2 0 genome.wustl.edu 37 1 192780688 192780688 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 192780688 192780688 A - DEL RGS2 ENST00000235382 human ensembl 74_37 +1 known frame_shift_del c.598 p.K201fs 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS2 HGNC ENSG00000116741 346 0 0 297 19 6.01266 CAMSAP2 0 genome.wustl.edu 37 1 200827020 200827020 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 200827020 200827020 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.4303 p.M1437fs 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 210 0 0 141 41 22.5275 CACNA1S 0 genome.wustl.edu 37 1 201019592 201019593 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 201019592 201019593 - G INS CACNA1S ENST00000362061 human ensembl 74_37 -1 known frame_shift_ins c.4166_4165 p.R1389fs 1.000:0.999 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 128 0 0 82 12 12.766 CR1L 0 genome.wustl.edu 37 1 207850873 207850873 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 207850873 207850873 A - DEL CR1L ENST00000508064 human ensembl 74_37 +1 known frame_shift_del c.237 p.N81fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 328 0 0 230 41 15.1292 NSL1 0 genome.wustl.edu 37 1 212911845 212911845 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 212911845 212911845 T - DEL NSL1 ENST00000366977 human ensembl 74_37 -1 known frame_shift_del c.751 p.T251fs 0.007 NULL pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 404 0 0 297 60 16.8067 CENPF 0 genome.wustl.edu 37 1 214818826 214818826 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 214818826 214818826 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.5913 p.T1974fs 0.005 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 112 0 0 117 11 8.59375 SUSD4 0 genome.wustl.edu 37 1 223437982 223437982 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 223437982 223437982 A - DEL SUSD4 ENST00000343846 human ensembl 74_37 -1 known frame_shift_del c.714 p.A239fs 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 246 0 0 165 24 12.6984 ZNF124 0 genome.wustl.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 247319909 247319909 T - DEL ZNF124 ENST00000543802 human ensembl 74_37 -1 known frame_shift_del c.1015 p.T339fs 0.935 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF124 HGNC ENSG00000196418 162 0 0 125 29 18.8312 SH3BGRL3 0 genome.wustl.edu 37 1 26607440 26607440 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 26607440 26607440 G - DEL SH3BGRL3 ENST00000319041 human ensembl 74_37 +1 known frame_shift_del c.233 p.G80fs 0.000 NULL pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL3 HGNC ENSG00000142669 17 0 0 12 3 20 ARID1A 0 genome.wustl.edu 37 1 27057924 27057924 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 27057924 27057924 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.1632 p.Q546fs 0.992 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 324 0 0 209 35 14.3443 SPOCD1 0 genome.wustl.edu 37 1 32256573 32256573 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 32256573 32256573 C - DEL SPOCD1 ENST00000360482 human ensembl 74_37 -1 known frame_shift_del c.3282 p.R1095fs 0.909 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 48 0 0 30 7 18.9189 KIAA1522 0 genome.wustl.edu 37 1 33233495 33233495 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 33233495 33233495 C - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.343 p.H117fs 0.980 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 145 0 0 113 15 11.7188 CSMD2 0 genome.wustl.edu 37 1 34128586 34128586 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 34128586 34128586 G - DEL CSMD2 ENST00000373381 human ensembl 74_37 -1 known frame_shift_del c.4159 p.L1387fs 0.520 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 185 0 0 101 20 16.5289 DLGAP3 0 genome.wustl.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35365852 35365852 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.1130 p.G377fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 194 0 0 155 18 10.4046 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35484912 35484912 A - DEL ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_del c.470 p.L157fs 0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 158 0 0 104 22 17.4603 SFPQ 0 genome.wustl.edu 37 1 35657105 35657106 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35657105 35657106 AA - DEL SFPQ ENST00000357214 human ensembl 74_37 -1 known frame_shift_del c.854_853 p.L285fs 1.000:0.540 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 153 0 0 114 23 16.7883 ZMYM4 0 genome.wustl.edu 37 1 35836080 35836080 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 35836080 35836080 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1033 p.I347fs 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 145 0 0 112 20 15.1515 CCDC27 0 genome.wustl.edu 37 1 3688025 3688025 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 3688025 3688025 C - DEL CCDC27 ENST00000294600 human ensembl 74_37 +1 known frame_shift_del c.1909 p.L639fs 0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 150 0 0 102 18 15 GNL2 0 genome.wustl.edu 37 1 38056409 38056409 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 38056409 38056409 T - DEL GNL2 ENST00000373062 human ensembl 74_37 -1 known frame_shift_del c.282 p.K94fs 0.995 pfam_NOG2_N_dom pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 164 0 0 139 25 15.2439 MACF1 0 genome.wustl.edu 37 1 39951359 39951359 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 39951359 39951359 G - DEL MACF1 ENST00000317713 human ensembl 74_37 +1 known frame_shift_del c.16186 p.G5397fs 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 175 0 0 130 20 13.3333 COL9A2 0 genome.wustl.edu 37 1 40773421 40773421 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 40773421 40773421 G - DEL COL9A2 ENST00000372748 human ensembl 74_37 -1 known frame_shift_del c.908 p.P303fs 1.000 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 59 0 0 46 7 13.2075 HIVEP3 0 genome.wustl.edu 37 1 42048868 42048868 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 42048868 42048868 G - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_del c.1601 p.P534fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 105 0 0 74 10 11.9048 SLC6A9 0 genome.wustl.edu 37 1 44467092 44467094 + In_Frame_Del DEL GAA GAA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 44467092 44467094 GAA - DEL SLC6A9 ENST00000360584 human ensembl 74_37 -1 known in_frame_del c.1389_1387 p.F463in_frame_del 1.000:1.000:1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 134 0 0 95 12 11.215 PLK3 0 genome.wustl.edu 37 1 45270026 45270026 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 45270026 45270026 C - DEL PLK3 ENST00000372201 human ensembl 74_37 +1 known frame_shift_del c.1358 p.L455fs 0.985 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 206 0 0 162 17 9.49721 IPP 0 genome.wustl.edu 37 1 46206587 46206587 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 46206587 46206587 A - DEL IPP ENST00000396478 human ensembl 74_37 -1 known frame_shift_del c.710 p.L237fs 0.994 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 173 0 0 116 25 17.7305 LRRC41 0 genome.wustl.edu 37 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 46752129 46752129 A - DEL LRRC41 ENST00000343304 human ensembl 74_37 -1 known frame_shift_del c.400 p.S134fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 129 0 0 85 11 11.4583 CHD5 0 genome.wustl.edu 37 1 6196693 6196693 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6196693 6196693 A - DEL CHD5 ENST00000262450 human ensembl 74_37 -1 known frame_shift_del c.2580 p.F860fs 0.996 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 126 0 0 99 12 10.8108 CACHD1 0 genome.wustl.edu 37 1 65157117 65157117 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 65157117 65157117 C - DEL CACHD1 ENST00000371073 human ensembl 74_37 +1 known frame_shift_del c.3698 p.P1235fs 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 185 0 0 155 30 16.2162 TAS1R1 0 genome.wustl.edu 37 1 6636476 6636476 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 6636476 6636476 T - DEL TAS1R1 ENST00000333172 human ensembl 74_37 +1 known frame_shift_del c.1262 p.L422fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 300 0 0 214 46 17.6923 C1orf173 0 genome.wustl.edu 37 1 75072466 75072467 + Frame_Shift_Del DEL CT CT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 75072466 75072467 CT - DEL C1orf173 ENST00000326665 human ensembl 74_37 -1 known frame_shift_del c.1308_1307 p.E436fs 0.000:0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 494 0 0 343 41 10.6771 TNFRSF9 0 genome.wustl.edu 37 1 7998254 7998254 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 7998254 7998254 T - DEL TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.019 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 263 0 0 159 61 27.7273 ERRFI1 0 genome.wustl.edu 37 1 8074255 8074255 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 8074255 8074255 T - DEL ERRFI1 ENST00000377482 human ensembl 74_37 -1 known frame_shift_del c.404 p.N135fs 0.000 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 271 0 0 196 35 15.1515 CDC7 0 genome.wustl.edu 37 1 91977476 91977476 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 91977476 91977476 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.568 p.K191fs 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 124 0 0 85 15 15 EVI5 0 genome.wustl.edu 37 1 93159366 93159366 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 1 93159366 93159366 T - DEL EVI5 ENST00000543509 human ensembl 74_37 -1 known frame_shift_del c.1222 p.M408fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 229 0 0 140 44 23.913 CHUK 0 genome.wustl.edu 37 10 101969415 101969417 + In_Frame_Del DEL AAG AAG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 101969415 101969417 AAG - DEL CHUK ENST00000370397 human ensembl 74_37 -1 known in_frame_del c.1065_1063 p.L355in_frame_del 1.000:1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 112 0 0 72 11 13.253 NOLC1 0 genome.wustl.edu 37 10 103919298 103919299 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 103919298 103919299 - A INS NOLC1 ENST00000405356 human ensembl 74_37 +1 known frame_shift_ins c.862_863 p.P291fs 0.954:0.998 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 92 0 0 66 17 20.4819 IDI2 0 genome.wustl.edu 37 10 1065556 1065556 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 1065556 1065556 G - DEL IDI2 ENST00000277517 human ensembl 74_37 -1 known frame_shift_del c.585 p.W196fs 0.390 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC ENSG00000148377 82 0 0 56 15 21.1268 SORCS1 0 genome.wustl.edu 37 10 108434854 108434854 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 108434854 108434854 A - DEL SORCS1 ENST00000344440 human ensembl 74_37 -1 known frame_shift_del c.1893 p.F631fs 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 233 0 0 141 27 16.0714 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 163 0 0 96 38 28.3582 BTBD16 0 genome.wustl.edu 37 10 124066813 124066813 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 124066813 124066813 T - DEL BTBD16 ENST00000368994 human ensembl 74_37 +1 known frame_shift_del c.904 p.F303fs 0.904 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 229 1 0.434783 160 38 19.1919 ZRANB1 0 genome.wustl.edu 37 10 126660638 126660638 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 126660638 126660638 T - DEL ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_del c.1107 p.F370fs 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 303 0 0 260 37 12.4579 MKI67 0 genome.wustl.edu 37 10 129913250 129913250 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 129913250 129913250 C - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.1422 p.M474fs 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 359 0 0 226 53 18.9964 EBF3 0 genome.wustl.edu 37 10 131666125 131666125 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 131666125 131666125 C - DEL EBF3 ENST00000355311 human ensembl 74_37 -1 known frame_shift_del c.833 p.G278fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 75 0 0 69 11 13.75 PWWP2B 0 genome.wustl.edu 37 10 134218255 134218255 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 134218255 134218255 C - DEL PWWP2B ENST00000305233 human ensembl 74_37 +1 known frame_shift_del c.251 p.P86fs 0.183 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 58 0 0 44 9 16.9811 TUBGCP2 0 genome.wustl.edu 37 10 135111565 135111566 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 135111565 135111566 - T INS TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known frame_shift_ins c.507_506 p.N169fs 0.150:0.998 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 155 0 0 121 21 14.7887 FRMD4A 0 genome.wustl.edu 37 10 13696452 13696452 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 13696452 13696452 G - DEL FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_del c.3014 p.P1005fs 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 163 0 0 115 15 11.5385 MLLT10 0 genome.wustl.edu 37 10 21962452 21962452 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 21962452 21962452 G - DEL MLLT10 ENST00000307729 human ensembl 74_37 +1 known frame_shift_del c.1225 p.V411fs 0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 476 0 0 380 60 13.6364 DNAJC1 0 genome.wustl.edu 37 10 22208818 22208818 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 22208818 22208818 T - DEL DNAJC1 ENST00000376980 human ensembl 74_37 -1 known frame_shift_del c.578 p.K193fs 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 347 0 0 235 39 14.2336 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 49 0 0 33 10 23.2558 ARHGAP12 0 genome.wustl.edu 37 10 32101709 32101710 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 32101709 32101710 - T INS ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known frame_shift_ins c.1877_1876 p.T626fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 224 0 0 113 25 18.1159 PARD3 0 genome.wustl.edu 37 10 34671501 34671501 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 34671501 34671501 T - DEL PARD3 ENST00000374789 human ensembl 74_37 -1 known frame_shift_del c.1366 p.I456fs 0.956 superfamily_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 251 0 0 181 24 11.7073 ENSG00000241125 0 genome.wustl.edu 37 10 38466932 38466932 + RNA DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 38466932 38466932 A - DEL ENSG00000241125 ENST00000419779 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-508N22.9 Clone_based_vega_gene ENSG00000241125 32 0 0 24 9 27.2727 BICC1 0 genome.wustl.edu 37 10 60546761 60546761 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 60546761 60546761 A - DEL BICC1 ENST00000373886 human ensembl 74_37 +1 known frame_shift_del c.466 p.V158fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 123 0 0 86 22 20.3704 C10orf107 0 genome.wustl.edu 37 10 63519909 63519910 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 63519909 63519910 - C INS C10orf107 ENST00000330194 human ensembl 74_37 +1 known frame_shift_ins c.381_382 p.T129fs 0.881:0.884 NULL NULL - no_errors C10orf107 HGNC ENSG00000183346 141 0 0 128 19 12.9252 RTKN2 0 genome.wustl.edu 37 10 63999501 63999501 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 63999501 63999501 A - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.394 p.C132fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 48 0 0 41 11 21.1538 DNA2 0 genome.wustl.edu 37 10 70182521 70182522 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70182521 70182522 AA - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593_2592 p.S865fs 1.000:1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 61 0 0 46 9 16.3636 CCAR1 0 genome.wustl.edu 37 10 70531074 70531074 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70531074 70531074 A - DEL CCAR1 ENST00000265872 human ensembl 74_37 +1 known frame_shift_del c.2410 p.S806fs 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 96 0 0 84 21 20 KIAA1279 0 genome.wustl.edu 37 10 70775815 70775815 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 70775815 70775815 A - DEL KIAA1279 ENST00000361983 human ensembl 74_37 +1 known frame_shift_del c.1509 p.I506fs 0.024 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 120 0 0 107 20 15.748 HKDC1 0 genome.wustl.edu 37 10 71003028 71003028 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 71003028 71003028 G - DEL HKDC1 ENST00000354624 human ensembl 74_37 +1 known frame_shift_del c.782 p.A263fs 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 181 0 0 132 24 15.3846 ADAMTS14 0 genome.wustl.edu 37 10 72520490 72520490 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 72520490 72520490 G - DEL ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known frame_shift_del c.3562 p.L1190fs 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 102 0 0 82 9 9.89011 NDST2 0 genome.wustl.edu 37 10 75563406 75563406 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 75563406 75563406 C - DEL NDST2 ENST00000309979 human ensembl 74_37 -1 known frame_shift_del c.2068 p.A690fs 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 223 0 0 142 17 10.6918 SFTPD 0 genome.wustl.edu 37 10 81706245 81706246 + Frame_Shift_Del DEL CT CT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 81706245 81706246 CT - DEL SFTPD ENST00000372292 human ensembl 74_37 -1 known frame_shift_del c.171_170 p.E57fs 0.839:0.998 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 80 0 0 52 9 14.7541 WAPAL 0 genome.wustl.edu 37 10 88259565 88259565 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 88259565 88259565 T - DEL WAPAL ENST00000298767 human ensembl 74_37 -1 known frame_shift_del c.1435 p.R479fs 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 217 0 0 188 36 16.0714 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 183 0 0 79 50 38.7597 SLC16A12 0 genome.wustl.edu 37 10 91203598 91203598 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 91203598 91203598 A - DEL SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_del c.219 p.F73fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 103 0 0 71 16 18.3908 IDE 0 genome.wustl.edu 37 10 94243045 94243045 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 94243045 94243045 A - DEL IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_del c.1706 p.L569fs 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 60 0 0 56 8 12.5 FFAR4 0 genome.wustl.edu 37 10 95347278 95347278 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 95347278 95347278 T - DEL FFAR4 ENST00000371483 human ensembl 74_37 +1 known frame_shift_del c.1046 p.C351fs 0.006 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors FFAR4 HGNC ENSG00000186188 351 0 0 240 50 17.2414 PDE6C 0 genome.wustl.edu 37 10 95399929 95399929 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 95399929 95399929 T - DEL PDE6C ENST00000371447 human ensembl 74_37 +1 known frame_shift_del c.1585 p.F530fs 0.997 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 294 0 0 213 47 18.0769 PIPSL 0 genome.wustl.edu 37 10 95718422 95718422 + RNA DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 95718422 95718422 T - DEL PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.177 - - - no_errors PIPSL HGNC ENSG00000180764 11 0 0 4 3 42.8571 HELLS 0 genome.wustl.edu 37 10 96352051 96352051 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 10 96352051 96352051 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.1971 p.R660fs 0.958 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 136 0 0 99 10 9.17431 MMP3 0 genome.wustl.edu 37 11 102713563 102713563 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 102713563 102713563 T - DEL MMP3 ENST00000299855 human ensembl 74_37 -1 known frame_shift_del c.190 p.I64fs 0.965 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 90 0 0 61 13 17.5676 GRIA4 0 genome.wustl.edu 37 11 105732822 105732822 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 105732822 105732822 A - DEL GRIA4 ENST00000282499 human ensembl 74_37 +1 known frame_shift_del c.560 p.N188fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 184 0 0 118 27 18.6207 ALKBH8 0 genome.wustl.edu 37 11 107431569 107431571 + In_Frame_Del DEL CTT CTT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 107431569 107431571 CTT - DEL ALKBH8 ENST00000417449 human ensembl 74_37 -1 known in_frame_del c.60_58 p.K20in_frame_del 0.173:0.999:1.000 pfam_AlkB_hom8_N pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 97 0 0 87 10 10.3093 EXPH5 0 genome.wustl.edu 37 11 108381751 108381751 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 108381751 108381751 T - DEL EXPH5 ENST00000265843 human ensembl 74_37 -1 known frame_shift_del c.4483 p.M1495fs 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 109 0 0 76 16 17.3913 C11orf88 0 genome.wustl.edu 37 11 111385565 111385566 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 111385565 111385566 - C INS C11orf88 ENST00000529167 human ensembl 74_37 +1 known frame_shift_ins c.56_57 p.G23fs 0.000:0.000 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 112 0 0 86 12 12.2449 TREH 0 genome.wustl.edu 37 11 118529408 118529408 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118529408 118529408 C - DEL TREH ENST00000264029 human ensembl 74_37 -1 known frame_shift_del c.1580 p.G527fs 1.000 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 - no_errors TREH HGNC ENSG00000118094 17 0 0 8 6 42.8571 DDX6 0 genome.wustl.edu 37 11 118630686 118630686 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118630686 118630686 T - DEL DDX6 ENST00000264018 human ensembl 74_37 -1 known frame_shift_del c.809 p.N270fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX6 HGNC ENSG00000110367 108 0 0 79 19 19.3878 BCL9L 0 genome.wustl.edu 37 11 118769574 118769574 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118769574 118769574 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.4050 p.K1351fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 147 0 0 105 28 21.0526 BCL9L 0 genome.wustl.edu 37 11 118772974 118772974 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 118772974 118772974 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.1478 p.P493fs 0.944 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 241 0 0 154 24 13.4831 CCDC153 0 genome.wustl.edu 37 11 119061043 119061043 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 119061043 119061043 G - DEL CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_del c.599 p.P200fs 1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 176 0 0 127 17 11.8056 OR8D2 0 genome.wustl.edu 37 11 124189338 124189338 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 124189338 124189338 A - DEL OR8D2 ENST00000357438 human ensembl 74_37 -1 known frame_shift_del c.756 p.F252fs 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 309 0 0 217 40 15.5642 TMEM218 0 genome.wustl.edu 37 11 124967560 124967562 + In_Frame_Del DEL AAG AAG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 124967560 124967562 AAG - DEL TMEM218 ENST00000455225 human ensembl 74_37 -1 known in_frame_del c.290_288 p.F96in_frame_del 1.000:0.993:0.996 NULL NULL - no_errors TMEM218 HGNC ENSG00000150433 84 0 0 56 13 18.8406 MUC5B 0 genome.wustl.edu 37 11 1269737 1269737 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 1269737 1269737 C - DEL MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_del c.11636 p.S3881fs 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 99 0 0 73 6 7.59494 TNNT3 0 genome.wustl.edu 37 11 1955030 1955032 + In_Frame_Del DEL AGG AGG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 1955030 1955032 AGG - DEL TNNT3 ENST00000397301 human ensembl 74_37 +1 known in_frame_del c.284_286 p.E99in_frame_del 1.000:1.000:1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 138 0 0 100 10 9.09091 CCDC34 0 genome.wustl.edu 37 11 27384534 27384534 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 27384534 27384534 G - DEL CCDC34 ENST00000328697 human ensembl 74_37 -1 known frame_shift_del c.208 p.G71fs 0.516 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 209 0 0 134 14 9.45946 OSBPL5 0 genome.wustl.edu 37 11 3141800 3141800 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 3141800 3141800 C - DEL OSBPL5 ENST00000263650 human ensembl 74_37 -1 known frame_shift_del c.457 p.V153fs 0.980 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 132 0 0 73 18 19.7802 FBXO3 0 genome.wustl.edu 37 11 33763456 33763456 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 33763456 33763456 A - DEL FBXO3 ENST00000265651 human ensembl 74_37 -1 known frame_shift_del c.1414 p.*472fs 0.960 NULL pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 113 0 0 65 19 22.619 ZNF195 0 genome.wustl.edu 37 11 3381419 3381419 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 3381419 3381419 T - DEL ZNF195 ENST00000399602 human ensembl 74_37 -1 known frame_shift_del c.819 p.K273fs 0.025 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ENSG00000005801 268 0 0 169 35 17.1569 ABTB2 0 genome.wustl.edu 37 11 34180846 34180846 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 34180846 34180846 A - DEL ABTB2 ENST00000435224 human ensembl 74_37 -1 known frame_shift_del c.2694 p.Q899fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 71 0 0 56 11 16.4179 B4GALNT4 0 genome.wustl.edu 37 11 375700 375700 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 375700 375700 G - DEL B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_del c.912 p.R307fs 0.021 NULL pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 37 0 0 34 5 12.8205 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 209 0 0 152 27 15.0838 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 87 0 0 57 13 18.5714 OR5F1 0 genome.wustl.edu 37 11 55761672 55761672 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 55761672 55761672 T - DEL OR5F1 ENST00000278409 human ensembl 74_37 -1 known frame_shift_del c.430 p.M144fs 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 99 0 0 65 11 14.4737 OR5T3 0 genome.wustl.edu 37 11 56020656 56020656 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 56020656 56020656 A - DEL OR5T3 ENST00000303059 human ensembl 74_37 +1 known frame_shift_del c.981 p.K329fs 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 106 0 0 90 12 11.7647 OR5AK2 0 genome.wustl.edu 37 11 56756569 56756569 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 56756569 56756569 T - DEL OR5AK2 ENST00000326855 human ensembl 74_37 +1 known frame_shift_del c.181 p.L63fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AK2 HGNC ENSG00000181273 294 0 0 194 43 18.1435 TNKS1BP1 0 genome.wustl.edu 37 11 57077118 57077119 + Frame_Shift_Del DEL CT CT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57077118 57077119 CT - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.3067_3066 p.G1023fs 0.000:0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 145 0 0 105 14 11.7647 TNKS1BP1 0 genome.wustl.edu 37 11 57077573 57077574 + Frame_Shift_Del DEL TC TC - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 57077573 57077574 TC - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.2612_2611 p.D871fs 0.862:0.937 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 324 0 0 238 47 16.4912 OR5B2 0 genome.wustl.edu 37 11 58190571 58190572 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 58190571 58190572 - A INS OR5B2 ENST00000302581 human ensembl 74_37 -1 known frame_shift_ins c.164_163 p.T55fs 0.521:0.619 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 188 0 0 132 13 8.96552 EML3 0 genome.wustl.edu 37 11 62378802 62378802 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62378802 62378802 G - DEL EML3 ENST00000529309 human ensembl 74_37 -1 known frame_shift_del c.209 p.P70fs 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 77 0 0 64 8 11.1111 NXF1 0 genome.wustl.edu 37 11 62567805 62567805 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62567805 62567805 G - DEL NXF1 ENST00000439713 human ensembl 74_37 -1 known frame_shift_del c.1060 p.L354fs 1.000 NULL pfam_Tap_RNA-bd,pfam_Leu-rich_rpt - no_errors NXF1 HGNC ENSG00000162231 66 0 0 38 13 25.4902 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 140 0 0 125 24 16.1074 DCHS1 0 genome.wustl.edu 37 11 6648358 6648359 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6648358 6648359 - G INS DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_ins c.5912_5911 p.R1971fs 1.000:0.998 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 93 0 0 74 11 12.9412 CORO1B 0 genome.wustl.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 67209168 67209168 G - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490 p.H164fs 0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 14 0 0 6 7 53.8462 OR2D3 0 genome.wustl.edu 37 11 6942864 6942864 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 6942864 6942864 C - DEL OR2D3 ENST00000317834 human ensembl 74_37 +1 known frame_shift_del c.632 p.T211fs 0.530 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 138 0 0 81 14 14.7368 SHANK2 0 genome.wustl.edu 37 11 70331959 70331959 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 70331959 70331959 G - DEL SHANK2 ENST00000338508 human ensembl 74_37 -1 known frame_shift_del c.4442 p.P1481fs 0.999 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 84 0 0 65 17 20.7317 PDE2A 0 genome.wustl.edu 37 11 72294542 72294542 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 72294542 72294542 T - DEL PDE2A ENST00000334456 human ensembl 74_37 -1 known frame_shift_del c.1668 p.V557fs 0.998 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 112 0 0 79 13 14.1304 ARHGEF17 0 genome.wustl.edu 37 11 73021527 73021527 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 73021527 73021527 C - DEL ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known frame_shift_del c.1844 p.P617fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 113 0 0 75 7 8.53659 UVRAG 0 genome.wustl.edu 37 11 75694431 75694431 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 75694431 75694431 A - DEL UVRAG ENST00000356136 human ensembl 74_37 +1 known frame_shift_del c.700 p.S237fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 78 0 0 54 13 19.403 PCF11 0 genome.wustl.edu 37 11 82877219 82877219 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 82877219 82877219 A - DEL PCF11 ENST00000298281 human ensembl 74_37 +1 known frame_shift_del c.1280 p.K429fs 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 38 0 0 22 10 31.25 FAT3 0 genome.wustl.edu 37 11 92088049 92088049 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92088049 92088049 T - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.2771 p.L926fs 0.997 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 291 0 0 190 40 17.3913 FAT3 0 genome.wustl.edu 37 11 92533399 92533399 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 92533399 92533399 C - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.7220 p.R2409fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 186 0 0 142 25 14.9701 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 82 0 0 61 15 19.7368 TAF1D 0 genome.wustl.edu 37 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 11 93471453 93471453 T - DEL TAF1D ENST00000323981 human ensembl 74_37 -1 known frame_shift_del c.281 p.K94fs 0.000 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 449 0 0 306 36 10.5263 TDG 0 genome.wustl.edu 37 12 104373687 104373688 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 104373687 104373688 - A INS TDG ENST00000392872 human ensembl 74_37 +1 known frame_shift_ins c.245_246 p.S85fs 0.666:0.491 tigrfam_Thymine-DNA_glycosylase pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase - no_errors TDG HGNC ENSG00000139372 105 0 0 67 19 22.093 POLR3B 0 genome.wustl.edu 37 12 106773822 106773822 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 106773822 106773822 A - DEL POLR3B ENST00000228347 human ensembl 74_37 +1 known frame_shift_del c.628 p.S212fs 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 101 0 0 80 19 19.1919 BTBD11 0 genome.wustl.edu 37 12 108008872 108008873 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 108008872 108008873 - C INS BTBD11 ENST00000280758 human ensembl 74_37 +1 known frame_shift_ins c.1934_1935 p.E647fs 1.000:1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 86 0 0 60 9 13.0435 KCTD10 0 genome.wustl.edu 37 12 109907347 109907348 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 109907347 109907348 - C INS KCTD10 ENST00000228495 human ensembl 74_37 -1 known frame_shift_ins c.190_189 p.R63fs 1.000:1.000 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 84 0 0 76 16 17.3913 TAS2R50 0 genome.wustl.edu 37 12 11139432 11139432 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 11139432 11139432 A - DEL TAS2R50 ENST00000506868 human ensembl 74_37 -1 known frame_shift_del c.28 p.S10fs 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 125 0 0 111 15 11.9048 ALDH2 0 genome.wustl.edu 37 12 112229927 112229927 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 112229927 112229927 G - DEL ALDH2 ENST00000261733 human ensembl 74_37 +1 known frame_shift_del c.858 p.K289fs 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 124 0 0 87 8 8.42105 GCN1L1 0 genome.wustl.edu 37 12 120582814 120582814 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 120582814 120582814 C - DEL GCN1L1 ENST00000300648 human ensembl 74_37 -1 known frame_shift_del c.5068 p.E1690fs 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 162 0 0 100 22 18.0328 VPS37B 0 genome.wustl.edu 37 12 123351987 123351987 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 123351987 123351987 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.534 p.R179fs 1.000 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 146 0 0 87 26 23.0088 EP400 0 genome.wustl.edu 37 12 132547138 132547139 + In_Frame_Ins INS - - CAG TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 132547138 132547139 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8334_8335 p.2782in_frame_insQ 0.021:0.740 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 21 0 0 19 7 26.9231 PXMP2 0 genome.wustl.edu 37 12 133277870 133277870 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133277870 133277870 G - DEL PXMP2 ENST00000317479 human ensembl 74_37 +1 known frame_shift_del c.434 p.G147fs 0.036 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC ENSG00000176894 199 0 0 135 14 9.39597 CHFR 0 genome.wustl.edu 37 12 133448912 133448913 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 133448912 133448913 - C INS CHFR ENST00000266880 human ensembl 74_37 -1 known frame_shift_ins c.302_301 p.D101fs 1.000:1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 264 0 0 187 53 22.0833 PIK3C2G 0 genome.wustl.edu 37 12 18641389 18641389 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 18641389 18641389 A - DEL PIK3C2G ENST00000538779 human ensembl 74_37 +1 known frame_shift_del c.2511 p.N839fs 0.966 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 61 0 0 50 7 12.2807 PDZRN4 0 genome.wustl.edu 37 12 41967558 41967558 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 41967558 41967558 A - DEL PDZRN4 ENST00000402685 human ensembl 74_37 +1 known frame_shift_del c.2977 p.K994fs 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 68 0 0 43 11 20.3704 PRICKLE1 0 genome.wustl.edu 37 12 42858973 42858974 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 42858973 42858974 AA - DEL PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known frame_shift_del c.863_862 p.L288fs 1.000:0.980 pfam_Znf_LIM,smart_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 134 0 0 81 16 16.4948 RAD51AP1 0 genome.wustl.edu 37 12 4653063 4653063 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 4653063 4653063 A - DEL RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known frame_shift_del c.202 p.R70fs 0.997 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 87 0 0 57 15 20.8333 PRKAG1 0 genome.wustl.edu 37 12 49399309 49399309 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49399309 49399309 A - DEL PRKAG1 ENST00000548065 human ensembl 74_37 -1 known frame_shift_del c.186 p.F62fs 1.000 smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG1 HGNC ENSG00000181929 135 0 0 109 15 12.0968 KMT2D 0 genome.wustl.edu 37 12 49434492 49434492 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 49434492 49434492 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7061 p.P2354fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 64 0 0 36 11 23.4043 STAT2 0 genome.wustl.edu 37 12 56742817 56742817 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 56742817 56742817 G - DEL STAT2 ENST00000314128 human ensembl 74_37 -1 known frame_shift_del c.1467 p.K490fs 0.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 121 0 0 80 17 17.5258 NACA 0 genome.wustl.edu 37 12 57110704 57110704 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57110704 57110704 T - DEL NACA ENST00000454682 human ensembl 74_37 -1 known frame_shift_del c.4610 p.K1537fs 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 106 0 0 91 8 8.08081 LRP1 0 genome.wustl.edu 37 12 57556256 57556256 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57556256 57556256 C - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.2359 p.I789fs 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 147 0 0 113 20 15.0376 LRP1 0 genome.wustl.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 57572242 57572242 G - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.4462 p.E1490fs 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 148 0 0 106 23 17.8295 SPSB2 0 genome.wustl.edu 37 12 6981956 6981956 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 6981956 6981956 G - DEL SPSB2 ENST00000523102 human ensembl 74_37 -1 known frame_shift_del c.110 p.P37fs 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 140 0 0 93 20 17.6991 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 49 0 0 43 10 18.8679 COL4A2 0 genome.wustl.edu 37 13 111156324 111156324 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 111156324 111156324 C - DEL COL4A2 ENST00000360467 human ensembl 74_37 +1 known frame_shift_del c.4269 p.G1426fs 0.956 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 55 0 0 37 4 9.7561 UPF3A 0 genome.wustl.edu 37 13 115057211 115057212 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 115057211 115057212 AA - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790_791 p.K266fs 0.943:0.918 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 55 0 0 50 10 16.6667 TPTE2 0 genome.wustl.edu 37 13 20041393 20041394 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 20041393 20041394 - A INS TPTE2 ENST00000382977 human ensembl 74_37 -1 known frame_shift_ins c.484_483 p.D161fs 0.051:0.027 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 176 0 0 130 27 17.1975 ZMYM5 0 genome.wustl.edu 37 13 20399238 20399239 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 20399238 20399239 - T INS ZMYM5 ENST00000337963 human ensembl 74_37 -1 known frame_shift_ins c.1389_1388 p.E464fs 0.818:0.821 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 62 0 0 53 5 8.62069 MICU2 0 genome.wustl.edu 37 13 22077129 22077129 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 22077129 22077129 A - DEL MICU2 ENST00000382374 human ensembl 74_37 -1 known frame_shift_del c.869 p.F290fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 122 0 0 74 14 15.9091 FLT1 0 genome.wustl.edu 37 13 29012359 29012359 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 29012359 29012359 T - DEL FLT1 ENST00000282397 human ensembl 74_37 -1 known frame_shift_del c.512 p.K171fs 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 140 0 0 113 23 16.9118 AKAP11 0 genome.wustl.edu 37 13 42873774 42873774 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 42873774 42873774 T - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.892 p.S300fs 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 227 0 0 168 43 20.3791 NEK5 0 genome.wustl.edu 37 13 52676262 52676262 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 52676262 52676262 A - DEL NEK5 ENST00000355568 human ensembl 74_37 -1 known frame_shift_del c.776 p.L259fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 338 0 0 237 43 15.3571 PCDH17 0 genome.wustl.edu 37 13 58208421 58208421 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 58208421 58208421 C - DEL PCDH17 ENST00000377918 human ensembl 74_37 +1 known frame_shift_del c.1741 p.P581fs 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 57 0 0 44 12 21.4286 DIS3 0 genome.wustl.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 73337684 73337684 T - DEL DIS3 ENST00000377767 human ensembl 74_37 -1 known frame_shift_del c.2032 p.I678fs 1.000 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 161 0 0 146 34 18.8889 SLITRK1 0 genome.wustl.edu 37 13 84455509 84455509 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 84455509 84455509 T - DEL SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_del c.134 p.K45fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 181 0 0 139 23 14.1975 GPC6 0 genome.wustl.edu 37 13 94938708 94938708 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 13 94938708 94938708 A - DEL GPC6 ENST00000377047 human ensembl 74_37 +1 known frame_shift_del c.983 p.N329fs 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 105 0 0 77 17 18.0851 PPP1R13B 0 genome.wustl.edu 37 14 104206432 104206432 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 104206432 104206432 G - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.2321 p.P774fs 0.035 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 133 0 0 94 23 19.6581 AHNAK2 0 genome.wustl.edu 37 14 105412200 105412200 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105412200 105412200 G - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.9588 p.S3197fs 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 341 0 0 264 50 15.9236 AHNAK2 0 genome.wustl.edu 37 14 105413478 105413478 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105413478 105413478 G - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.8310 p.D2771fs 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 415 0 0 273 52 16 AHNAK2 0 genome.wustl.edu 37 14 105414035 105414035 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 105414035 105414035 G - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.7753 p.Q2585fs 0.120 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 393 0 0 197 30 13.2159 OR6S1 0 genome.wustl.edu 37 14 21109390 21109390 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21109390 21109390 C - DEL OR6S1 ENST00000320704 human ensembl 74_37 -1 known frame_shift_del c.461 p.G154fs 0.805 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6S1 HGNC ENSG00000181803 46 0 0 36 15 29.4118 CHD8 0 genome.wustl.edu 37 14 21870577 21870578 + Frame_Shift_Ins INS - - TC TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 21870577 21870578 - TC INS CHD8 ENST00000399982 human ensembl 74_37 -1 known frame_shift_ins c.3800_3799 p.M1267fs 1.000:1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 138 0 0 90 18 16.6667 STRN3 0 genome.wustl.edu 37 14 31364949 31364949 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 31364949 31364949 T - DEL STRN3 ENST00000357479 human ensembl 74_37 -1 known frame_shift_del c.2143 p.M715fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 70 0 0 58 13 18.3099 NPAS3 0 genome.wustl.edu 37 14 34243648 34243648 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 34243648 34243648 C - DEL NPAS3 ENST00000356141 human ensembl 74_37 +1 known frame_shift_del c.958 p.P321fs 1.000 smart_PAS pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 263 0 0 211 37 14.9194 KIAA0391 0 genome.wustl.edu 37 14 35739731 35739731 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 35739731 35739731 T - DEL KIAA0391 ENST00000534898 human ensembl 74_37 +1 known frame_shift_del c.1549 p.F518fs 1.000 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 127 0 0 103 27 20.7692 FANCM 0 genome.wustl.edu 37 14 45645954 45645955 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 45645954 45645955 - A INS FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_ins c.3997_3998 p.V1336fs 0.003:0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 144 0 0 123 13 9.55882 TXNDC16 0 genome.wustl.edu 37 14 52907343 52907344 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 52907343 52907344 - T INS TXNDC16 ENST00000281741 human ensembl 74_37 -1 known frame_shift_ins c.1942_1941 p.A647fs 0.006:0.014 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 95 0 0 88 17 16.1905 GNPNAT1 0 genome.wustl.edu 37 14 53250196 53250196 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 53250196 53250196 A - DEL GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 0.996 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 154 0 0 112 25 18.2482 KIAA0586 0 genome.wustl.edu 37 14 59014534 59014534 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 59014534 59014534 C - DEL KIAA0586 ENST00000556134 human ensembl 74_37 +1 known frame_shift_del c.4486 p.P1497fs 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 146 0 0 86 11 11.3402 SLC38A6 0 genome.wustl.edu 37 14 61509874 61509874 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 61509874 61509874 A - DEL SLC38A6 ENST00000354886 human ensembl 74_37 +1 known frame_shift_del c.634 p.K213fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 133 0 0 79 16 16.8421 FUT8 0 genome.wustl.edu 37 14 66135985 66135985 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 66135985 66135985 A - DEL FUT8 ENST00000360689 human ensembl 74_37 +1 known frame_shift_del c.622 p.K209fs 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 128 0 0 91 21 18.75 SIPA1L1 0 genome.wustl.edu 37 14 72172041 72172044 + Frame_Shift_Del DEL CAAA CAAA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 72172041 72172044 CAAA - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.3812_3815 p.Q1274fs 1.000:1.000:1.000:1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 321 0 0 199 37 15.678 YLPM1 0 genome.wustl.edu 37 14 75276388 75276389 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 75276388 75276389 - C INS YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_ins c.4827_4828 p.P1611fs 0.998:1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 81 0 0 53 15 22.0588 MLH3 0 genome.wustl.edu 37 14 75514338 75514338 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 75514338 75514338 T - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.2021 p.N674fs 0.001 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 254 0 0 181 50 21.645 FOXN3 0 genome.wustl.edu 37 14 89878533 89878534 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 14 89878533 89878534 - G INS FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_ins c.288_287 p.S97fs 0.006:0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 121 0 0 130 7 5.10949 LOC101927079 0 genome.wustl.edu 37 15 22332505 22332505 + RNA DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 22332505 22332505 T - DEL LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.319 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 528 0 0 396 25 5.93824 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 242 0 0 168 33 16.4179 ARHGAP11B 0 genome.wustl.edu 37 15 30926445 30926445 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 30926445 30926445 T - DEL ARHGAP11B ENST00000428041 human ensembl 74_37 +1 known frame_shift_del c.370 p.F125fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11B HGNC ENSG00000187951 356 0 0 275 25 8.33333 KATNBL1 0 genome.wustl.edu 37 15 34444996 34444996 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 34444996 34444996 A - DEL KATNBL1 ENST00000256544 human ensembl 74_37 -1 known frame_shift_del c.433 p.S145fs 1.000 NULL NULL - no_errors KATNBL1 HGNC ENSG00000134152 170 0 0 127 22 14.7651 UBR1 0 genome.wustl.edu 37 15 43350584 43350584 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43350584 43350584 A - DEL UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_del c.1137 p.F379fs 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 156 0 0 96 23 19.3277 TP53BP1 0 genome.wustl.edu 37 15 43733757 43733757 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 43733757 43733757 T - DEL TP53BP1 ENST00000382044 human ensembl 74_37 -1 known frame_shift_del c.3065 p.N1022fs 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 306 0 0 191 34 15.1111 SPG11 0 genome.wustl.edu 37 15 44907750 44907750 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 44907750 44907750 A - DEL SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_del c.2849 p.L950fs 0.982 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 124 0 0 107 16 13.0081 B2M 0 genome.wustl.edu 37 15 45007737 45007755 + Frame_Shift_Del DEL AATGGAGAGAGAATTGAAA AATGGAGAGAGAATTGAAA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AATGGAGAGAGAATTGAAA AATGGAGAGAGAATTGAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45007737 45007755 AATGGAGAGAGAATTGAAA - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.184_202 p.N62fs 1.000:1.000:0.983:0.985:0.871:0.000:0.000:0.003:0.006:0.007:0.005:0.001:0.005:0.013:0.000:0.000:0.000:0.000:0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 381 0 0 266 18 6.33803 B2M 0 genome.wustl.edu 37 15 45007825 45007825 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 45007825 45007825 C - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.272 p.T93fs 0.591 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 274 0 0 175 30 14.6341 SLC12A1 0 genome.wustl.edu 37 15 48527142 48527143 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 48527142 48527143 - T INS SLC12A1 ENST00000380993 human ensembl 74_37 +1 known frame_shift_ins c.1156_1157 p.P390fs 1.000:1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 200 0 0 142 27 15.9763 RNF111 0 genome.wustl.edu 37 15 59323671 59323672 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 59323671 59323672 - A INS RNF111 ENST00000434298 human ensembl 74_37 +1 known frame_shift_ins c.650_651 p.N219fs 1.000:0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 254 0 0 174 43 19.8157 USP3 0 genome.wustl.edu 37 15 63845976 63845977 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 63845976 63845977 AA - DEL USP3 ENST00000380324 human ensembl 74_37 +1 known frame_shift_del c.347_348 p.E116fs 1.000:1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 136 0 0 105 28 21.0526 NOX5 0 genome.wustl.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 69331226 69331226 T - DEL NOX5 ENST00000388866 human ensembl 74_37 +1 known frame_shift_del c.1401 p.H470fs 0.970 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 328 0 0 240 53 18.0887 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 207 0 0 160 31 16.2304 ALPK3 0 genome.wustl.edu 37 15 85400267 85400267 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 85400267 85400267 A - DEL ALPK3 ENST00000258888 human ensembl 74_37 +1 known frame_shift_del c.2904 p.K970fs 0.859 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 229 0 0 144 33 18.6441 ABHD2 0 genome.wustl.edu 37 15 89694928 89694928 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 15 89694928 89694928 G - DEL ABHD2 ENST00000352732 human ensembl 74_37 +1 known frame_shift_del c.215 p.S75fs 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 314 0 0 217 35 13.8889 IGFALS 0 genome.wustl.edu 37 16 1842147 1842147 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 1842147 1842147 G - DEL IGFALS ENST00000415638 human ensembl 74_37 -1 known frame_shift_del c.386 p.P129fs 0.560 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 15 0 0 15 4 21.0526 TMC5 0 genome.wustl.edu 37 16 19475299 19475299 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 19475299 19475299 A - DEL TMC5 ENST00000396229 human ensembl 74_37 +1 known frame_shift_del c.1438 p.K481fs 0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 94 0 0 82 20 19.6078 EEF2K 0 genome.wustl.edu 37 16 22269862 22269862 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 22269862 22269862 C - DEL EEF2K ENST00000263026 human ensembl 74_37 +1 known frame_shift_del c.1077 p.Q361fs 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 130 0 0 102 14 12.069 TNRC6A 0 genome.wustl.edu 37 16 24802366 24802366 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 24802366 24802366 G - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known frame_shift_del c.2403 p.W804fs 0.988 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 64 0 0 61 8 11.5942 INO80E 0 genome.wustl.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30007665 30007665 A - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.34 p.K14fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 12 0 0 4 2 33.3333 PKMYT1 0 genome.wustl.edu 37 16 3026876 3026876 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 3026876 3026876 G - DEL PKMYT1 ENST00000262300 human ensembl 74_37 -1 known frame_shift_del c.167 p.P56fs 0.995 pirsf_Tyr/Thr_kinase_Cdc2_inhib pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 8 0 0 5 4 44.4444 ITGAL 0 genome.wustl.edu 37 16 30528332 30528333 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30528332 30528333 - A INS ITGAL ENST00000356798 human ensembl 74_37 +1 known frame_shift_ins c.2901_2902 p.T967fs 0.012:0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 408 0 0 311 45 12.6404 SETD1A 0 genome.wustl.edu 37 16 30975497 30975497 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 30975497 30975497 C - DEL SETD1A ENST00000262519 human ensembl 74_37 +1 known frame_shift_del c.722 p.C243fs 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 96 0 0 77 11 12.5 SIAH1 0 genome.wustl.edu 37 16 48396053 48396053 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 48396053 48396053 A - DEL SIAH1 ENST00000356721 human ensembl 74_37 -1 known frame_shift_del c.380 p.F127fs 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_SIAH pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 92 0 0 71 26 26.8041 PPL 0 genome.wustl.edu 37 16 4935386 4935388 + In_Frame_Del DEL CTC CTC - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 4935386 4935388 CTC - DEL PPL ENST00000345988 human ensembl 74_37 -1 known in_frame_del c.3270_3268 p.E1090in_frame_del 1.000:1.000:1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 177 0 0 136 20 12.8205 CDH8 0 genome.wustl.edu 37 16 61851550 61851550 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 61851550 61851550 C - DEL CDH8 ENST00000577390 human ensembl 74_37 -1 known frame_shift_del c.1110 p.F372fs 0.195 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 129 0 0 100 11 9.90991 ZFHX3 0 genome.wustl.edu 37 16 72829585 72829585 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 72829585 72829585 T - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.6996 p.K2332fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 449 0 0 284 66 18.8571 ZFHX3 0 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 72830903 72830904 CT - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.5678_5677 p.R1893fs 0.999:0.991 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 144 0 0 79 24 23.301 FA2H 0 genome.wustl.edu 37 16 74752943 74752943 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 74752943 74752943 G - DEL FA2H ENST00000219368 human ensembl 74_37 -1 known frame_shift_del c.729 p.S244fs 0.840 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 90 0 0 69 12 14.8148 ADAT1 0 genome.wustl.edu 37 16 75651057 75651057 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 75651057 75651057 A - DEL ADAT1 ENST00000307921 human ensembl 74_37 -1 known frame_shift_del c.407 p.F136fs 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 159 0 0 126 24 16 CENPN 0 genome.wustl.edu 37 16 81051432 81051433 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 16 81051432 81051433 - A INS CENPN ENST00000299572 human ensembl 74_37 +1 known frame_shift_ins c.347_348 p.N118fs 1.000:0.999 pfam_Chl4/mis15/CENP-N pfam_Chl4/mis15/CENP-N - no_errors CENPN HGNC ENSG00000166451 90 0 0 62 10 13.8889 SREBF1 0 genome.wustl.edu 37 17 17721094 17721094 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 17721094 17721094 G - DEL SREBF1 ENST00000355815 human ensembl 74_37 -1 known frame_shift_del c.1410 p.L471fs 0.449 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 142 0 0 97 24 19.8347 UBBP4 0 genome.wustl.edu 37 17 21731489 21731489 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 21731489 21731489 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.564 p.D191fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 76 0 0 39 9 18.75 PAFAH1B1 0 genome.wustl.edu 37 17 2579802 2579802 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 2579802 2579802 A - DEL PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known frame_shift_del c.904 p.S304fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 128 0 0 86 20 18.8679 NEK8 0 genome.wustl.edu 37 17 27068996 27068996 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 27068996 27068996 C - DEL NEK8 ENST00000268766 human ensembl 74_37 +1 known frame_shift_del c.2070 p.*693fs 0.001 NULL pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 216 0 0 153 16 9.46746 ATAD5 0 genome.wustl.edu 37 17 29185289 29185289 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 29185289 29185289 A - DEL ATAD5 ENST00000321990 human ensembl 74_37 +1 known frame_shift_del c.2904 p.K970fs 0.332 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 132 0 0 75 13 14.7727 P2RX5 0 genome.wustl.edu 37 17 3583033 3583033 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 3583033 3583033 C - DEL P2RX5 ENST00000435558 human ensembl 74_37 -1 known frame_shift_del c.1110 p.L371fs 0.018 NULL pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 58 0 0 50 7 12.2807 CDK12 0 genome.wustl.edu 37 17 37687472 37687472 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 37687472 37687472 G - DEL CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_del c.4376 p.G1461fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 155 0 0 123 18 12.766 TOP2A 0 genome.wustl.edu 37 17 38573080 38573083 + Frame_Shift_Del DEL ACAG ACAG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 38573080 38573083 ACAG - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.89_86 p.S29fs 1.000:0.979:0.737:1.000 superfamily_HATPase_ATP-bd pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 250 0 0 200 29 12.6638 KRT34 0 genome.wustl.edu 37 17 39538519 39538519 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 39538519 39538519 A - DEL KRT34 ENST00000394001 human ensembl 74_37 -1 known frame_shift_del c.106 p.S36fs 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 141 0 0 97 13 11.8182 CYB5D2 0 genome.wustl.edu 37 17 4053313 4053314 + Frame_Shift_Del DEL TA TA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4053313 4053314 TA - DEL CYB5D2 ENST00000301391 human ensembl 74_37 +1 known frame_shift_del c.379_380 p.Y127fs 1.000:0.998 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D2 HGNC ENSG00000167740 336 0 0 230 40 14.8148 RAMP2 0 genome.wustl.edu 37 17 40914371 40914372 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40914371 40914372 - G INS RAMP2 ENST00000587142 human ensembl 74_37 +1 novel frame_shift_ins c.177_178 p.T61fs 0.997:0.978 NULL pfam_RAMP - no_errors RAMP2 HGNC ENSG00000131477 281 0 0 212 28 11.6667 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 117 0 0 95 14 12.844 WNK4 0 genome.wustl.edu 37 17 40947729 40947730 + Frame_Shift_Ins INS - - CT TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 40947729 40947730 - CT INS WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_ins c.3109_3110 p.G1040fs 0.000:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 115 0 0 67 11 14.1026 EFCAB13 0 genome.wustl.edu 37 17 45451978 45451978 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 45451978 45451978 A - DEL EFCAB13 ENST00000331493 human ensembl 74_37 +1 known frame_shift_del c.1018 p.S342fs 0.000 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 144 0 0 99 28 22.0472 HOXB13 0 genome.wustl.edu 37 17 46805884 46805884 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 46805884 46805884 C - DEL HOXB13 ENST00000290295 human ensembl 74_37 -1 known frame_shift_del c.72 p.R25fs 0.989 pfam_HoxA13_N pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 44 0 0 36 3 7.69231 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 37 0 0 34 2 5.55556 KIF2B 0 genome.wustl.edu 37 17 51902014 51902014 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 51902014 51902014 A - DEL KIF2B ENST00000268919 human ensembl 74_37 +1 known frame_shift_del c.1620 p.K542fs 0.032 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 134 0 0 106 15 12.3967 COX11 0 genome.wustl.edu 37 17 53040138 53040139 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 53040138 53040139 - A INS COX11 ENST00000299335 human ensembl 74_37 -1 known frame_shift_ins c.787_786 p.E262fs 1.000:1.000 pfam_Cyt_c_oxidase_assmbl_CtaG,superfamily_CtaG/Cox11_dom pfam_Cyt_c_oxidase_assmbl_CtaG,superfamily_CtaG/Cox11_dom - no_errors COX11 HGNC ENSG00000166260 184 0 0 124 46 27.0588 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 160 0 0 132 36 21.4286 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 152 0 0 89 20 18.3486 HEATR6 0 genome.wustl.edu 37 17 58143674 58143675 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 58143674 58143675 - T INS HEATR6 ENST00000184956 human ensembl 74_37 -1 known frame_shift_ins c.1312_1311 p.V437fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 111 0 0 81 8 8.98876 BRIP1 0 genome.wustl.edu 37 17 59861749 59861749 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 59861749 59861749 T - DEL BRIP1 ENST00000259008 human ensembl 74_37 -1 known frame_shift_del c.1510 p.I504fs 0.028 superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 463 0 0 290 69 19.2201 EVPL 0 genome.wustl.edu 37 17 74010507 74010509 + In_Frame_Del DEL CTT CTT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74010507 74010509 CTT - DEL EVPL ENST00000301607 human ensembl 74_37 -1 known in_frame_del c.2373_2371 p.K791in_frame_del 1.000:1.000:1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 61 0 0 49 5 9.25926 SENP3 0 genome.wustl.edu 37 17 7467048 7467048 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 7467048 7467048 C - DEL SENP3 ENST00000429205 human ensembl 74_37 +1 known frame_shift_del c.655 p.M221fs 0.992 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 58 0 0 38 5 11.6279 MXRA7 0 genome.wustl.edu 37 17 74684316 74684316 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 74684316 74684316 G - DEL MXRA7 ENST00000592148 human ensembl 74_37 -1 putative frame_shift_del c.414 p.T139fs 0.000 NULL NULL - no_errors MXRA7 HGNC ENSG00000182534 22 0 0 22 9 29.0323 USP36 0 genome.wustl.edu 37 17 76803062 76803062 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 76803062 76803062 T - DEL USP36 ENST00000312010 human ensembl 74_37 -1 known frame_shift_del c.2064 p.K688fs 0.103 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 154 0 0 97 14 12.6126 C17orf70 0 genome.wustl.edu 37 17 79514735 79514735 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 79514735 79514735 G - DEL C17orf70 ENST00000425898 human ensembl 74_37 -1 putative frame_shift_del c.320 p.P107fs 0.000 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 88 0 0 64 11 14.6667 ASPSCR1 0 genome.wustl.edu 37 17 79973078 79973078 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 79973078 79973078 T - DEL ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known frame_shift_del c.1481 p.W496fs 0.682 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 119 0 0 67 13 16.25 RAB40B 0 genome.wustl.edu 37 17 80615785 80615786 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 80615785 80615786 - G INS RAB40B ENST00000571995 human ensembl 74_37 -1 known frame_shift_ins c.791_790 p.Q264fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 200 0 0 147 10 6.36943 PFAS 0 genome.wustl.edu 37 17 8167809 8167809 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 17 8167809 8167809 C - DEL PFAS ENST00000314666 human ensembl 74_37 +1 known frame_shift_del c.1939 p.M649fs 0.000 superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 112 0 0 78 12 13.3333 ROCK1 0 genome.wustl.edu 37 18 18533679 18533679 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 18533679 18533679 T - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.3921 p.K1307fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 255 0 0 208 12 5.45455 ESCO1 0 genome.wustl.edu 37 18 19153442 19153442 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 19153442 19153442 T - DEL ESCO1 ENST00000269214 human ensembl 74_37 -1 known frame_shift_del c.1363 p.M455fs 0.908 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 161 0 0 105 15 12.5 DSG2 0 genome.wustl.edu 37 18 29116366 29116366 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 29116366 29116366 A - DEL DSG2 ENST00000261590 human ensembl 74_37 +1 known frame_shift_del c.1625 p.K543fs 0.763 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 74 0 0 59 11 15.7143 WBP11P1 0 genome.wustl.edu 37 18 30092752 30092752 + RNA DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 30092752 30092752 A - DEL WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 0.722 - - - no_errors WBP11P1 HGNC ENSG00000260389 118 0 0 79 11 12.2222 CCDC178 0 genome.wustl.edu 37 18 30806795 30806796 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 30806795 30806796 - T INS CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_ins c.1618_1617 p.L539fs 0.021:0.017 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 177 0 0 98 16 14.0351 HAUS1 0 genome.wustl.edu 37 18 43685174 43685174 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 43685174 43685174 A - DEL HAUS1 ENST00000282058 human ensembl 74_37 +1 known frame_shift_del c.45 p.I18fs 1.000 NULL NULL - no_errors HAUS1 HGNC ENSG00000152240 89 0 0 65 16 19.7531 ALPK2 0 genome.wustl.edu 37 18 56202354 56202355 + Frame_Shift_Del DEL TC TC - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 56202354 56202355 TC - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.5065_5064 p.K1689fs 0.000:0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 161 0 0 134 29 17.7914 PIGN 0 genome.wustl.edu 37 18 59777147 59777147 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 59777147 59777147 A - DEL PIGN ENST00000357637 human ensembl 74_37 -1 known frame_shift_del c.1494 p.L499fs 1.000 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 162 0 0 148 37 20 KIAA1468 0 genome.wustl.edu 37 18 59878464 59878464 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 59878464 59878464 A - DEL KIAA1468 ENST00000256858 human ensembl 74_37 +1 known frame_shift_del c.605 p.V204fs 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 178 0 0 115 13 10.1562 DSEL 0 genome.wustl.edu 37 18 65178971 65178971 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 65178971 65178971 T - DEL DSEL ENST00000310045 human ensembl 74_37 -1 known frame_shift_del c.2905 p.R969fs 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 260 0 0 171 30 14.9254 ENOSF1 0 genome.wustl.edu 37 18 677751 677751 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 18 677751 677751 T - DEL ENOSF1 ENST00000340116 human ensembl 74_37 -1 known frame_shift_del c.1061 p.K354fs 1.000 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 307 0 0 213 43 16.7969 ABCA7 0 genome.wustl.edu 37 19 1043448 1043448 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 1043448 1043448 T - DEL ABCA7 ENST00000263094 human ensembl 74_37 +1 known frame_shift_del c.906 p.F303fs 0.263 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 226 0 0 152 31 16.9399 HMHA1 0 genome.wustl.edu 37 19 1074149 1074149 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 1074149 1074149 G - DEL HMHA1 ENST00000313093 human ensembl 74_37 +1 known frame_shift_del c.837 p.G281fs 1.000 smart_FCH_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 54 0 0 48 11 18.6441 PRKACA 0 genome.wustl.edu 37 19 14218178 14218178 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14218178 14218178 T - DEL PRKACA ENST00000308677 human ensembl 74_37 -1 known frame_shift_del c.90 p.K30fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 438 0 0 274 56 16.9697 GIPC1 0 genome.wustl.edu 37 19 14591535 14591535 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14591535 14591535 C - DEL GIPC1 ENST00000345425 human ensembl 74_37 -1 known frame_shift_del c.344 p.G115fs 1.000 superfamily_PDZ,pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 190 0 0 122 14 10.2941 NDUFB7 0 genome.wustl.edu 37 19 14682803 14682803 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 14682803 14682803 G - DEL NDUFB7 ENST00000215565 human ensembl 74_37 -1 known frame_shift_del c.10 p.H4fs 1.000 NULL pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC ENSG00000099795 10 0 0 9 2 18.1818 SYDE1 0 genome.wustl.edu 37 19 15224736 15224737 + Frame_Shift_Del DEL GA GA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 15224736 15224737 GA - DEL SYDE1 ENST00000342784 human ensembl 74_37 +1 known frame_shift_del c.2170_2171 p.E726fs 1.000:1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 262 0 0 197 27 12.0536 C19orf44 0 genome.wustl.edu 37 19 16612295 16612295 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 16612295 16612295 A - DEL C19orf44 ENST00000221671 human ensembl 74_37 +1 known frame_shift_del c.692 p.N233fs 0.007 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 145 0 0 130 29 18.239 ZNF486 0 genome.wustl.edu 37 19 20308052 20308052 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 20308052 20308052 A - DEL ZNF486 ENST00000335117 human ensembl 74_37 +1 known frame_shift_del c.533 p.K180fs 0.996 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC ENSG00000256229 157 0 0 88 15 14.5631 ZNF737 0 genome.wustl.edu 37 19 20735323 20735324 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 20735323 20735324 - T INS ZNF737 ENST00000427401 human ensembl 74_37 -1 known frame_shift_ins c.184_183 p.P61fs 0.039:0.043 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 123 0 0 77 18 18.9474 ZNF43 0 genome.wustl.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 21992087 21992087 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.752 p.N251fs 0.932 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 176 0 0 108 27 20 ZNF554 0 genome.wustl.edu 37 19 2834447 2834447 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 2834447 2834447 A - DEL ZNF554 ENST00000317243 human ensembl 74_37 +1 known frame_shift_del c.1214 p.K406fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF554 HGNC ENSG00000172006 98 0 0 79 11 12.2222 TSHZ3 0 genome.wustl.edu 37 19 31768852 31768852 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 31768852 31768852 T - DEL TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_del c.1847 p.K616fs 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 205 0 0 135 32 19.1617 C19orf40 0 genome.wustl.edu 37 19 33464114 33464114 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 33464114 33464114 C - DEL C19orf40 ENST00000588258 human ensembl 74_37 +1 known frame_shift_del c.12 p.P6fs 0.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 105 0 0 73 16 17.9775 SLC7A10 0 genome.wustl.edu 37 19 33703794 33703794 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 33703794 33703794 G - DEL SLC7A10 ENST00000253188 human ensembl 74_37 -1 known frame_shift_del c.471 p.T158fs 0.068 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 84 0 0 64 10 13.5135 KMT2B 0 genome.wustl.edu 37 19 36216188 36216189 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36216188 36216189 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.3596_3597 p.M1202fs 0.955:0.130 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 36 0 0 43 6 12.2449 KMT2B 0 genome.wustl.edu 37 19 36218451 36218451 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 36218451 36218451 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.4230 p.G1412fs 1.000 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 96 0 0 90 13 12.6214 ZNF793 0 genome.wustl.edu 37 19 38028415 38028415 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 38028415 38028415 T - DEL ZNF793 ENST00000445217 human ensembl 74_37 +1 known frame_shift_del c.855 p.C288fs 0.222 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 56 0 0 43 6 12.2449 CYP2B7P1 0 genome.wustl.edu 37 19 41450820 41450820 + RNA DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 41450820 41450820 A - DEL CYP2B7P1 ENST00000602646 human ensembl 74_37 +1 known rna NULL NULL 0.080 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 178 0 0 116 24 17.1429 ZNF223 0 genome.wustl.edu 37 19 44571253 44571253 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 44571253 44571253 A - DEL ZNF223 ENST00000591793 human ensembl 74_37 +1 known frame_shift_del c.1602 p.K536fs 0.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 218 0 0 150 26 14.7727 PLIN4 0 genome.wustl.edu 37 19 4511061 4511061 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 4511061 4511061 C - DEL PLIN4 ENST00000301286 human ensembl 74_37 -1 novel frame_shift_del c.2869 p.A957fs 0.521 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 78 0 0 54 11 16.9231 PPP5C 0 genome.wustl.edu 37 19 46850393 46850393 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 46850393 46850393 C - DEL PPP5C ENST00000012443 human ensembl 74_37 +1 known frame_shift_del c.40 p.R16fs 0.993 pirsf_Ser/Thr_PPase_5 pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 12 0 0 4 4 50 GRIN2D 0 genome.wustl.edu 37 19 48918135 48918135 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 48918135 48918135 C - DEL GRIN2D ENST00000263269 human ensembl 74_37 +1 known frame_shift_del c.1427 p.R478fs 1.000 smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 128 0 0 74 9 10.8434 LMTK3 0 genome.wustl.edu 37 19 49012191 49012191 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 49012191 49012191 G - DEL LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_del c.561 p.A188fs 0.966 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 116 0 0 72 11 13.253 FAM71E1 0 genome.wustl.edu 37 19 50979605 50979605 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 50979605 50979605 G - DEL FAM71E1 ENST00000600100 human ensembl 74_37 -1 known frame_shift_del c.41 p.P14fs 0.000 NULL pfam_DUF3699 - no_errors FAM71E1 HGNC ENSG00000142530 57 0 0 40 11 21.5686 SIGLEC10 0 genome.wustl.edu 37 19 51918205 51918205 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 51918205 51918205 G - DEL SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known frame_shift_del c.1488 p.S497fs 0.558 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 67 0 0 44 7 13.7255 SIGLEC14 0 genome.wustl.edu 37 19 52147202 52147202 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 52147202 52147202 G - DEL SIGLEC14 ENST00000360844 human ensembl 74_37 -1 known frame_shift_del c.842 p.P281fs 0.988 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC14 HGNC ENSG00000254415 74 0 0 48 16 25 ZNF677 0 genome.wustl.edu 37 19 53740671 53740672 + Frame_Shift_Del DEL CA CA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 53740671 53740672 CA - DEL ZNF677 ENST00000333952 human ensembl 74_37 -1 known frame_shift_del c.1309_1308 p.C436fs 0.999:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 136 0 0 122 20 14.0845 USP29 0 genome.wustl.edu 37 19 57640238 57640239 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 57640238 57640239 - A INS USP29 ENST00000254181 human ensembl 74_37 +1 known frame_shift_ins c.195_196 p.R67fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 103 0 0 105 12 10.2564 ZNF419 0 genome.wustl.edu 37 19 58005228 58005228 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58005228 58005228 T - DEL ZNF419 ENST00000424930 human ensembl 74_37 +1 known frame_shift_del c.1306 p.F437fs 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 292 0 0 173 45 20.6422 ZNF584 0 genome.wustl.edu 37 19 58928585 58928585 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 58928585 58928585 A - DEL ZNF584 ENST00000306910 human ensembl 74_37 +1 known frame_shift_del c.700 p.K234fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 73 0 0 91 19 17.2727 RANBP3 0 genome.wustl.edu 37 19 5951588 5951588 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 5951588 5951588 T - DEL RANBP3 ENST00000340578 human ensembl 74_37 -1 known frame_shift_del c.98 p.N33fs 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 41 0 0 29 7 19.4444 CAMSAP3 0 genome.wustl.edu 37 19 7675769 7675769 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7675769 7675769 C - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1082 p.R363fs 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 94 0 0 68 12 15 SNAPC2 0 genome.wustl.edu 37 19 7987519 7987519 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 7987519 7987519 C - DEL SNAPC2 ENST00000221573 human ensembl 74_37 +1 known frame_shift_del c.875 p.P294fs 0.077 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 72 0 0 60 11 15.493 FBN3 0 genome.wustl.edu 37 19 8175743 8175743 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 8175743 8175743 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.4319 p.G1440fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 164 0 0 101 24 19.2 ZNF266 0 genome.wustl.edu 37 19 9524215 9524215 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 9524215 9524215 T - DEL ZNF266 ENST00000361151 human ensembl 74_37 -1 known frame_shift_del c.1386 p.K462fs 0.987 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 77 0 0 85 14 14.1414 ARID3A 0 genome.wustl.edu 37 19 965040 965041 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 19 965040 965041 - A INS ARID3A ENST00000263620 human ensembl 74_37 +1 known frame_shift_ins c.1158_1159 p.N386fs 1.000:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 71 0 0 50 5 9.09091 GCC2 0 genome.wustl.edu 37 2 109086477 109086477 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 109086477 109086477 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.692 p.N233fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 237 0 0 209 43 17.0635 ZC3H6 0 genome.wustl.edu 37 2 113060881 113060881 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113060881 113060881 A - DEL ZC3H6 ENST00000343936 human ensembl 74_37 +1 known frame_shift_del c.289 p.R99fs 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 146 0 0 105 16 13.2231 SLC20A1 0 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 113416607 113416608 AG - DEL SLC20A1 ENST00000272542 human ensembl 74_37 +1 known frame_shift_del c.984_985 p.R332fs 0.023:0.531 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 138 0 0 113 23 16.9118 ZRANB3 0 genome.wustl.edu 37 2 135988440 135988440 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 135988440 135988440 T - DEL ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_del c.1597 p.R533fs 0.015 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 135 0 0 115 25 17.8571 RBM43 0 genome.wustl.edu 37 2 152107765 152107765 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 152107765 152107765 T - DEL RBM43 ENST00000331426 human ensembl 74_37 -1 known frame_shift_del c.729 p.K243fs 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 165 0 0 133 19 12.5 GALNT3 0 genome.wustl.edu 37 2 166613688 166613688 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 166613688 166613688 T - DEL GALNT3 ENST00000392701 human ensembl 74_37 -1 known frame_shift_del c.1261 p.S421fs 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 168 0 0 121 15 11.0294 SCN9A 0 genome.wustl.edu 37 2 167144964 167144965 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 167144964 167144965 - T INS SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_ins c.1300_1299 p.E433fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 230 0 0 178 19 9.64467 UBR3 0 genome.wustl.edu 37 2 170865361 170865361 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 170865361 170865361 A - DEL UBR3 ENST00000272793 human ensembl 74_37 +1 known frame_shift_del c.4278 p.N1428fs 0.708 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 77 0 0 57 9 13.6364 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 168 0 0 111 23 17.1642 HOXD8 0 genome.wustl.edu 37 2 176995458 176995458 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 176995458 176995458 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.364 p.C124fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 242 0 0 114 26 18.5714 GEN1 0 genome.wustl.edu 37 2 17941334 17941334 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 17941334 17941334 A - DEL GEN1 ENST00000317402 human ensembl 74_37 +1 known frame_shift_del c.124 p.M44fs 1.000 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 144 0 0 124 19 13.2867 TTN 0 genome.wustl.edu 37 2 179505298 179505298 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 179505298 179505298 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.32989 p.R10997fs 0.336 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 362 0 0 222 47 17.4721 NEUROD1 0 genome.wustl.edu 37 2 182542971 182542971 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 182542971 182542971 T - DEL NEUROD1 ENST00000295108 human ensembl 74_37 -1 known frame_shift_del c.617 p.H206fs 0.999 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 121 0 0 103 9 8.03571 DNAJC10 0 genome.wustl.edu 37 2 183595815 183595815 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 183595815 183595815 T - DEL DNAJC10 ENST00000264065 human ensembl 74_37 +1 known frame_shift_del c.786 p.C264fs 0.999 superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 100 0 0 83 25 23.1481 DNAH7 0 genome.wustl.edu 37 2 196722321 196722321 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 196722321 196722321 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.8194 p.I2732fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 168 0 0 114 26 18.5714 RAPH1 0 genome.wustl.edu 37 2 204305798 204305798 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 204305798 204305798 G - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_del c.2271 p.N758fs 0.912 superfamily_Kinase-like_dom pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 66 0 0 51 9 15 RAPH1 0 genome.wustl.edu 37 2 204326092 204326092 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 204326092 204326092 T - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_del c.1006 p.T336fs 1.000 pfam_Ras-assoc,superfamily_Kinase-like_dom,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 127 0 0 89 21 19.0909 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 138 0 0 82 24 22.6415 ZDBF2 0 genome.wustl.edu 37 2 207172526 207172526 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 207172526 207172526 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.3274 p.I1094fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 107 0 0 75 13 14.7727 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 198 0 0 167 40 19.3237 KANSL1L 0 genome.wustl.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 210887680 210887680 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2957 p.N986fs 0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 120 0 0 89 17 16.0377 CCDC108 0 genome.wustl.edu 37 2 219892999 219892999 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 219892999 219892999 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.1775 p.P592fs 0.993 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 99 0 0 68 15 18.0723 DOCK10 0 genome.wustl.edu 37 2 225738848 225738848 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 225738848 225738848 T - DEL DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_del c.1122 p.D375fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 32 0 0 30 7 18.9189 IRS1 0 genome.wustl.edu 37 2 227662352 227662352 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 227662352 227662352 G - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.1103 p.P368fs 0.978 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 68 0 0 57 5 8.06452 COL4A3 0 genome.wustl.edu 37 2 228125809 228125809 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 228125809 228125809 C - DEL COL4A3 ENST00000396578 human ensembl 74_37 +1 known frame_shift_del c.1126 p.G378fs 0.662 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 136 0 0 89 13 12.7451 SPHKAP 0 genome.wustl.edu 37 2 228973586 228973586 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 228973586 228973586 T - DEL SPHKAP ENST00000392056 human ensembl 74_37 -1 known frame_shift_del c.208 p.I70fs 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 273 0 0 187 28 13.0233 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 146 0 0 104 14 11.8644 DIS3L2 0 genome.wustl.edu 37 2 233194613 233194613 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 233194613 233194613 C - DEL DIS3L2 ENST00000325385 human ensembl 74_37 +1 known frame_shift_del c.1830 p.P612fs 1.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 55 0 0 40 9 18.3673 UGT1A7 0 genome.wustl.edu 37 2 234590941 234590941 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 234590941 234590941 T - DEL UGT1A7 ENST00000373426 human ensembl 74_37 +1 known frame_shift_del c.358 p.S122fs 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A7 HGNC ENSG00000244122 297 0 0 182 47 20.524 HDLBP 0 genome.wustl.edu 37 2 242187454 242187454 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 242187454 242187454 T - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.1695 p.K565fs 0.984 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 213 0 0 156 18 10.3448 ADCY3 0 genome.wustl.edu 37 2 25062829 25062829 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 25062829 25062829 C - DEL ADCY3 ENST00000260600 human ensembl 74_37 -1 known frame_shift_del c.1268 p.G423fs 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 148 0 0 116 30 20.5479 IFT172 0 genome.wustl.edu 37 2 27682634 27682634 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 27682634 27682634 C - DEL IFT172 ENST00000260570 human ensembl 74_37 -1 known frame_shift_del c.2584 p.D862fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 356 0 0 236 49 17.193 BRE 0 genome.wustl.edu 37 2 28248273 28248273 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 28248273 28248273 A - DEL BRE ENST00000344773 human ensembl 74_37 +1 known frame_shift_del c.481 p.N163fs 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 109 0 0 77 9 10.4651 XDH 0 genome.wustl.edu 37 2 31598297 31598299 + In_Frame_Del DEL GAA GAA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 31598297 31598299 GAA - DEL XDH ENST00000379416 human ensembl 74_37 -1 known in_frame_del c.1551_1549 p.F517in_frame_del 1.000:1.000:1.000 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 175 0 0 171 27 13.6364 FAM98A 0 genome.wustl.edu 37 2 33810704 33810704 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 33810704 33810704 T - DEL FAM98A ENST00000238823 human ensembl 74_37 -1 known frame_shift_del c.781 p.T261fs 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 212 0 0 175 43 19.7248 TRAPPC12 0 genome.wustl.edu 37 2 3405587 3405588 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 3405587 3405588 - A INS TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known frame_shift_ins c.1087_1088 p.A365fs 1.000:1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 378 0 0 238 53 18.2131 DHX57 0 genome.wustl.edu 37 2 39074185 39074185 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 39074185 39074185 A - DEL DHX57 ENST00000295373 human ensembl 74_37 -1 known frame_shift_del c.2195 p.L732fs 1.000 superfamily_P-loop_NTPase pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 78 0 0 66 19 22.3529 SIX2 0 genome.wustl.edu 37 2 45233498 45233498 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 45233498 45233498 G - DEL SIX2 ENST00000303077 human ensembl 74_37 -1 known frame_shift_del c.687 p.A230fs 0.178 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 113 0 0 94 15 13.7615 MSH2 0 genome.wustl.edu 37 2 47656978 47656978 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 47656978 47656978 A - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.1174 p.K392fs 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 179 0 0 109 24 18.0451 CEP68 0 genome.wustl.edu 37 2 65305008 65305011 + Frame_Shift_Del DEL AAGA AAGA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 65305008 65305011 AAGA - DEL CEP68 ENST00000377990 human ensembl 74_37 +1 known frame_shift_del c.2014_2017 p.K673fs 1.000:1.000:1.000:1.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 143 0 0 100 26 20.6349 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 136 0 0 110 14 11.2903 ZNF638 0 genome.wustl.edu 37 2 71626730 71626730 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71626730 71626730 G - DEL ZNF638 ENST00000264447 human ensembl 74_37 +1 known frame_shift_del c.2542 p.N849fs 0.643 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 182 0 0 151 11 6.79012 DYSF 0 genome.wustl.edu 37 2 71839797 71839797 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71839797 71839797 C - DEL DYSF ENST00000413539 human ensembl 74_37 +1 known frame_shift_del c.4287 p.I1432fs 0.989 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 93 0 0 70 10 12.5 DYSF 0 genome.wustl.edu 37 2 71906295 71906295 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 71906295 71906295 T - DEL DYSF ENST00000413539 human ensembl 74_37 +1 known frame_shift_del c.5969 p.F1991fs 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 106 0 0 65 13 16.6667 ENSG00000237077 0 genome.wustl.edu 37 2 78020201 78020214 + RNA DEL AAAAAAAAAAAAAA AAAAAAAAAAAAAA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AAAAAAAAAAAAAA AAAAAAAAAAAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 78020201 78020214 AAAAAAAAAAAAAA - DEL ENSG00000237077 ENST00000422418 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000:0.001:0.002:0.008:0.005:0.004:0.001:0.000:0.000:0.000:0.000:0.000:0.001 - - - no_errors AC105399.2 Clone_based_vega_gene ENSG00000237077 8 0 0 3 3 50 TCF7L1 0 genome.wustl.edu 37 2 85532498 85532498 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 85532498 85532498 C - DEL TCF7L1 ENST00000282111 human ensembl 74_37 +1 known frame_shift_del c.961 p.S323fs 0.298 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 63 0 0 55 3 5.17241 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 208 0 0 155 14 8.28402 RNF103 0 genome.wustl.edu 37 2 86849989 86849990 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 86849989 86849990 - A INS RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_ins c.21_20 p.L9fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 34 0 0 24 3 11.1111 KIDINS220 0 genome.wustl.edu 37 2 8871749 8871749 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 8871749 8871749 G - DEL KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_del c.4417 p.L1473fs 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 190 0 0 121 30 19.8675 EIF2AK3 0 genome.wustl.edu 37 2 88879087 88879087 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 88879087 88879087 T - DEL EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_del c.1835 p.N612fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 236 0 0 178 37 17.2093 KIDINS220 0 genome.wustl.edu 37 2 8926140 8926140 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 8926140 8926140 T - DEL KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_del c.1960 p.T654fs 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 143 0 0 94 12 11.3208 PROM2 0 genome.wustl.edu 37 2 95953207 95953209 + In_Frame_Del DEL GAG GAG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 95953207 95953209 GAG - DEL PROM2 ENST00000317620 human ensembl 74_37 +1 known in_frame_del c.2239_2241 p.E748in_frame_del 0.949:0.990:0.997 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 87 0 0 58 9 13.4328 NCAPH 0 genome.wustl.edu 37 2 97025921 97025921 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 97025921 97025921 A - DEL NCAPH ENST00000240423 human ensembl 74_37 +1 known frame_shift_del c.1398 p.D469fs 0.914 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 187 0 0 113 20 15.0376 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 172 0 0 106 29 21.4815 EIF5B 0 genome.wustl.edu 37 2 99977650 99977650 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 2 99977650 99977650 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.286 p.K98fs 0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 127 0 0 85 10 10.5263 ESF1 0 genome.wustl.edu 37 20 13714388 13714388 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 13714388 13714388 T - DEL ESF1 ENST00000202816 human ensembl 74_37 -1 known frame_shift_del c.1930 p.R644fs 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 270 0 0 157 39 19.898 KIF16B 0 genome.wustl.edu 37 20 16348120 16348120 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 16348120 16348120 A - DEL KIF16B ENST00000408042 human ensembl 74_37 -1 known frame_shift_del c.3850 p.Y1284fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 240 0 0 163 27 14.2105 SNRPB2 0 genome.wustl.edu 37 20 16717990 16717990 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 16717990 16717990 A - DEL SNRPB2 ENST00000246071 human ensembl 74_37 +1 known frame_shift_del c.322 p.A110fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPB2 HGNC ENSG00000125870 80 0 0 59 8 11.9403 RIN2 0 genome.wustl.edu 37 20 19956394 19956394 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 19956394 19956394 C - DEL RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_del c.1872 p.I627fs 0.882 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 35 0 0 29 7 19.4444 CST1 0 genome.wustl.edu 37 20 23729754 23729754 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 23729754 23729754 C - DEL CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 234 0 0 160 27 14.4385 PCED1A 0 genome.wustl.edu 37 20 2816204 2816204 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 2816204 2816204 C - DEL PCED1A ENST00000360652 human ensembl 74_37 -1 known frame_shift_del c.1269 p.C425fs 0.001 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 96 0 0 65 17 20.7317 PLAGL2 0 genome.wustl.edu 37 20 30789952 30789952 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 30789952 30789952 G - DEL PLAGL2 ENST00000246229 human ensembl 74_37 -1 known frame_shift_del c.30 p.W11fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 100 0 0 89 19 17.5926 ASXL1 0 genome.wustl.edu 37 20 31024833 31024833 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31024833 31024833 T - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.4318 p.Y1441fs 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 276 0 0 182 34 15.7407 BPIFB4 0 genome.wustl.edu 37 20 31671213 31671214 + Frame_Shift_Ins INS - - CC TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31671213 31671214 - CC INS BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.V73fs 0.020:0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 210 1 0.473934 132 10 7.04225 BPIFB1 0 genome.wustl.edu 37 20 31890782 31890782 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 31890782 31890782 T - DEL BPIFB1 ENST00000253354 human ensembl 74_37 +1 known frame_shift_del c.1042 p.F349fs 0.000 superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 136 0 0 95 16 14.4144 SNTA1 0 genome.wustl.edu 37 20 32026753 32026753 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 32026753 32026753 A - DEL SNTA1 ENST00000217381 human ensembl 74_37 -1 known frame_shift_del c.390 p.F130fs 0.164 pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 265 0 0 187 35 15.7658 EIF2S2 0 genome.wustl.edu 37 20 32693304 32693306 + In_Frame_Del DEL CTT CTT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 32693304 32693306 CTT - DEL EIF2S2 ENST00000374980 human ensembl 74_37 -1 known in_frame_del c.63_61 p.K21in_frame_del 1.000:1.000:1.000 NULL pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 57 0 0 43 7 14 NCOA6 0 genome.wustl.edu 37 20 33338001 33338001 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 33338001 33338001 G - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known frame_shift_del c.1997 p.P666fs 0.980 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 149 0 0 103 16 13.4454 RALGAPB 0 genome.wustl.edu 37 20 37203484 37203485 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 37203484 37203485 - C INS RALGAPB ENST00000262879 human ensembl 74_37 +1 known frame_shift_ins c.4359_4360 p.H1455fs 0.992:1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 189 0 0 148 20 11.9048 EMILIN3 0 genome.wustl.edu 37 20 39992288 39992288 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 39992288 39992288 G - DEL EMILIN3 ENST00000332312 human ensembl 74_37 -1 known frame_shift_del c.504 p.S169fs 0.800 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 74 0 0 61 11 15.2778 PTPN1 0 genome.wustl.edu 37 20 49196293 49196293 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 49196293 49196293 C - DEL PTPN1 ENST00000371621 human ensembl 74_37 +1 known frame_shift_del c.918 p.P308fs 0.106 pirsf_Ptpn1/Ptpn2 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 162 0 0 108 19 14.9606 EDN3 0 genome.wustl.edu 37 20 57896191 57896192 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 57896191 57896192 - G INS EDN3 ENST00000337938 human ensembl 74_37 +1 known frame_shift_ins c.485_486 p.R164fs 0.000:0.000 smart_Endothln-like_toxin pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 201 0 0 139 24 14.7239 SYCP2 0 genome.wustl.edu 37 20 58467121 58467121 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 58467121 58467121 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2288 p.N763fs 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 188 0 0 104 19 15.4472 TRMT6 0 genome.wustl.edu 37 20 5924808 5924808 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 5924808 5924808 T - DEL TRMT6 ENST00000203001 human ensembl 74_37 -1 known frame_shift_del c.458 p.K153fs 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 46 0 0 14 6 30 COL20A1 0 genome.wustl.edu 37 20 61939423 61939423 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 20 61939423 61939423 G - DEL COL20A1 ENST00000326996 human ensembl 74_37 +1 known frame_shift_del c.756 p.N255fs 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 41 0 0 39 4 9.30233 BACH1 0 genome.wustl.edu 37 21 30698571 30698571 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 30698571 30698571 A - DEL BACH1 ENST00000286800 human ensembl 74_37 +1 known frame_shift_del c.426 p.K144fs 0.006 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 142 0 0 139 25 15.2439 KRTAP15-1 0 genome.wustl.edu 37 21 31812780 31812781 + Frame_Shift_Del DEL CT CT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 31812780 31812781 CT - DEL KRTAP15-1 ENST00000334067 human ensembl 74_37 +1 known frame_shift_del c.135_136 p.Y48fs 0.014:0.010 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 171 0 0 126 22 14.8649 IFNAR1 0 genome.wustl.edu 37 21 34727754 34727754 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 34727754 34727754 A - DEL IFNAR1 ENST00000270139 human ensembl 74_37 +1 known frame_shift_del c.1573 p.K526fs 0.001 pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 124 0 0 133 28 17.3913 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 118 0 0 62 15 19.4805 KCNJ15 0 genome.wustl.edu 37 21 39671215 39671215 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 39671215 39671215 C - DEL KCNJ15 ENST00000328656 human ensembl 74_37 +1 known frame_shift_del c.32 p.L13fs 0.000 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 100 0 0 82 13 13.6842 KRTAP10-2 0 genome.wustl.edu 37 21 45971060 45971060 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 45971060 45971060 G - DEL KRTAP10-2 ENST00000391621 human ensembl 74_37 -1 known frame_shift_del c.282 p.C95fs 0.997 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 155 0 0 106 15 12.3967 PRMT2 0 genome.wustl.edu 37 21 48080764 48080764 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 21 48080764 48080764 T - DEL PRMT2 ENST00000355680 human ensembl 74_37 +1 known frame_shift_del c.850 p.S286fs 1.000 pfam_Arg_MeTrfase pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 303 0 0 214 48 18.3206 DEPDC5 0 genome.wustl.edu 37 22 32293527 32293527 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32293527 32293527 G - DEL DEPDC5 ENST00000266091 human ensembl 74_37 +1 known frame_shift_del c.4197 p.P1401fs 0.855 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 223 0 0 154 27 14.9171 RTCB 0 genome.wustl.edu 37 22 32794005 32794006 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 32794005 32794006 - T INS RTCB ENST00000216038 human ensembl 74_37 -1 known frame_shift_ins c.737_736 p.M246fs 1.000:1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 261 0 0 188 36 16.0714 ACO2 0 genome.wustl.edu 37 22 41919849 41919849 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 41919849 41919849 G - DEL ACO2 ENST00000216254 human ensembl 74_37 +1 known frame_shift_del c.1386 p.E464fs 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 89 0 0 49 10 16.9492 TCF20 0 genome.wustl.edu 37 22 42564716 42564716 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 42564716 42564716 G - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5826 p.L1943fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 60 0 0 38 10 20.8333 TCF20 0 genome.wustl.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 42610947 42610948 - G INS TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_ins c.365_364 p.Q122fs 1.000:1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 291 0 0 205 40 16.3265 LDOC1L 0 genome.wustl.edu 37 22 44893287 44893289 + In_Frame_Del DEL CTT CTT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 44893287 44893289 CTT - DEL LDOC1L ENST00000341255 human ensembl 74_37 -1 known in_frame_del c.150_148 p.K50in_frame_del 1.000:1.000:0.998 NULL NULL - no_errors LDOC1L HGNC ENSG00000188636 32 0 0 26 10 27.7778 ALG12 0 genome.wustl.edu 37 22 50297546 50297546 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50297546 50297546 G - DEL ALG12 ENST00000330817 human ensembl 74_37 -1 known frame_shift_del c.1407 p.F470fs 0.546 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 133 0 0 86 12 12.2449 TRABD 0 genome.wustl.edu 37 22 50635925 50635925 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50635925 50635925 C - DEL TRABD ENST00000303434 human ensembl 74_37 +1 known frame_shift_del c.579 p.V195fs 1.000 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 112 0 0 100 17 14.5299 PLXNB2 0 genome.wustl.edu 37 22 50716676 50716676 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 22 50716676 50716676 T - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.4757 p.N1586fs 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 56 0 0 46 6 11.5385 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039737 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 100039736 100039737 AA - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939_1940 p.K649fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 127 0 0 98 25 20.3252 NFKBIZ 0 genome.wustl.edu 37 3 101571028 101571029 + Frame_Shift_Del DEL AT AT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 101571028 101571029 AT - DEL NFKBIZ ENST00000326172 human ensembl 74_37 +1 known frame_shift_del c.389_390 p.H130fs 0.998:0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 354 0 0 231 65 21.9595 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 91 0 0 52 10 16.129 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 104 0 0 99 24 19.5122 HGD 0 genome.wustl.edu 37 3 120352070 120352071 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 120352070 120352071 - G INS HGD ENST00000283871 human ensembl 74_37 -1 known frame_shift_ins c.1112_1111 p.H371fs 1.000:1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 176 0 0 136 22 13.9241 PARP15 0 genome.wustl.edu 37 3 122345823 122345823 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 122345823 122345823 A - DEL PARP15 ENST00000464300 human ensembl 74_37 +1 known frame_shift_del c.1381 p.R463fs 0.149 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 149 0 0 110 23 17.2932 UMPS 0 genome.wustl.edu 37 3 124458976 124458976 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 124458976 124458976 G - DEL UMPS ENST00000232607 human ensembl 74_37 +1 known frame_shift_del c.1088 p.C365fs 0.998 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 283 0 0 186 30 13.8889 TMEM108 0 genome.wustl.edu 37 3 133098772 133098772 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 133098772 133098772 C - DEL TMEM108 ENST00000321871 human ensembl 74_37 +1 known frame_shift_del c.217 p.S75fs 0.967 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 221 0 0 174 15 7.93651 RBP2 0 genome.wustl.edu 37 3 139173585 139173585 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 139173585 139173585 C - DEL RBP2 ENST00000232217 human ensembl 74_37 -1 known frame_shift_del c.340 p.D114fs 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP2 HGNC ENSG00000114113 230 0 0 139 36 20.5714 ZBTB38 0 genome.wustl.edu 37 3 141162874 141162875 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 141162874 141162875 - A INS ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_ins c.1647_1648 p.T551fs 0.954:0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 177 0 0 145 23 13.6905 GRK7 0 genome.wustl.edu 37 3 141535708 141535708 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 141535708 141535708 G - DEL GRK7 ENST00000264952 human ensembl 74_37 +1 known frame_shift_del c.1478 p.V495fs 0.568 smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 395 0 0 332 47 12.4011 ATR 0 genome.wustl.edu 37 3 142188315 142188315 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 142188315 142188315 A - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.6416 p.L2139fs 1.000 pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 260 0 0 153 24 13.5593 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 75 0 0 67 12 15.1899 PHC3 0 genome.wustl.edu 37 3 169889138 169889138 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 169889138 169889138 A - DEL PHC3 ENST00000497658 human ensembl 74_37 -1 known frame_shift_del c.437 p.F146fs 0.001 NULL NULL - no_errors PHC3 HGNC ENSG00000173889 23 0 0 24 9 27.2727 ATP11B 0 genome.wustl.edu 37 3 182587084 182587085 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 182587084 182587085 - A INS ATP11B ENST00000323116 human ensembl 74_37 +1 known frame_shift_ins c.1831_1832 p.T613fs 1.000:1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 86 0 0 46 7 13.2075 B3GNT5 0 genome.wustl.edu 37 3 182987917 182987918 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 182987917 182987918 - G INS B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_ins c.331_332 p.N113fs 0.998:1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 149 0 0 100 25 20 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 49 0 0 34 5 12.8205 CLCN2 0 genome.wustl.edu 37 3 184070896 184070896 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 184070896 184070896 C - DEL CLCN2 ENST00000265593 human ensembl 74_37 -1 known frame_shift_del c.2068 p.E690fs 0.740 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 269 0 0 176 41 18.894 UTS2B 0 genome.wustl.edu 37 3 190999917 190999917 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 190999917 190999917 C - DEL UTS2B ENST00000446788 human ensembl 74_37 -1 known frame_shift_del c.62 p.S21fs 0.000 NULL NULL - no_errors UTS2B HGNC ENSG00000188958 63 0 0 61 13 17.5676 ATP13A5 0 genome.wustl.edu 37 3 193051570 193051570 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 193051570 193051570 A - DEL ATP13A5 ENST00000342358 human ensembl 74_37 -1 known frame_shift_del c.1241 p.F414fs 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 121 0 0 95 10 9.52381 TNK2 0 genome.wustl.edu 37 3 195595229 195595229 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 195595229 195595229 G - DEL TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_del c.2129 p.P710fs 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 32 0 0 29 5 14.7059 PDCD6IP 0 genome.wustl.edu 37 3 33866810 33866811 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 33866810 33866811 - T INS PDCD6IP ENST00000457054 human ensembl 74_37 +1 known frame_shift_ins c.594_595 p.L200fs 0.440:0.997 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 280 0 0 216 28 11.4754 EPM2AIP1 0 genome.wustl.edu 37 3 37033280 37033280 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 37033280 37033280 T - DEL EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known frame_shift_del c.1289 p.N430fs 0.113 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 124 0 0 96 17 15.0442 DLEC1 0 genome.wustl.edu 37 3 38104179 38104179 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38104179 38104179 A - DEL DLEC1 ENST00000346219 human ensembl 74_37 +1 known frame_shift_del c.981 p.N329fs 0.030 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 102 0 0 90 14 13.4615 SCN10A 0 genome.wustl.edu 37 3 38750970 38750970 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 38750970 38750970 T - DEL SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_del c.4280 p.K1427fs 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 234 0 0 152 8 5 CSRNP1 0 genome.wustl.edu 37 3 39185301 39185302 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 39185301 39185302 - G INS CSRNP1 ENST00000273153 human ensembl 74_37 -1 known frame_shift_ins c.1015_1014 p.M338fs 0.000:0.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP1 HGNC ENSG00000144655 80 0 0 57 10 14.9254 ZNF35 0 genome.wustl.edu 37 3 44700847 44700847 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 44700847 44700847 A - DEL ZNF35 ENST00000396056 human ensembl 74_37 +1 known frame_shift_del c.992 p.K332fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 148 0 0 107 28 20.7407 SETD2 0 genome.wustl.edu 37 3 47161907 47161907 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 47161907 47161907 T - DEL SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_del c.4219 p.R1407fs 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 139 0 0 99 24 19.5122 CELSR3 0 genome.wustl.edu 37 3 48699915 48699915 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 48699915 48699915 C - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.153 p.P52fs 0.021 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 68 0 0 39 5 11.3636 IP6K2 0 genome.wustl.edu 37 3 48730461 48730461 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 48730461 48730461 T - DEL IP6K2 ENST00000328631 human ensembl 74_37 -1 known frame_shift_del c.354 p.K118fs 0.999 NULL pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 734 0 0 480 107 18.2283 MST1R 0 genome.wustl.edu 37 3 49940944 49940944 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 49940944 49940944 G - DEL MST1R ENST00000296474 human ensembl 74_37 -1 known frame_shift_del c.99 p.Y34fs 0.026 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 113 0 0 70 14 16.6667 DNAH1 0 genome.wustl.edu 37 3 52402790 52402790 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52402790 52402790 G - DEL DNAH1 ENST00000420323 human ensembl 74_37 +1 known frame_shift_del c.5799 p.A1935fs 0.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 255 0 0 177 24 11.9403 STAB1 0 genome.wustl.edu 37 3 52546401 52546401 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52546401 52546401 C - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.2928 p.P978fs 0.997 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 220 0 0 141 20 12.4224 STAB1 0 genome.wustl.edu 37 3 52551026 52551026 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52551026 52551026 G - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.4390 p.G1465fs 0.999 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 116 0 0 77 13 14.4444 PBRM1 0 genome.wustl.edu 37 3 52643790 52643791 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52643790 52643791 - T INS PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_ins c.2106_2105 p.P703fs 1.000:1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 293 0 0 231 45 16.3043 PBRM1 0 genome.wustl.edu 37 3 52643942 52643943 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 52643942 52643943 - T INS PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_ins c.1954_1953 p.S651fs 1.000:1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 365 0 0 256 63 19.7492 FLNB 0 genome.wustl.edu 37 3 58089788 58089788 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58089788 58089788 G - DEL FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_del c.1586 p.G531fs 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 120 0 0 76 13 14.6067 ACOX2 0 genome.wustl.edu 37 3 58510265 58510266 + Frame_Shift_Del DEL GA GA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 58510265 58510266 GA - DEL ACOX2 ENST00000302819 human ensembl 74_37 -1 known frame_shift_del c.1414_1413 p.P472fs 0.063:0.059 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 143 0 0 92 8 8 PROK2 0 genome.wustl.edu 37 3 71821968 71821968 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 71821968 71821968 A - DEL PROK2 ENST00000295619 human ensembl 74_37 -1 known frame_shift_del c.297 p.F99fs 0.619 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK2 HGNC ENSG00000163421 123 0 0 110 15 12 ROBO1 0 genome.wustl.edu 37 3 78710235 78710235 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 3 78710235 78710235 A - DEL ROBO1 ENST00000464233 human ensembl 74_37 -1 known frame_shift_del c.2265 p.F755fs 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 58 0 0 50 8 13.7931 PPP3CA 0 genome.wustl.edu 37 4 102001725 102001725 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 102001725 102001725 A - DEL PPP3CA ENST00000394854 human ensembl 74_37 -1 known frame_shift_del c.919 p.S307fs 1.000 smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 136 0 0 93 18 16.2162 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 92 0 0 58 13 18.3099 KIAA1109 0 genome.wustl.edu 37 4 123109176 123109176 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 123109176 123109176 G - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.754 p.G252fs 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 146 0 0 123 21 14.5833 FAT4 0 genome.wustl.edu 37 4 126389840 126389840 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 126389840 126389840 T - DEL FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_del c.12073 p.L4026fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 195 0 0 160 45 21.9512 PCDH10 0 genome.wustl.edu 37 4 134071649 134071649 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 134071649 134071649 C - DEL PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_del c.354 p.S121fs 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 125 0 0 94 14 12.963 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 142143532 142143532 A - DEL ZNF330 ENST00000262990 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 87 0 0 59 8 11.9403 LRBA 0 genome.wustl.edu 37 4 151788975 151788975 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 151788975 151788975 A - DEL LRBA ENST00000357115 human ensembl 74_37 -1 known frame_shift_del c.2614 p.S872fs 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 380 0 0 249 47 15.8784 GALNT7 0 genome.wustl.edu 37 4 174242833 174242834 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 174242833 174242834 - A INS GALNT7 ENST00000265000 human ensembl 74_37 +1 known frame_shift_ins c.1939_1940 p.W649fs 1.000:1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 117 0 0 94 20 17.5439 FAT1 0 genome.wustl.edu 37 4 187630605 187630605 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 187630605 187630605 T - DEL FAT1 ENST00000441802 human ensembl 74_37 -1 known frame_shift_del c.377 p.N126fs 0.246 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 318 0 0 217 48 18.1132 WHSC1 0 genome.wustl.edu 37 4 1978235 1978235 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 1978235 1978235 A - DEL WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_del c.3655 p.K1220fs 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 54 0 0 27 10 27.027 GRK4 0 genome.wustl.edu 37 4 2986251 2986251 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 2986251 2986251 A - DEL GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_del c.64 p.S24fs 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 137 0 0 93 22 19.1304 HTT 0 genome.wustl.edu 37 4 3133117 3133117 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 3133117 3133117 A - DEL HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_del c.2091 p.N699fs 0.273 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 106 0 0 68 13 16.0494 EVC 0 genome.wustl.edu 37 4 5806486 5806486 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 5806486 5806486 A - DEL EVC ENST00000264956 human ensembl 74_37 +1 known frame_shift_del c.2479 p.K828fs 0.136 NULL NULL - no_errors EVC HGNC ENSG00000072840 85 0 0 80 11 12.0879 MRPL1 0 genome.wustl.edu 37 4 78804445 78804445 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 78804445 78804445 A - DEL MRPL1 ENST00000315567 human ensembl 74_37 +1 known frame_shift_del c.193 p.D67fs 0.903 NULL pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,tigrfam_Ribosomal_L1_mit - no_errors MRPL1 HGNC ENSG00000169288 84 0 0 53 13 19.697 HELQ 0 genome.wustl.edu 37 4 84350768 84350768 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 84350768 84350768 T - DEL HELQ ENST00000295488 human ensembl 74_37 -1 known frame_shift_del c.2427 p.G810fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 113 0 0 113 26 18.705 AFF1 0 genome.wustl.edu 37 4 88047293 88047293 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 88047293 88047293 C - DEL AFF1 ENST00000395146 human ensembl 74_37 +1 known frame_shift_del c.2616 p.P874fs 0.124 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 177 0 0 109 21 16.1538 MEPE 0 genome.wustl.edu 37 4 88766707 88766708 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 88766707 88766708 - A INS MEPE ENST00000361056 human ensembl 74_37 +1 known frame_shift_ins c.687_688 p.I231fs 0.000:0.000 pfam_Osteoregulin pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 186 0 0 110 14 11.2903 HERC6 0 genome.wustl.edu 37 4 89349778 89349778 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 89349778 89349778 A - DEL HERC6 ENST00000264346 human ensembl 74_37 +1 known frame_shift_del c.1982 p.K663fs 0.001 superfamily_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 49 0 0 37 7 15.9091 HERC3 0 genome.wustl.edu 37 4 89585357 89585357 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 89585357 89585357 A - DEL HERC3 ENST00000264345 human ensembl 74_37 +1 known frame_shift_del c.1325 p.I445fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 274 0 0 171 37 17.7885 SMARCAD1 0 genome.wustl.edu 37 4 95173910 95173910 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 4 95173910 95173910 A - DEL SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known frame_shift_del c.1033 p.N347fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 87 0 0 64 12 15.7895 SLC12A7 0 genome.wustl.edu 37 5 1074698 1074698 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 1074698 1074698 G - DEL SLC12A7 ENST00000264930 human ensembl 74_37 -1 known frame_shift_del c.2056 p.H686fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 81 0 0 64 10 13.5135 FER 0 genome.wustl.edu 37 5 108219101 108219101 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 108219101 108219101 A - DEL FER ENST00000281092 human ensembl 74_37 +1 known frame_shift_del c.928 p.T311fs 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 176 0 0 118 21 15.1079 MAN2A1 0 genome.wustl.edu 37 5 109117120 109117120 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 109117120 109117120 T - DEL MAN2A1 ENST00000261483 human ensembl 74_37 +1 known frame_shift_del c.1398 p.F468fs 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 99 0 0 65 15 18.75 STARD4 0 genome.wustl.edu 37 5 110836670 110836670 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 110836670 110836670 A - DEL STARD4 ENST00000502322 human ensembl 74_37 -1 putative frame_shift_del c.427 p.S143fs 0.011 NULL pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD4 HGNC ENSG00000164211 246 0 0 157 38 19.4872 AQPEP 0 genome.wustl.edu 37 5 115338562 115338562 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 115338562 115338562 A - DEL AQPEP ENST00000357872 human ensembl 74_37 +1 known frame_shift_del c.1851 p.N619fs 0.981 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 139 0 0 68 12 15 PDLIM4 0 genome.wustl.edu 37 5 131606779 131606779 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 131606779 131606779 C - DEL PDLIM4 ENST00000253754 human ensembl 74_37 +1 known frame_shift_del c.499 p.S169fs 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 275 0 0 219 26 10.6122 IRF1 0 genome.wustl.edu 37 5 131822004 131822005 + Frame_Shift_Del DEL CA CA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 131822004 131822005 CA - DEL IRF1 ENST00000245414 human ensembl 74_37 -1 known frame_shift_del c.606_605 p.V202fs 0.975:0.967 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 140 0 0 108 15 12.1951 CDKL3 0 genome.wustl.edu 37 5 133634349 133634349 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 133634349 133634349 A - DEL CDKL3 ENST00000265334 human ensembl 74_37 -1 known frame_shift_del c.1772 p.F591fs 0.700 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL3 HGNC ENSG00000006837 204 0 0 124 29 18.9542 DNAH5 0 genome.wustl.edu 37 5 13753633 13753633 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 13753633 13753633 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.10581 p.L3528fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 235 0 0 171 25 12.7551 HARS 0 genome.wustl.edu 37 5 140057538 140057538 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140057538 140057538 C - DEL HARS ENST00000504156 human ensembl 74_37 -1 known frame_shift_del c.585 p.M195fs 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 71 0 0 42 7 14.2857 PCDHA3 0 genome.wustl.edu 37 5 140181370 140181371 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 140181370 140181371 - A INS PCDHA3 ENST00000522353 human ensembl 74_37 +1 known frame_shift_ins c.588_589 p.N198fs 0.860:0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 160 0 0 119 27 18.4932 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 100 0 0 55 10 15.3846 RBM27 0 genome.wustl.edu 37 5 145647320 145647321 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 145647320 145647321 AA - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440_2441 p.K816fs 1.000:1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 157 0 0 111 25 18.3824 TCERG1 0 genome.wustl.edu 37 5 145886723 145886724 + Frame_Shift_Del DEL AA AA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 145886723 145886724 AA - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863_2864 p.K957fs 1.000:1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 229 0 0 175 22 11.1675 TCERG1 0 genome.wustl.edu 37 5 145887465 145887465 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 145887465 145887465 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2940 p.I983fs 0.686 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 89 0 0 64 12 15.7895 FAT2 0 genome.wustl.edu 37 5 150905452 150905452 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 150905452 150905452 G - DEL FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_del c.10383 p.Y3462fs 0.841 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 94 0 0 79 9 10.2273 GABRB2 0 genome.wustl.edu 37 5 160757965 160757965 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 160757965 160757965 C - DEL GABRB2 ENST00000274547 human ensembl 74_37 -1 known frame_shift_del c.1002 p.Q336fs 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 214 0 0 208 26 11.1111 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 175 0 0 145 22 13.1737 SH3PXD2B 0 genome.wustl.edu 37 5 171774309 171774309 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 171774309 171774309 G - DEL SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known frame_shift_del c.1040 p.P347fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 103 0 0 69 10 12.6582 CREBRF 0 genome.wustl.edu 37 5 172517887 172517887 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 172517887 172517887 A - DEL CREBRF ENST00000540014 human ensembl 74_37 +1 known frame_shift_del c.705 p.K237fs 0.141 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 136 0 0 89 24 21.2389 PHYKPL 0 genome.wustl.edu 37 5 177651540 177651540 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 177651540 177651540 C - DEL PHYKPL ENST00000308158 human ensembl 74_37 -1 known frame_shift_del c.527 p.G176fs 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 94 0 0 72 15 17.2414 ZNF354A 0 genome.wustl.edu 37 5 178140425 178140425 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 178140425 178140425 T - DEL ZNF354A ENST00000335815 human ensembl 74_37 -1 known frame_shift_del c.454 p.I152fs 0.326 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 549 0 0 356 75 17.4014 GRM6 0 genome.wustl.edu 37 5 178418555 178418555 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 178418555 178418555 C - DEL GRM6 ENST00000231188 human ensembl 74_37 -1 known frame_shift_del c.727 p.V243fs 0.986 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 279 0 0 169 21 11.0526 HNRNPH1 0 genome.wustl.edu 37 5 179050041 179050041 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 179050041 179050041 A - DEL HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known frame_shift_del c.94 p.S32fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 76 0 0 55 12 17.9104 BTNL8 0 genome.wustl.edu 37 5 180374580 180374580 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 180374580 180374580 T - DEL BTNL8 ENST00000340184 human ensembl 74_37 +1 known frame_shift_del c.742 p.F249fs 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 820 0 0 525 111 17.4528 IRX4 0 genome.wustl.edu 37 5 1880905 1880905 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 1880905 1880905 C - DEL IRX4 ENST00000231357 human ensembl 74_37 -1 known frame_shift_del c.341 p.G114fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 82 0 0 63 14 18.1818 C5orf22 0 genome.wustl.edu 37 5 31538754 31538754 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 31538754 31538754 T - DEL C5orf22 ENST00000325366 human ensembl 74_37 +1 known frame_shift_del c.765 p.S258fs 1.000 superfamily_ICAT superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 116 0 0 90 14 13.4615 PDZD2 0 genome.wustl.edu 37 5 32087982 32087982 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 32087982 32087982 G - DEL PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_del c.4428 p.G1478fs 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 21 0 0 26 6 18.75 RICTOR 0 genome.wustl.edu 37 5 38975672 38975672 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 38975672 38975672 T - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.856 p.M286fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 104 0 0 83 11 11.7021 MROH2B 0 genome.wustl.edu 37 5 41004528 41004528 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 41004528 41004528 T - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.4114 p.I1372fs 0.954 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 215 0 0 171 27 13.6364 PARP8 0 genome.wustl.edu 37 5 50123859 50123859 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 50123859 50123859 A - DEL PARP8 ENST00000281631 human ensembl 74_37 +1 known frame_shift_del c.2059 p.K688fs 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 193 0 0 147 19 11.4458 SLC38A9 0 genome.wustl.edu 37 5 54948375 54948375 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 54948375 54948375 A - DEL SLC38A9 ENST00000318672 human ensembl 74_37 -1 known frame_shift_del c.934 p.S312fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 47 0 0 39 13 25 MAP3K1 0 genome.wustl.edu 37 5 56178088 56178089 + Frame_Shift_Del DEL AC AC - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 56178088 56178089 AC - DEL MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel frame_shift_del c.3061_3062 p.Q1022fs 0.785:0.785 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 152 0 0 130 24 15.5844 PLK2 0 genome.wustl.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 57753012 57753012 A - DEL PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_del c.1004 p.L335fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 98 0 0 88 12 12 PIK3R1 0 genome.wustl.edu 37 5 67522741 67522741 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 67522741 67522741 A - DEL PIK3R1 ENST00000396611 human ensembl 74_37 +1 known frame_shift_del c.238 p.I82fs 1.000 superfamily_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 131 0 0 80 15 15.7895 PIK3R1 0 genome.wustl.edu 37 5 67576486 67576487 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 67576486 67576487 - A INS PIK3R1 ENST00000396611 human ensembl 74_37 +1 known frame_shift_ins c.765_766 p.N256fs 1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 227 0 0 169 39 18.75 PMCHL2 0 genome.wustl.edu 37 5 70671642 70671643 + RNA INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 70671642 70671643 - A INS PMCHL2 ENST00000415808 human ensembl 74_37 +1 known rna NULL NULL 0.540:0.548 - - - no_errors PMCHL2 HGNC ENSG00000169040 21 0 0 21 7 25 CMYA5 0 genome.wustl.edu 37 5 79034435 79034436 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79034435 79034436 - G INS CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_ins c.9847_9848 p.F3286fs 0.351:0.774 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 158 0 0 130 19 12.7517 ANKRD34B 0 genome.wustl.edu 37 5 79854405 79854405 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79854405 79854405 T - DEL ANKRD34B ENST00000338682 human ensembl 74_37 -1 known frame_shift_del c.1434 p.V479fs 0.163 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ENSG00000189127 360 0 0 245 60 19.6721 ANKRD34B 0 genome.wustl.edu 37 5 79854592 79854592 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 79854592 79854592 G - DEL ANKRD34B ENST00000338682 human ensembl 74_37 -1 known frame_shift_del c.1247 p.P416fs 0.100 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ENSG00000189127 217 0 0 188 25 11.7371 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 190 0 0 131 32 19.6319 FAM81B 0 genome.wustl.edu 37 5 94784099 94784099 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 5 94784099 94784099 A - DEL FAM81B ENST00000283357 human ensembl 74_37 +1 known frame_shift_del c.1156 p.K387fs 0.977 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 89 0 0 71 13 15.4762 PREP 0 genome.wustl.edu 37 6 105736713 105736713 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 105736713 105736713 T - DEL PREP ENST00000369110 human ensembl 74_37 -1 known frame_shift_del c.1374 p.G459fs 0.998 NULL pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 159 0 0 120 24 16.6667 KIAA1919 0 genome.wustl.edu 37 6 111587480 111587480 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 111587480 111587480 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.715 p.Y241fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 147 0 0 110 16 12.6984 MARCKS 0 genome.wustl.edu 37 6 114181729 114181730 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 114181729 114181730 - C INS MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_ins c.973_974 p.A328fs 1.000:0.999 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 124 0 0 84 19 18.4466 HIVEP1 0 genome.wustl.edu 37 6 12164369 12164370 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 12164369 12164370 - A INS HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_ins c.7832_7833 p.V2614fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 61 0 0 64 15 18.9873 KIAA0408 0 genome.wustl.edu 37 6 127768353 127768353 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 127768353 127768353 T - DEL KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel frame_shift_del c.1111 p.R371fs 0.043 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 324 0 0 238 46 16.1972 PTPRK 0 genome.wustl.edu 37 6 128326374 128326374 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 128326374 128326374 T - DEL PTPRK ENST00000368227 human ensembl 74_37 -1 known frame_shift_del c.2349 p.K783fs 0.996 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 103 0 0 132 16 10.8108 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 145 0 0 133 15 10.1351 AHI1 0 genome.wustl.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - TT TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 135784283 135784284 - TT INS AHI1 ENST00000265602 human ensembl 74_37 -1 known frame_shift_ins c.911_910 p.T304fs 0.016:0.034 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 146 0 0 96 20 17.2414 MAP3K5 0 genome.wustl.edu 37 6 136943991 136943992 + Frame_Shift_Ins INS - - TC TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 136943991 136943992 - TC INS MAP3K5 ENST00000359015 human ensembl 74_37 -1 known frame_shift_ins c.2145_2144 p.D715fs 0.985:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 491 0 0 355 59 14.2512 RNF182 0 genome.wustl.edu 37 6 13977682 13977682 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 13977682 13977682 C - DEL RNF182 ENST00000488300 human ensembl 74_37 +1 known frame_shift_del c.332 p.K113fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 80 0 0 90 17 15.8879 PLEKHG1 0 genome.wustl.edu 37 6 151153218 151153218 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 151153218 151153218 A - DEL PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known frame_shift_del c.2971 p.N991fs 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 196 0 0 126 28 18.1818 AKAP12 0 genome.wustl.edu 37 6 151672364 151672365 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 151672364 151672365 - C INS AKAP12 ENST00000253332 human ensembl 74_37 +1 known frame_shift_ins c.2838_2839 p.T948fs 0.005:0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 145 0 0 103 18 14.876 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 66 0 0 50 21 29.5775 ERMARD 0 genome.wustl.edu 37 6 170160061 170160062 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 170160061 170160062 - T INS ERMARD ENST00000366773 human ensembl 74_37 +1 known frame_shift_ins c.733_734 p.P247fs 0.511:0.960 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 267 0 0 174 28 13.8614 KIF13A 0 genome.wustl.edu 37 6 17837308 17837308 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 17837308 17837308 C - DEL KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_del c.956 p.G319fs 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 227 0 0 170 39 18.6603 PPP1R11 0 genome.wustl.edu 37 6 30037082 30037082 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30037082 30037082 A - DEL PPP1R11 ENST00000376772 human ensembl 74_37 +1 known frame_shift_del c.380 p.*127fs 1.000 NULL pfam_PPI_Ypi1 - no_errors PPP1R11 HGNC ENSG00000204619 128 0 0 90 10 10 DDR1 0 genome.wustl.edu 37 6 30864570 30864571 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 30864570 30864571 - C INS DDR1 ENST00000376575 human ensembl 74_37 +1 known frame_shift_ins c.1797_1798 p.R601fs 0.961:0.997 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 141 0 0 141 9 6 HLA-B 0 genome.wustl.edu 37 6 31323362 31323363 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31323362 31323363 - G INS HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_ins c.627_626 p.T211fs 0.002:0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 285 0 0 207 40 16.1943 NFKBIL1 0 genome.wustl.edu 37 6 31525506 31525506 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31525506 31525506 C - DEL NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known frame_shift_del c.436 p.W148fs 0.998 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 90 0 0 52 13 20 TNF 0 genome.wustl.edu 37 6 31543582 31543582 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31543582 31543582 G - DEL TNF ENST00000449264 human ensembl 74_37 +1 known frame_shift_del c.64 p.Q25fs 0.022 prints_TNF_alpha pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF - no_errors TNF HGNC ENSG00000232810 154 0 0 129 23 15.1316 TNF 0 genome.wustl.edu 37 6 31544976 31544984 + In_Frame_Del DEL AACCAGCTG AACCAGCTG - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 AACCAGCTG AACCAGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31544976 31544984 AACCAGCTG - DEL TNF ENST00000449264 human ensembl 74_37 +1 known in_frame_del c.364_372 p.NQL122in_frame_del 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF - no_errors TNF HGNC ENSG00000232810 166 0 0 140 15 9.67742 BAG6 0 genome.wustl.edu 37 6 31617054 31617055 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 31617054 31617055 - G INS BAG6 ENST00000404765 human ensembl 74_37 -1 known frame_shift_ins c.345_344 p.G116fs 0.996:0.993 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 185 0 0 166 25 13.089 RPL10A 0 genome.wustl.edu 37 6 35437285 35437285 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 35437285 35437285 A - DEL RPL10A ENST00000322203 human ensembl 74_37 +1 known frame_shift_del c.289 p.K98fs 1.000 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1 - no_errors RPL10A HGNC ENSG00000198755 35 0 0 34 6 15 STK38 0 genome.wustl.edu 37 6 36463593 36463593 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 36463593 36463593 C - DEL STK38 ENST00000229812 human ensembl 74_37 -1 known frame_shift_del c.1366 p.A456fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 200 0 0 133 29 17.9012 DNAH8 0 genome.wustl.edu 37 6 38738314 38738314 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 38738314 38738314 T - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.1092 p.C366fs 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 110 0 0 66 14 17.5 TREML2 0 genome.wustl.edu 37 6 41166037 41166039 + In_Frame_Del DEL CTT CTT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 41166037 41166039 CTT - DEL TREML2 ENST00000483722 human ensembl 74_37 -1 known in_frame_del c.186_184 p.K62in_frame_del 0.206:0.051:0.063 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors TREML2 HGNC ENSG00000112195 388 0 0 259 43 14.2384 FRS3 0 genome.wustl.edu 37 6 41739249 41739249 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 41739249 41739249 G - DEL FRS3 ENST00000259748 human ensembl 74_37 -1 known frame_shift_del c.587 p.P196fs 0.843 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 115 0 0 73 16 17.9775 GLTSCR1L 0 genome.wustl.edu 37 6 42832627 42832627 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 42832627 42832627 A - DEL GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known frame_shift_del c.2683 p.T897fs 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 74 0 0 64 17 20.9877 TTBK1 0 genome.wustl.edu 37 6 43251480 43251480 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 43251480 43251480 C - DEL TTBK1 ENST00000259750 human ensembl 74_37 +1 known frame_shift_del c.3002 p.R1003fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 44 0 0 40 6 13.0435 RUNX2 0 genome.wustl.edu 37 6 45390355 45390355 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 45390355 45390355 C - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.288 p.S99fs 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 54 0 0 32 3 8.57143 CYP39A1 0 genome.wustl.edu 37 6 46607340 46607340 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 46607340 46607340 T - DEL CYP39A1 ENST00000275016 human ensembl 74_37 -1 known frame_shift_del c.379 p.M127fs 0.983 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 160 0 0 101 26 20.4724 CENPQ 0 genome.wustl.edu 37 6 49438701 49438702 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 49438701 49438702 - A INS CENPQ ENST00000335783 human ensembl 74_37 +1 known frame_shift_ins c.117_118 p.N41fs 0.002:0.806 NULL NULL - no_errors CENPQ HGNC ENSG00000031691 122 0 0 86 22 20.3704 CDYL 0 genome.wustl.edu 37 6 4943960 4943961 + Frame_Shift_Del DEL TA TA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 4943960 4943961 TA - DEL CDYL ENST00000328908 human ensembl 74_37 +1 known frame_shift_del c.1464_1465 p.M489fs 0.993:1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 202 0 0 152 20 11.6279 EFHC1 0 genome.wustl.edu 37 6 52334208 52334208 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 52334208 52334208 A - DEL EFHC1 ENST00000371068 human ensembl 74_37 +1 known frame_shift_del c.1215 p.D408fs 0.140 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 317 0 0 256 61 19.2429 GSTA2 0 genome.wustl.edu 37 6 52616454 52616455 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 52616454 52616455 - C INS GSTA2 ENST00000493422 human ensembl 74_37 -1 known frame_shift_ins c.467_466 p.A156fs 1.000:1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC ENSG00000244067 233 0 0 162 36 18.1818 PHF3 0 genome.wustl.edu 37 6 64394219 64394219 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 64394219 64394219 G - DEL PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_del c.596 p.R199fs 0.991 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 213 0 0 145 31 17.6136 FILIP1 0 genome.wustl.edu 37 6 76023993 76023993 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 76023993 76023993 T - DEL FILIP1 ENST00000237172 human ensembl 74_37 -1 known frame_shift_del c.1555 p.I519fs 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 183 0 0 148 25 14.4509 SENP6 0 genome.wustl.edu 37 6 76369098 76369099 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 76369098 76369099 - A INS SENP6 ENST00000370014 human ensembl 74_37 +1 known frame_shift_ins c.671_672 p.C227fs 1.000:1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 97 0 0 60 21 25.9259 ZNF292 0 genome.wustl.edu 37 6 87967280 87967280 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 87967280 87967280 G - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.3933 p.G1313fs 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 29 0 0 21 6 22.2222 ZNF292 0 genome.wustl.edu 37 6 87970974 87970974 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 87970974 87970974 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.7627 p.R2545fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 78 0 0 58 6 9.375 RARS2 0 genome.wustl.edu 37 6 88229955 88229955 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 88229955 88229955 T - DEL RARS2 ENST00000369536 human ensembl 74_37 -1 known frame_shift_del c.1055 p.K352fs 0.001 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC ENSG00000146282 424 0 0 253 40 13.6519 POU3F2 0 genome.wustl.edu 37 6 99283815 99283815 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 99283815 99283815 A - DEL POU3F2 ENST00000328345 human ensembl 74_37 +1 known frame_shift_del c.1066 p.K357fs 1.000 pirsf_Transcription_factor_POU,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 153 0 0 111 15 11.9048 USP45 0 genome.wustl.edu 37 6 99936572 99936572 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 6 99936572 99936572 A - DEL USP45 ENST00000327681 human ensembl 74_37 -1 known frame_shift_del c.603 p.F201fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 277 0 0 218 34 13.4921 AP1S1 0 genome.wustl.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 100802404 100802405 - G INS AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_ins c.356_357 p.D122fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 51 0 0 44 5 10.2041 PUS7 0 genome.wustl.edu 37 7 105148916 105148917 + Frame_Shift_Ins INS - - C TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 105148916 105148917 - C INS PUS7 ENST00000356362 human ensembl 74_37 -1 known frame_shift_ins c.44_43 p.A15fs 0.003:0.007 pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 247 0 0 205 26 11.2554 PHF14 0 genome.wustl.edu 37 7 11022426 11022426 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 11022426 11022426 A - DEL PHF14 ENST00000403050 human ensembl 74_37 +1 known frame_shift_del c.540 p.K182fs 0.990 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 72 0 0 52 8 13.3333 LRRN3 0 genome.wustl.edu 37 7 110764636 110764637 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 110764636 110764637 - A INS LRRN3 ENST00000308478 human ensembl 74_37 +1 known frame_shift_ins c.1808_1809 p.C606fs 0.979:0.978 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 111 0 0 75 36 32.4324 ST7 0 genome.wustl.edu 37 7 116771955 116771956 + Frame_Shift_Del DEL GA GA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 116771955 116771956 GA - DEL ST7 ENST00000265437 human ensembl 74_37 +1 known frame_shift_del c.582_583 p.R197fs 1.000:1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 185 0 0 111 19 14.6154 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 70 0 0 60 13 17.8082 GRM8 0 genome.wustl.edu 37 7 126173278 126173278 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 126173278 126173278 G - DEL GRM8 ENST00000339582 human ensembl 74_37 -1 known frame_shift_del c.2158 p.H720fs 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 65 0 0 50 11 18.0328 SND1 0 genome.wustl.edu 37 7 127724828 127724828 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 127724828 127724828 C - DEL SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_del c.2163 p.P723fs 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 86 0 0 62 12 16.2162 CCDC136 0 genome.wustl.edu 37 7 128451944 128451944 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 128451944 128451944 G - DEL CCDC136 ENST00000297788 human ensembl 74_37 +1 known frame_shift_del c.2119 p.R708fs 0.142 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 146 0 0 98 17 14.7826 NUP205 0 genome.wustl.edu 37 7 135258404 135258404 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 135258404 135258404 A - DEL NUP205 ENST00000285968 human ensembl 74_37 +1 known frame_shift_del c.174 p.N60fs 0.964 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 95 0 0 79 15 15.9574 KIAA1549 0 genome.wustl.edu 37 7 138603524 138603524 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 138603524 138603524 A - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known frame_shift_del c.848 p.L283fs 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 61 0 0 66 16 19.5122 ETV1 0 genome.wustl.edu 37 7 13975472 13975473 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 13975472 13975473 - G INS ETV1 ENST00000405218 human ensembl 74_37 -1 known frame_shift_ins c.415_414 p.T138fs 0.999:0.466 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 153 0 0 131 17 11.4865 AGK 0 genome.wustl.edu 37 7 141301025 141301025 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 141301025 141301025 A - DEL AGK ENST00000355413 human ensembl 74_37 +1 known frame_shift_del c.242 p.N83fs 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 147 0 0 114 12 9.52381 INTS1 0 genome.wustl.edu 37 7 1527082 1527082 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 1527082 1527082 C - DEL INTS1 ENST00000389470 human ensembl 74_37 -1 known frame_shift_del c.2949 p.R986fs 0.318 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 29 0 0 12 6 33.3333 PAXIP1 0 genome.wustl.edu 37 7 154782740 154782740 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 154782740 154782740 A - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known frame_shift_del c.300 p.F100fs 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 12 0 0 6 4 40 WDR60 0 genome.wustl.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 158704353 158704353 A - DEL WDR60 ENST00000407559 human ensembl 74_37 +1 known frame_shift_del c.1573 p.N527fs 0.958 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 170 0 0 140 31 18.1287 TSPAN13 0 genome.wustl.edu 37 7 16815998 16815998 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 16815998 16815998 T - DEL TSPAN13 ENST00000262067 human ensembl 74_37 +1 known frame_shift_del c.226 p.Y78fs 0.999 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 202 0 0 147 28 16 ABCB5 0 genome.wustl.edu 37 7 20698693 20698693 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 20698693 20698693 C - DEL ABCB5 ENST00000443026 human ensembl 74_37 +1 known frame_shift_del c.377 p.R128fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase - no_errors ABCB5 HGNC ENSG00000004846 329 0 0 261 44 14.4262 HOXA1 0 genome.wustl.edu 37 7 27135357 27135357 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 27135357 27135357 C - DEL HOXA1 ENST00000343060 human ensembl 74_37 -1 known frame_shift_del c.175 p.V59fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 57 0 0 38 13 25.4902 CDK13 0 genome.wustl.edu 37 7 40041476 40041476 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 40041476 40041476 A - DEL CDK13 ENST00000181839 human ensembl 74_37 +1 known frame_shift_del c.2199 p.V736fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 253 0 0 147 40 21.3904 ABCA13 0 genome.wustl.edu 37 7 48391812 48391813 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 48391812 48391813 - T INS ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_ins c.10416_10417 p.R3473fs 0.000:0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 237 0 0 156 37 19.171 DDC 0 genome.wustl.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 50531075 50531075 T - DEL DDC ENST00000357936 human ensembl 74_37 -1 known frame_shift_del c.1297 p.I433fs 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 95 0 0 71 20 21.978 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 76 0 0 82 10 10.8696 AKAP9 0 genome.wustl.edu 37 7 91709345 91709345 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 91709345 91709345 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.7934 p.N2647fs 0.858 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 142 0 0 101 26 20.4724 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 113 0 0 93 20 17.6991 DLX6 0 genome.wustl.edu 37 7 96639185 96639185 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 96639185 96639185 C - DEL DLX6 ENST00000518156 human ensembl 74_37 +1 known frame_shift_del c.708 p.L238fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 68 0 0 81 26 24.2991 ZKSCAN5 0 genome.wustl.edu 37 7 99129417 99129418 + Frame_Shift_Ins INS - - A TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 7 99129417 99129418 - A INS ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_ins c.2065_2066 p.N691fs 0.016:0.005 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 242 0 0 186 35 15.8371 FBXO43 0 genome.wustl.edu 37 8 101154105 101154105 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 101154105 101154105 T - DEL FBXO43 ENST00000428847 human ensembl 74_37 -1 known frame_shift_del c.377 p.K126fs 0.005 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 312 0 0 192 48 20 RIMS2 0 genome.wustl.edu 37 8 104898242 104898242 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 104898242 104898242 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.1415 p.M474fs 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 113 0 0 95 13 12.037 SOX7 0 genome.wustl.edu 37 8 10583646 10583646 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 10583646 10583646 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.925 p.L309fs 0.665 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 78 0 0 35 6 14.6341 PKHD1L1 0 genome.wustl.edu 37 8 110432893 110432893 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 110432893 110432893 C - DEL PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known frame_shift_del c.2671 p.M892fs 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 296 0 0 205 26 11.2554 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 158 0 0 99 21 17.5 TRPS1 0 genome.wustl.edu 37 8 116599584 116599585 + Frame_Shift_Del DEL TC TC - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 116599584 116599585 TC - DEL TRPS1 ENST00000395715 human ensembl 74_37 -1 known frame_shift_del c.2344_2343 p.K782fs 1.000:1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 783 0 0 582 91 13.5215 TRPS1 0 genome.wustl.edu 37 8 116631856 116631857 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 116631856 116631857 - G INS TRPS1 ENST00000395715 human ensembl 74_37 -1 known frame_shift_ins c.469_468 p.S156fs 0.951:0.959 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 154 0 0 140 19 11.9497 ZHX2 0 genome.wustl.edu 37 8 123965055 123965055 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 123965055 123965055 C - DEL ZHX2 ENST00000314393 human ensembl 74_37 +1 known frame_shift_del c.1305 p.P437fs 0.003 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 47 0 0 37 11 22.9167 ASAP1 0 genome.wustl.edu 37 8 131073124 131073125 + Frame_Shift_Ins INS - - G TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 131073124 131073125 - G INS ASAP1 ENST00000357668 human ensembl 74_37 -1 known frame_shift_ins c.2893_2892 p.K964fs 0.998:0.043 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 233 0 0 179 34 15.9624 EPPK1 0 genome.wustl.edu 37 8 144941378 144941378 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 144941378 144941378 C - DEL EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_del c.6044 p.G2015fs 0.996 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 27 0 0 36 4 10 GRINA 0 genome.wustl.edu 37 8 145065457 145065457 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145065457 145065457 G - DEL GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_del c.66 p.26fs 0.997 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 45 0 0 27 5 15.625 OPLAH 0 genome.wustl.edu 37 8 145112931 145112931 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145112931 145112931 C - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.1070 p.G357fs 1.000 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 53 0 0 55 8 12.6984 FBXL6 0 genome.wustl.edu 37 8 145580194 145580194 + RNA DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 145580194 145580194 G - DEL FBXL6 ENST00000524909 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors FBXL6 HGNC ENSG00000182325 90 0 0 87 14 13.8614 DLGAP2 0 genome.wustl.edu 37 8 1497600 1497600 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 1497600 1497600 C - DEL DLGAP2 ENST00000421627 human ensembl 74_37 +1 known frame_shift_del c.741 p.D249fs 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 140 0 0 107 15 12.2951 ZDHHC2 0 genome.wustl.edu 37 8 17067923 17067924 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 17067923 17067924 - T INS ZDHHC2 ENST00000262096 human ensembl 74_37 +1 known frame_shift_ins c.884_885 p.C296fs 1.000:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC2 HGNC ENSG00000104219 109 0 0 69 14 16.8675 MTUS1 0 genome.wustl.edu 37 8 17611701 17611702 + Frame_Shift_Ins INS - - CA TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 17611701 17611702 - CA INS MTUS1 ENST00000262102 human ensembl 74_37 -1 known frame_shift_ins c.1616_1615 p.A539fs 0.031:0.029 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 565 0 0 364 90 19.8238 PIWIL2 0 genome.wustl.edu 37 8 22175773 22175773 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 22175773 22175773 A - DEL PIWIL2 ENST00000356766 human ensembl 74_37 +1 known frame_shift_del c.2388 p.K798fs 0.999 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 122 0 0 91 14 13.3333 ADAMDEC1 0 genome.wustl.edu 37 8 24249828 24249828 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 24249828 24249828 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.142 p.K49fs 0.959 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 136 0 0 114 20 14.9254 PLAG1 0 genome.wustl.edu 37 8 57079754 57079754 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 57079754 57079754 T - DEL PLAG1 ENST00000316981 human ensembl 74_37 -1 known frame_shift_del c.551 p.K184fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 123 0 0 120 17 12.4088 PENK 0 genome.wustl.edu 37 8 57354072 57354072 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 57354072 57354072 C - DEL PENK ENST00000314922 human ensembl 74_37 -1 known frame_shift_del c.563 p.G188fs 1.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 419 0 0 296 72 19.5652 CHD7 0 genome.wustl.edu 37 8 61778453 61778454 + Frame_Shift_Ins INS - - GG TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 61778453 61778454 - GG INS CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_ins c.8955_8956 p.D2987fs 0.760:1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 21 0 0 19 6 24 MCPH1 0 genome.wustl.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 6302639 6302639 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.1396 p.T468fs 0.010 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 150 0 0 116 16 12.1212 ZFHX4 0 genome.wustl.edu 37 8 77763477 77763477 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 77763477 77763477 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.4320 p.K1442fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 49 0 0 28 5 15.1515 POP1 0 genome.wustl.edu 37 8 99168468 99168468 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 8 99168468 99168468 A - DEL POP1 ENST00000349693 human ensembl 74_37 +1 known frame_shift_del c.2248 p.T752fs 0.001 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 221 0 0 154 37 19.3717 TMEM246 0 genome.wustl.edu 37 9 104239080 104239080 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 104239080 104239080 G - DEL TMEM246 ENST00000374847 human ensembl 74_37 -1 known frame_shift_del c.295 p.R99fs 0.966 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 69 0 0 47 5 9.61538 ZER1 0 genome.wustl.edu 37 9 131504980 131504980 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 131504980 131504980 G - DEL ZER1 ENST00000291900 human ensembl 74_37 -1 known frame_shift_del c.1404 p.E469fs 0.005 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 51 0 0 35 7 16.6667 NUP214 0 genome.wustl.edu 37 9 134003832 134003834 + In_Frame_Del DEL ATT ATT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 134003832 134003834 ATT - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known in_frame_del c.355_357 p.I120in_frame_del 0.998:1.000:0.987 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 276 0 0 214 27 11.2033 CAMSAP1 0 genome.wustl.edu 37 9 138713266 138713267 + Frame_Shift_Del DEL GA GA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 138713266 138713267 GA - DEL CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known frame_shift_del c.3274_3273 p.P1092fs 0.757:0.001 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 76 0 0 88 9 9.27835 TPRN 0 genome.wustl.edu 37 9 140086680 140086680 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 140086680 140086680 C - DEL TPRN ENST00000321773 human ensembl 74_37 -1 known frame_shift_del c.1921 p.E641fs 0.042 NULL NULL - no_errors TPRN HGNC ENSG00000176058 91 0 0 62 14 18.4211 PTPLAD2 0 genome.wustl.edu 37 9 21007046 21007046 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21007046 21007046 T - DEL PTPLAD2 ENST00000495827 human ensembl 74_37 -1 known frame_shift_del c.689 p.K230fs 1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLAD2 HGNC ENSG00000188921 238 0 0 140 31 18.1287 IFNE 0 genome.wustl.edu 37 9 21481472 21481472 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 21481472 21481472 T - DEL IFNE ENST00000448696 human ensembl 74_37 -1 known frame_shift_del c.222 p.G75fs 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 123 0 0 109 22 16.7939 DOCK8 0 genome.wustl.edu 37 9 332402 332402 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 332402 332402 A - DEL DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_del c.1049 p.V352fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 94 0 0 61 13 17.5676 NFX1 0 genome.wustl.edu 37 9 33294465 33294465 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 33294465 33294465 A - DEL NFX1 ENST00000379540 human ensembl 74_37 +1 known frame_shift_del c.73 p.N27fs 1.000 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 318 0 0 234 41 14.9091 FAM219A 0 genome.wustl.edu 37 9 34401028 34401028 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 34401028 34401028 G - DEL FAM219A ENST00000445726 human ensembl 74_37 -1 known frame_shift_del c.492 p.K165fs 0.999 NULL NULL - no_errors FAM219A HGNC ENSG00000164970 51 0 0 39 9 18.75 PLGRKT 0 genome.wustl.edu 37 9 5361787 5361787 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 5361787 5361787 A - DEL PLGRKT ENST00000223864 human ensembl 74_37 -1 known frame_shift_del c.183 p.F61fs 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 135 0 0 106 29 21.4815 VPS13A 0 genome.wustl.edu 37 9 79836219 79836219 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 79836219 79836219 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.1108 p.K372fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 200 1 0.497512 155 24 13.4078 VPS13A 0 genome.wustl.edu 37 9 79936099 79936099 + Frame_Shift_Del DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 79936099 79936099 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.5430 p.M1812fs 0.060 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 104 0 0 82 13 13.6842 ROR2 0 genome.wustl.edu 37 9 94487006 94487006 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 94487006 94487006 G - DEL ROR2 ENST00000375708 human ensembl 74_37 -1 known frame_shift_del c.1770 p.D591fs 0.005 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 57 0 0 47 4 7.84314 ROR2 0 genome.wustl.edu 37 9 94493292 94493292 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 94493292 94493292 C - DEL ROR2 ENST00000375708 human ensembl 74_37 -1 known frame_shift_del c.1083 p.H362fs 0.825 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 73 0 0 77 12 13.4831 WNK2 0 genome.wustl.edu 37 9 96019351 96019351 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 9 96019351 96019351 C - DEL WNK2 ENST00000297954 human ensembl 74_37 +1 known frame_shift_del c.2312 p.A773fs 0.864 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 21 0 0 16 6 27.2727 TAF7L 0 genome.wustl.edu 37 X 100538467 100538467 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 100538467 100538467 T - DEL TAF7L ENST00000372907 human ensembl 74_37 -1 known frame_shift_del c.508 p.T170fs 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 247 0 0 116 124 51.6667 CLCN4 0 genome.wustl.edu 37 X 10188763 10188763 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 10188763 10188763 C - DEL CLCN4 ENST00000380833 human ensembl 74_37 +1 known frame_shift_del c.2038 p.E682fs 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 110 0 0 66 25 27.4725 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 76 0 0 80 26 24.5283 ZNF75D 0 genome.wustl.edu 37 X 134421687 134421688 + Frame_Shift_Ins INS - - T TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 134421687 134421688 - T INS ZNF75D ENST00000370766 human ensembl 74_37 -1 known frame_shift_ins c.915_914 p.T306fs 0.000:0.000 pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 238 0 0 99 95 48.9691 MAGEC1 0 genome.wustl.edu 37 X 140995386 140995386 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 140995386 140995386 G - DEL MAGEC1 ENST00000285879 human ensembl 74_37 +1 known frame_shift_del c.2196 p.E734fs 0.191 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 276 0 0 162 141 46.5347 GLRA2 0 genome.wustl.edu 37 X 14548222 14548222 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 14548222 14548222 T - DEL GLRA2 ENST00000218075 human ensembl 74_37 +1 known frame_shift_del c.43 p.F16fs 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 121 0 0 79 27 25.4717 PRRG3 0 genome.wustl.edu 37 X 150869297 150869297 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 150869297 150869297 G - DEL PRRG3 ENST00000370353 human ensembl 74_37 +1 known frame_shift_del c.488 p.G165fs 0.000 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 23 0 0 30 9 23.0769 GABRQ 0 genome.wustl.edu 37 X 151821062 151821062 + Frame_Shift_Del DEL C C - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 151821062 151821062 C - DEL GABRQ ENST00000370306 human ensembl 74_37 +1 known frame_shift_del c.1217 p.L408fs 0.570 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 50 0 0 30 37 55.2239 TMEM187 0 genome.wustl.edu 37 X 153247940 153247941 + Frame_Shift_Del DEL CT CT - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 153247940 153247941 CT - DEL TMEM187 ENST00000369982 human ensembl 74_37 +1 known frame_shift_del c.427_428 p.L145fs 0.003:0.008 NULL NULL - no_errors TMEM187 HGNC ENSG00000177854 8 0 0 15 5 25 H2AFB1 0 genome.wustl.edu 37 X 154113626 154113626 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 154113626 154113626 T - DEL H2AFB1 ENST00000354461 human ensembl 74_37 +1 known frame_shift_del c.302 p.F102fs 0.306 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFB1 HGNC ENSG00000198082 106 0 0 103 15 12.7119 SH3KBP1 0 genome.wustl.edu 37 X 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 19560215 19560215 G - DEL SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known frame_shift_del c.1720 p.L574fs 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 56 0 0 34 24 41.3793 WAS 0 genome.wustl.edu 37 X 48545297 48545299 + In_Frame_Del DEL GAA GAA - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 48545297 48545299 GAA - DEL WAS ENST00000376701 human ensembl 74_37 +1 known in_frame_del c.687_689 p.K232in_frame_del 0.743:1.000:1.000 NULL pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 28 0 0 27 6 18.1818 SNORA11 0 genome.wustl.edu 37 X 54840820 54840820 + RNA DEL G G - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 54840820 54840820 G - DEL SNORA11 ENST00000408789 human ensembl 74_37 +1 known rna NULL NULL 0.475 - - - no_errors SNORA11 HGNC ENSG00000221716 117 0 0 75 82 52.2293 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 19 0 0 28 13 31.7073 RPS6KA6 0 genome.wustl.edu 37 X 83403063 83403063 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 83403063 83403063 T - DEL RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_del c.327 p.A110fs 0.992 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 74 0 0 37 44 54.321 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-CG-5721-01A-11D-1600-08 TCGA-CG-5721-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4ed0d81a-b61c-4b8f-b99f-bd3c40dcd61a 3622f6a0-d481-4c2b-874c-1e3965f39982 X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 33 0 0 28 31 52.5424