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 PALMD 0 genome.wustl.edu 37 1 100154541 100154541 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 100154541 100154541 T G SNP PALMD ENST00000263174 human ensembl 74_37 +1 known missense c.725 p.L242R 0.997 pfam_Paralemmin pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 223 0 0 112 12 9.67742 NTNG1 0 genome.wustl.edu 37 1 107937898 107937898 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 107937898 107937898 C G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.1010 p.P337R 1.000 pfam_EGF_laminin,smart_EGF_laminin 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 158 0 0 111 6 5.12821 NTNG1 0 genome.wustl.edu 37 1 107973474 107973474 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 107973474 107973474 A C SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.1190 p.E397A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom 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 46 0 0 38 5 11.6279 AKNAD1 0 genome.wustl.edu 37 1 109380261 109380261 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 109380261 109380261 T G SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.1447 p.S483R 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 102 0 0 94 27 22.314 CELSR2 0 genome.wustl.edu 37 1 109794583 109794583 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 109794583 109794583 A G SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1882 p.S628G 1.000 pfam_Cadherin,superfamily_Cadherin-like,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 221 0 0 113 9 7.37705 AHCYL1 0 genome.wustl.edu 37 1 110557426 110557426 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 110557426 110557426 T G SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.622 p.F208V 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 66 0 0 43 7 14 KCNA3 0 genome.wustl.edu 37 1 111216388 111216388 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 111216388 111216388 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.1044 p.A348 0.042 pfam_Ion_trans_dom 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 177 0 0 44 66 60 CEPT1 0 genome.wustl.edu 37 1 111690419 111690419 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 111690419 111690419 C T SNP CEPT1 ENST00000357172 human ensembl 74_37 +1 known missense c.83 p.T28I 1.000 NULL pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 94 0 0 75 5 6.25 SIKE1 0 genome.wustl.edu 37 1 115323092 115323092 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 115323092 115323092 G A SNP SIKE1 ENST00000369528 human ensembl 74_37 -1 known missense c.137 p.A46V 1.000 pfam_SIKE pfam_SIKE - no_errors SIKE1 HGNC ENSG00000052723 113 0 0 63 6 8.69565 VPS13D 0 genome.wustl.edu 37 1 12336689 12336689 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 12336689 12336689 A C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.3044 p.D1015A 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 143 0 0 144 23 13.7725 PRDM2 0 genome.wustl.edu 37 1 14106040 14106040 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 14106040 14106040 G C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1750 p.D584H 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 46 0 0 43 6 12.2449 ENSG00000203849 0 genome.wustl.edu 37 1 142726945 142726945 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 142726945 142726945 T G SNP ENSG00000203849 ENST00000610091 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 146 0 0 121 30 19.8675 HIST2H2AB 0 genome.wustl.edu 37 1 149859378 149859378 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 149859378 149859378 C G SNP HIST2H2AB ENST00000331128 human ensembl 74_37 -1 known missense c.89 p.R30P 0.997 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 165 0 0 186 17 8.37438 MTMR11 0 genome.wustl.edu 37 1 149905557 149905557 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 149905557 149905557 A C SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.806 p.L269R 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 115 0 0 137 36 20.8092 CTSS 0 genome.wustl.edu 37 1 150722509 150722509 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 150722509 150722509 G A SNP CTSS ENST00000368985 human ensembl 74_37 -1 known missense c.766 p.H256Y 0.217 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 CTSS HGNC ENSG00000163131 45 0 0 76 13 14.6067 SELENBP1 0 genome.wustl.edu 37 1 151338906 151338906 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 151338906 151338906 C T SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known missense c.814 p.V272I 0.988 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 208 0 0 297 31 9.45122 RPTN 0 genome.wustl.edu 37 1 152128952 152128952 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 152128952 152128952 T G SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.623 p.K208T 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 283 0 0 493 39 7.33083 FLG 0 genome.wustl.edu 37 1 152280726 152280726 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 152280726 152280726 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6636 p.E2212D 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 746 0 0 1103 88 7.38875 SPRR2F 0 genome.wustl.edu 37 1 153085145 153085145 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 153085145 153085145 T G SNP SPRR2F ENST00000468739 human ensembl 74_37 -1 known missense c.65 p.K22T 0.687 NULL NULL - no_errors SPRR2F HGNC ENSG00000244094 262 0 0 286 34 10.625 NUP210L 0 genome.wustl.edu 37 1 154030652 154030652 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 154030652 154030652 A C SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.3020 p.L1007R 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 133 0 0 227 24 9.56175 ATP8B2 0 genome.wustl.edu 37 1 154318828 154318828 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 154318828 154318828 T C SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2999 p.L1000P 1.000 tigrfam_ATPase_P-typ_Plipid-transp 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 ATP8B2 HGNC ENSG00000143515 130 0 0 141 21 12.963 PBXIP1 0 genome.wustl.edu 37 1 154918085 154918085 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 154918085 154918085 A C SNP PBXIP1 ENST00000542459 human ensembl 74_37 -1 known missense c.1600 p.F534V 1.000 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 145 0 0 198 18 8.33333 SYT11 0 genome.wustl.edu 37 1 155838114 155838114 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 155838114 155838114 A C SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known missense c.393 p.E131D 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 272 0 0 235 18 7.11462 SH2D2A 0 genome.wustl.edu 37 1 156779176 156779176 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 156779176 156779176 T G SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.851 p.K284T 0.096 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 273 1 0.364964 316 25 7.33138 INSRR 0 genome.wustl.edu 37 1 156812193 156812193 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 156812193 156812193 T C SNP INSRR ENST00000368195 human ensembl 74_37 -1 known silent c.3234 p.A1078 0.995 pirsf_Tyr_kinase_insulin-like_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_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 157 1 0.632911 204 12 5.55556 FCRL3 0 genome.wustl.edu 37 1 157667015 157667015 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 157667015 157667015 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.759 p.E253D 0.988 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 118 0 0 104 49 32.0261 KIRREL 0 genome.wustl.edu 37 1 158061341 158061341 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 158061341 158061341 A G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1514 p.E505G 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 146 0 0 141 43 23.3696 OR6Y1 0 genome.wustl.edu 37 1 158517021 158517021 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 158517021 158517021 G T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.875 p.P292H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 136 0 0 261 26 9.05923 SPTA1 0 genome.wustl.edu 37 1 158637785 158637785 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 158637785 158637785 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1901 p.K634T 0.979 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 141 0 0 205 63 23.5075 MNDA 0 genome.wustl.edu 37 1 158815671 158815671 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 158815671 158815671 T G SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.865 p.F289V 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 51 0 0 110 8 6.77966 DARC 0 genome.wustl.edu 37 1 159175526 159175526 + Silent SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159175526 159175526 G T SNP DARC ENST00000368121 human ensembl 74_37 +1 known silent c.303 p.L101 0.247 prints_Duffy_chemokine_rcpt prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 197 0 0 216 58 21.1679 DARC 0 genome.wustl.edu 37 1 159175541 159175541 + Silent SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159175541 159175541 G T SNP DARC ENST00000368121 human ensembl 74_37 +1 known silent c.318 p.V106 0.995 prints_Duffy_chemokine_rcpt prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 175 0 0 199 45 18.4426 DARC 0 genome.wustl.edu 37 1 159175542 159175542 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159175542 159175542 G T SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.319 p.G107C 1.000 prints_Duffy_chemokine_rcpt prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 174 0 0 196 45 18.6722 OR10J3 0 genome.wustl.edu 37 1 159284016 159284016 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159284016 159284016 A C SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.434 p.L145R 0.372 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 95 0 0 112 32 22.2222 OR10J1 0 genome.wustl.edu 37 1 159409693 159409693 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159409693 159409693 A C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.145 p.T49P 0.059 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 136 0 0 157 160 50.4732 OR10J1 0 genome.wustl.edu 37 1 159410501 159410501 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159410501 159410501 A C SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.953 p.K318T 0.034 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 99 0 0 116 10 7.93651 OR10J5 0 genome.wustl.edu 37 1 159505755 159505755 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 159505755 159505755 A C SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.43 p.L15V 0.582 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 80 0 0 171 15 8.06452 SPEN 0 genome.wustl.edu 37 1 16235934 16235934 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 16235934 16235934 A C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.1000 p.S334R 1.000 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 142 0 0 189 12 5.97015 SPEN 0 genome.wustl.edu 37 1 16255028 16255028 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 16255028 16255028 A T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.2293 p.S765C 0.997 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 137 0 0 138 13 8.60927 SPEN 0 genome.wustl.edu 37 1 16256649 16256649 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 16256649 16256649 A T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.3914 p.E1305V 1.000 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 104 0 0 131 7 5.07246 SPEN 0 genome.wustl.edu 37 1 16257198 16257198 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 16257198 16257198 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.4463 p.R1488I 1.000 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 77 0 0 94 5 5.05051 EPHA2 0 genome.wustl.edu 37 1 16458611 16458611 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 16458611 16458611 A C SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2273 p.F758C 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_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 207 0 0 156 13 7.69231 ADCY10 0 genome.wustl.edu 37 1 167870911 167870911 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 167870911 167870911 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.425 p.R142Q 0.849 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 178 0 0 266 28 9.52381 FMO4 0 genome.wustl.edu 37 1 171310887 171310887 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 171310887 171310887 T G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.1586 p.L529R 0.945 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_3 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 35 0 0 62 20 24.3902 ATP13A2 0 genome.wustl.edu 37 1 17316763 17316763 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 17316763 17316763 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known silent c.2271 p.A757 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,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 ATP13A2 HGNC ENSG00000159363 110 0 0 29 70 70.7071 SDHB 0 genome.wustl.edu 37 1 17359570 17359570 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 17359570 17359570 T G SNP SDHB ENST00000375499 human ensembl 74_37 -1 known silent c.271 p.R91 0.994 superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 33 0 0 50 5 9.09091 FAM129A 0 genome.wustl.edu 37 1 184764288 184764288 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 184764288 184764288 G A SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known silent c.2610 p.S870 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 199 0 0 230 13 5.34979 SWT1 0 genome.wustl.edu 37 1 185143603 185143603 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 185143603 185143603 T G SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.324 p.N108K 0.059 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 29 0 0 56 6 9.67742 HMCN1 0 genome.wustl.edu 37 1 186077709 186077709 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 186077709 186077709 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.10969 p.R3657G 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_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 46 0 0 95 11 10.3774 TAS1R2 0 genome.wustl.edu 37 1 19166828 19166828 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 19166828 19166828 T C SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.1785 p.I595M 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 TAS1R2 HGNC ENSG00000179002 177 0 0 93 99 51.5625 RGS18 0 genome.wustl.edu 37 1 192128435 192128435 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 192128435 192128435 T G SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.205 p.L69V 0.191 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 RGS18 HGNC ENSG00000150681 29 0 0 26 4 13.3333 MRTO4 0 genome.wustl.edu 37 1 19585179 19585179 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 19585179 19585179 T G SNP MRTO4 ENST00000330263 human ensembl 74_37 +1 known missense c.575 p.L192R 1.000 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 133 0 0 178 23 11.4428 CFH 0 genome.wustl.edu 37 1 196654199 196654199 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 196654199 196654199 T C SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.796 p.S266P 0.000 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 CFH HGNC ENSG00000000971 76 0 0 59 22 27.1605 CRB1 0 genome.wustl.edu 37 1 197390201 197390201 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 197390201 197390201 T A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.1243 p.L415M 0.204 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,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 CRB1 HGNC ENSG00000134376 118 0 0 79 16 16.8421 RNPEP 0 genome.wustl.edu 37 1 201974779 201974779 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 201974779 201974779 G C SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.1888 p.A630P 0.004 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 201 0 0 144 9 5.88235 FMOD 0 genome.wustl.edu 37 1 203316609 203316609 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 203316609 203316609 A C SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.790 p.F264V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors FMOD HGNC ENSG00000122176 251 0 0 247 25 9.19118 OPTC 0 genome.wustl.edu 37 1 203467901 203467901 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 203467901 203467901 A T SNP OPTC ENST00000367222 human ensembl 74_37 +1 known missense c.463 p.T155S 0.960 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OPTC HGNC ENSG00000188770 111 0 0 127 12 8.63309 EIF2D 0 genome.wustl.edu 37 1 206773628 206773628 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 206773628 206773628 T A SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known missense c.937 p.S313C 1.000 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 58 0 0 70 10 12.5 CR2 0 genome.wustl.edu 37 1 207639927 207639927 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 207639927 207639927 A G SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.115 p.T39A 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 142 0 0 116 39 25.1613 CR1L 0 genome.wustl.edu 37 1 207871182 207871182 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 207871182 207871182 A G SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.1106 p.Q369R 0.710 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 225 0 0 197 16 7.51174 FAM71A 0 genome.wustl.edu 37 1 212798506 212798506 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 212798506 212798506 A G SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.287 p.E96G 0.008 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 98 0 0 46 7 13.2075 CENPF 0 genome.wustl.edu 37 1 214819436 214819436 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 214819436 214819436 C A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6523 p.L2175I 1.000 pfam_Centromere_CenpF_leu-rich_rpt pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 144 0 0 57 56 49.5575 USH2A 0 genome.wustl.edu 37 1 215987215 215987215 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 215987215 215987215 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9602 p.K3201T 0.052 superfamily_Fibronectin_type3,smart_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 45 0 0 30 29 49.1525 HSPG2 0 genome.wustl.edu 37 1 22181917 22181917 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 22181917 22181917 T C SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.5877 p.Q1959 1.000 pfam_Ig_I-set,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 57 0 0 39 4 9.30233 MIA3 0 genome.wustl.edu 37 1 222801279 222801279 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 222801279 222801279 A C SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.717 p.K239N 0.947 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 69 0 0 56 6 9.67742 MIA3 0 genome.wustl.edu 37 1 222832160 222832160 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 222832160 222832160 T G SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known silent c.4704 p.T1568 0.959 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 179 0 0 60 57 48.7179 C1orf95 0 genome.wustl.edu 37 1 226784652 226784652 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 226784652 226784652 T G SNP C1orf95 ENST00000366788 human ensembl 74_37 +1 known missense c.352 p.F118V 1.000 NULL NULL - no_errors C1orf95 HGNC ENSG00000203685 169 0 0 130 9 6.47482 PSEN2 0 genome.wustl.edu 37 1 227076667 227076667 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 227076667 227076667 T G SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known missense c.803 p.I268S 1.000 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 91 0 0 72 4 5.26316 IBA57 0 genome.wustl.edu 37 1 228362473 228362473 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 228362473 228362473 C T SNP IBA57 ENST00000366711 human ensembl 74_37 +1 known missense c.422 p.A141V 0.000 pfam_GCV_T_N pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 34 0 0 18 3 14.2857 OBSCN 0 genome.wustl.edu 37 1 228509606 228509606 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 228509606 228509606 A G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15064 p.S5022G 0.121 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 68 0 0 66 5 7.04225 RYR2 0 genome.wustl.edu 37 1 237758836 237758836 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 237758836 237758836 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4469 p.E1490G 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 59 0 0 40 11 21.5686 TCEB3 0 genome.wustl.edu 37 1 24083479 24083479 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 24083479 24083479 T C SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known silent c.2199 p.H733 0.000 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 493 0 0 456 52 10.2362 PLCH2 0 genome.wustl.edu 37 1 2428315 2428315 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 2428315 2428315 A G SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.1982 p.Q661R 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_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 PLCH2 HGNC ENSG00000149527 183 1 0.543478 32 53 62.3529 ZNF496 0 genome.wustl.edu 37 1 247464342 247464342 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 247464342 247464342 A C SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1351 p.F451V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 130 0 0 87 14 13.8614 OR2G3 0 genome.wustl.edu 37 1 247769553 247769553 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 247769553 247769553 T G SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known silent c.666 p.T222 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 OR2G3 HGNC ENSG00000177476 68 0 0 72 4 5.26316 OR2AK2 0 genome.wustl.edu 37 1 248129218 248129218 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 248129218 248129218 A C SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.585 p.E195D 0.002 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 OR2AK2 HGNC ENSG00000187080 77 0 0 78 20 20.4082 OR2M3 0 genome.wustl.edu 37 1 248367308 248367308 + Nonstop_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 248367308 248367308 A C SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known nonstop c.939 p.*313C 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 110 0 0 99 18 15.3846 OR14I1 0 genome.wustl.edu 37 1 248845045 248845045 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 248845045 248845045 G A SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known silent c.561 p.S187 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 99 0 0 31 27 46.5517 SRRM1 0 genome.wustl.edu 37 1 24975417 24975417 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 24975417 24975417 T G SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.302 p.F101C 1.000 pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 224 0 0 202 15 6.91244 EXTL1 0 genome.wustl.edu 37 1 26349405 26349405 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 26349405 26349405 A G SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.268 p.K90E 0.060 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 113 0 0 90 12 11.7647 ARID1A 0 genome.wustl.edu 37 1 27106463 27106463 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 27106463 27106463 A C SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6074 p.K2025T 1.000 pfam_DUF3518 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 134 0 0 106 7 6.19469 PPP1R8 0 genome.wustl.edu 37 1 28176805 28176805 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 28176805 28176805 G A SNP PPP1R8 ENST00000311772 human ensembl 74_37 +1 known missense c.904 p.D302N 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC ENSG00000117751 187 0 0 143 35 19.6629 PHACTR4 0 genome.wustl.edu 37 1 28818272 28818272 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 28818272 28818272 T G SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known silent c.2019 p.P673 0.973 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 142 0 0 82 6 6.81818 YTHDF2 0 genome.wustl.edu 37 1 29069077 29069077 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 29069077 29069077 T G SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.295 p.F99V 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 209 0 0 170 28 14.1414 CSMD2 0 genome.wustl.edu 37 1 34035042 34035042 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 34035042 34035042 A G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8063 p.L2688P 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 CSMD2 HGNC ENSG00000121904 121 0 0 80 6 6.97674 CSMD2 0 genome.wustl.edu 37 1 34046405 34046405 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 34046405 34046405 A C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.7335 p.R2445 0.995 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 68 0 0 43 11 20.3704 GRIK3 0 genome.wustl.edu 37 1 37282714 37282714 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 37282714 37282714 T A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2038 p.T680S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_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 GRIK3 HGNC ENSG00000163873 87 0 0 59 10 14.4928 CAP1 0 genome.wustl.edu 37 1 40535490 40535490 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 40535490 40535490 C G SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.937 p.R313G 0.996 NULL pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 158 0 0 84 49 36.8421 ZFP69 0 genome.wustl.edu 37 1 40947493 40947493 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 40947493 40947493 A G SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known silent c.186 p.E62 0.023 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 174 0 0 117 11 8.59375 SZT2 0 genome.wustl.edu 37 1 43880837 43880837 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 43880837 43880837 G T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.583 p.D195Y 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 66 0 0 22 17 43.5897 KIF2C 0 genome.wustl.edu 37 1 45232771 45232771 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 45232771 45232771 G C SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.2098 p.V700L 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 180 0 0 130 61 31.9372 LRRC41 0 genome.wustl.edu 37 1 46751978 46751978 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 46751978 46751978 T A SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.551 p.N184I 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 121 0 0 87 7 7.44681 NRD1 0 genome.wustl.edu 37 1 52277666 52277666 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 52277666 52277666 T G SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.1983 p.E661D 0.995 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 58 0 0 62 21 25.3012 ROR1 0 genome.wustl.edu 37 1 64608148 64608148 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 64608148 64608148 C T SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.989 p.S330L 1.000 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 ROR1 HGNC ENSG00000185483 110 0 0 105 9 7.89474 JAK1 0 genome.wustl.edu 37 1 65313281 65313281 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 65313281 65313281 A C SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.1833 p.T611 0.001 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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_Jak/Tyk2,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,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 168 0 0 169 11 6.11111 SGIP1 0 genome.wustl.edu 37 1 67147606 67147606 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 67147606 67147606 A C SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.881 p.D294A 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 141 0 0 146 25 14.6199 SRSF11 0 genome.wustl.edu 37 1 70700393 70700393 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 70700393 70700393 A G SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known silent c.462 p.P154 0.227 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 119 0 0 105 23 17.9688 ST6GALNAC5 0 genome.wustl.edu 37 1 77510166 77510166 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 77510166 77510166 A G SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.539 p.D180G 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 187 0 0 169 11 6.11111 CAMTA1 0 genome.wustl.edu 37 1 7796536 7796536 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 7796536 7796536 A C SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3199 p.T1067P 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 197 0 0 125 10 7.40741 LPAR3 0 genome.wustl.edu 37 1 85331459 85331459 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 85331459 85331459 A C SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known silent c.345 p.A115 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 493 0 0 373 33 8.12808 COL24A1 0 genome.wustl.edu 37 1 86203164 86203164 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 86203164 86203164 A T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.4697 p.L1566H 0.998 pfam_Fib_collagen_C,smart_Fib_collagen_C 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 33 0 0 24 8 25 GBP5 0 genome.wustl.edu 37 1 89729464 89729464 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 89729464 89729464 T G SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.1317 p.E439D 0.346 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 GBP5 HGNC ENSG00000154451 136 0 0 107 29 21.3235 HFM1 0 genome.wustl.edu 37 1 91784878 91784878 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 91784878 91784878 A C SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.2652 p.I884M 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,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,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 72 0 0 64 8 11.1111 C1orf146 0 genome.wustl.edu 37 1 92707767 92707767 + Splice_Site SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 92707767 92707767 A C SNP C1orf146 ENST00000370375 human ensembl 74_37 +1 known splice_site c.67-2 e2-2 0.914 - - - no_errors C1orf146 HGNC ENSG00000203910 34 0 0 32 4 11.1111 EVI5 0 genome.wustl.edu 37 1 93091424 93091424 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 93091424 93091424 A C SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known missense c.1580 p.L527R 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 73 0 0 72 12 14.2857 ABCA4 0 genome.wustl.edu 37 1 94487448 94487448 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 94487448 94487448 A C SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.4727 p.L1576R 0.883 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 109 0 0 68 9 11.6883 DPYD 0 genome.wustl.edu 37 1 97564097 97564097 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 97564097 97564097 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2714 p.S905L 0.000 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 101 0 0 57 6 9.52381 DNMBP 0 genome.wustl.edu 37 10 101716033 101716033 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 101716033 101716033 A T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.1198 p.S400T 0.000 NULL 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 141 0 0 93 11 10.5769 NOLC1 0 genome.wustl.edu 37 10 103916821 103916821 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 103916821 103916821 T G SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.166 p.F56V 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 214 0 0 160 22 12.0879 INA 0 genome.wustl.edu 37 10 105048263 105048263 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 105048263 105048263 T G SNP INA ENST00000369849 human ensembl 74_37 +1 known missense c.1337 p.L446R 0.087 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 172 0 0 102 9 8.10811 COL17A1 0 genome.wustl.edu 37 10 105807556 105807556 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 105807556 105807556 A T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.2276 p.L759H 0.951 pfam_Collagen pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 56 0 0 22 3 12 DUSP5 0 genome.wustl.edu 37 10 112269879 112269879 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 112269879 112269879 T G SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.850 p.F284V 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat 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 - no_errors DUSP5 HGNC ENSG00000138166 116 0 0 61 9 12.8571 FGFR2 0 genome.wustl.edu 37 10 123246922 123246922 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 123246922 123246922 T G SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.2006 p.K669T 1.000 pirsf_FGF_rcpt_fam,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_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 64 0 0 17 4 19.0476 TACC2 0 genome.wustl.edu 37 10 123976324 123976324 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 123976324 123976324 A C SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.7527 p.K2509N 0.965 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 161 0 0 75 14 15.7303 MCM10 0 genome.wustl.edu 37 10 13234477 13234477 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 13234477 13234477 A G SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.1657 p.I553V 0.482 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 100 0 0 75 4 5.06329 CDNF 0 genome.wustl.edu 37 10 14867563 14867563 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 14867563 14867563 A G SNP CDNF ENST00000465530 human ensembl 74_37 -1 known silent c.300 p.T100 0.122 pfam_Armet_prot pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 132 0 0 126 54 30 NEBL 0 genome.wustl.edu 37 10 21129726 21129726 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 21129726 21129726 A C SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.1280 p.L427R 0.081 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 23 0 0 39 5 11.3636 SKIDA1 0 genome.wustl.edu 37 10 21805290 21805290 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 21805290 21805290 C T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.1462 p.A488T 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 121 0 0 90 17 15.8879 SKIDA1 0 genome.wustl.edu 37 10 21805305 21805305 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 21805305 21805305 A C SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.1447 p.F483V 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 104 0 0 81 13 13.8298 ZNF33B 0 genome.wustl.edu 37 10 43089768 43089768 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 43089768 43089768 C G SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.630 p.E210D 1.000 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 ZNF33B HGNC ENSG00000196693 118 0 0 76 8 9.52381 CSGALNACT2 0 genome.wustl.edu 37 10 43659338 43659338 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 43659338 43659338 C T SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known silent c.1005 p.T335 0.990 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 40 0 0 27 4 12.9032 AKR1C2 0 genome.wustl.edu 37 10 5040881 5040881 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 5040881 5040881 T C SNP AKR1C2 ENST00000380753 human ensembl 74_37 -1 known missense c.506 p.N169S 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C2 HGNC ENSG00000151632 141 0 0 68 16 19.0476 AKR1C4 0 genome.wustl.edu 37 10 5242195 5242195 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 5242195 5242195 T G SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.136 p.F46V 0.986 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 114 0 0 132 7 5.03597 PCDH15 0 genome.wustl.edu 37 10 55780134 55780134 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 55780134 55780134 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.2569 p.R857 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 192 0 0 114 29 20.2797 CISD1 0 genome.wustl.edu 37 10 60037071 60037071 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 60037071 60037071 A G SNP CISD1 ENST00000333926 human ensembl 74_37 +1 known missense c.226 p.R76G 1.000 pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam pfam_FeS-contain_CDGSH-typ,pfam_FeS-contain_mitoNEET_N,smart_FeS-contain_CDGSH-typ_subfam - no_errors CISD1 HGNC ENSG00000122873 51 0 0 24 20 45.4545 ANK3 0 genome.wustl.edu 37 10 61815524 61815524 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 61815524 61815524 T G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.12957 p.K4319N 1.000 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 220 1 0.452489 215 19 8.11966 PRKCQ 0 genome.wustl.edu 37 10 6528061 6528061 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 6528061 6528061 T G SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.836 p.N279T 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 46 0 0 49 18 26.8657 PRKCQ 0 genome.wustl.edu 37 10 6552963 6552963 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 6552963 6552963 T A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.312 p.E104D 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 97 0 0 89 14 13.5922 TET1 0 genome.wustl.edu 37 10 70406019 70406019 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 70406019 70406019 A C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.3533 p.K1178T 0.041 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 98 0 0 76 14 15.5556 SFMBT2 0 genome.wustl.edu 37 10 7212906 7212906 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 7212906 7212906 T G SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2528 p.K843T 1.000 pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 149 0 0 123 7 5.38462 PALD1 0 genome.wustl.edu 37 10 72307084 72307084 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 72307084 72307084 T C SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.2144 p.L715P 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 283 0 0 90 11 10.8911 PRF1 0 genome.wustl.edu 37 10 72360127 72360127 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 72360127 72360127 A C SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.532 p.F178V 0.164 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 75 0 0 36 3 7.69231 SGPL1 0 genome.wustl.edu 37 10 72637083 72637083 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 72637083 72637083 A T SNP SGPL1 ENST00000373202 human ensembl 74_37 +1 known missense c.1698 p.K566N 0.081 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SGPL1 HGNC ENSG00000166224 108 0 0 38 4 9.52381 SLC29A3 0 genome.wustl.edu 37 10 73082659 73082659 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 73082659 73082659 T G SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known missense c.148 p.F50V 0.996 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 172 0 0 63 19 23.1707 KCNMA1 0 genome.wustl.edu 37 10 78778771 78778771 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 78778771 78778771 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2027 p.R676K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 31 0 0 15 4 21.0526 SFTPA2 0 genome.wustl.edu 37 10 81317142 81317142 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 81317142 81317142 A G SNP SFTPA2 ENST00000372325 human ensembl 74_37 -1 known silent c.570 p.T190 0.006 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC ENSG00000185303 336 0 0 194 23 10.5991 GRID1 0 genome.wustl.edu 37 10 87373285 87373285 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 87373285 87373285 T A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2480 p.K827M 1.000 pfam_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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 GRID1 HGNC ENSG00000182771 122 0 0 41 18 30.5085 GRID1 0 genome.wustl.edu 37 10 87484327 87484327 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 87484327 87484327 T G SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1640 p.K547T 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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 GRID1 HGNC ENSG00000182771 83 0 0 40 7 14.8936 ENSG00000271880 0 genome.wustl.edu 37 10 88769678 88769678 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 88769678 88769678 A C SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 186 0 0 72 9 11.1111 HECTD2 0 genome.wustl.edu 37 10 93257892 93257892 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 93257892 93257892 T G SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.1720 p.L574V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 55 0 0 37 8 17.7778 IDE 0 genome.wustl.edu 37 10 94268496 94268496 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 94268496 94268496 A C SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.1049 p.L350R 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 103 0 0 53 10 15.873 EXOC6 0 genome.wustl.edu 37 10 94714421 94714421 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 94714421 94714421 A C SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known missense c.1609 p.T537P 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 62 0 0 45 6 11.7647 RRP12 0 genome.wustl.edu 37 10 99150259 99150259 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 99150259 99150259 T A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.674 p.D225V 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 76 0 0 35 5 12.5 DYNC2H1 0 genome.wustl.edu 37 11 103049955 103049955 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 103049955 103049955 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.6340 p.F2114L 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 55 0 0 68 7 9.33333 DYNC2H1 0 genome.wustl.edu 37 11 103070185 103070185 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 103070185 103070185 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.8068 p.F2690V 1.000 superfamily_P-loop_NTPase 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 18 0 0 14 3 17.6471 GRIA4 0 genome.wustl.edu 37 11 105845279 105845279 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 105845279 105845279 T G SNP GRIA4 ENST00000393127 human ensembl 74_37 +1 known missense c.2652 p.I884M 1.000 NULL 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 51 0 0 20 13 39.3939 HTR3A 0 genome.wustl.edu 37 11 113857523 113857523 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 113857523 113857523 T A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1007 p.L336H 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 199 0 0 58 23 28.3951 PCSK7 0 genome.wustl.edu 37 11 117097908 117097908 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 117097908 117097908 C T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.734 p.C245Y 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_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 117 0 0 64 5 7.24638 BACE1 0 genome.wustl.edu 37 11 117162426 117162426 + Splice_Site SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 117162426 117162426 A T SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known splice_site c.942+2 e6+2 1.000 - - - no_errors BACE1 HGNC ENSG00000186318 65 0 0 31 4 11.4286 KMT2A 0 genome.wustl.edu 37 11 118343628 118343628 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 118343628 118343628 T G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.1754 p.L585R 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 119 0 0 71 6 7.79221 C2CD2L 0 genome.wustl.edu 37 11 118986736 118986736 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 118986736 118986736 T G SNP C2CD2L ENST00000528586 human ensembl 74_37 +1 putative silent c.1155 p.A385 0.198 NULL superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 50 0 0 14 5 26.3158 GRIK4 0 genome.wustl.edu 37 11 120673451 120673451 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 120673451 120673451 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.132 p.S44 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 GRIK4 HGNC ENSG00000149403 149 0 0 30 21 41.1765 GRIK4 0 genome.wustl.edu 37 11 120707510 120707510 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 120707510 120707510 T G SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.701 p.L234R 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 GRIK4 HGNC ENSG00000149403 153 0 0 85 32 27.3504 UBASH3B 0 genome.wustl.edu 37 11 122653921 122653921 + Silent SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 122653921 122653921 T A SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known silent c.762 p.A254 0.971 superfamily_SH3_domain,pfscan_SH3_domain pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 131 0 0 79 7 8.13953 OR6X1 0 genome.wustl.edu 37 11 123624601 123624601 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 123624601 123624601 A C SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.626 p.L209R 0.054 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 120 0 0 61 29 32.2222 OR8B12 0 genome.wustl.edu 37 11 124413447 124413447 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 124413447 124413447 G A SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known missense c.104 p.T35M 0.039 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 123 0 0 44 20 31.25 HEPACAM 0 genome.wustl.edu 37 11 124793853 124793853 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 124793853 124793853 T G SNP HEPACAM ENST00000298251 human ensembl 74_37 -1 known missense c.481 p.S161R 1.000 pfam_Ig_I-set,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 HEPACAM HGNC ENSG00000165478 42 0 0 23 3 11.5385 HEPACAM 0 genome.wustl.edu 37 11 124794827 124794827 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 124794827 124794827 T G SNP HEPACAM ENST00000298251 human ensembl 74_37 -1 known missense c.224 p.K75T 1.000 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 HEPACAM HGNC ENSG00000165478 156 0 0 61 18 22.7848 FAM118B 0 genome.wustl.edu 37 11 126120444 126120444 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 126120444 126120444 A G SNP FAM118B ENST00000533050 human ensembl 74_37 +1 known missense c.383 p.Y128C 1.000 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 83 0 0 25 15 37.5 SPATA19 0 genome.wustl.edu 37 11 133715312 133715312 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 133715312 133715312 A C SNP SPATA19 ENST00000299140 human ensembl 74_37 -1 known missense c.30 p.I10M 0.031 NULL NULL - no_errors SPATA19 HGNC ENSG00000166118 85 0 0 42 5 10.6383 ARNTL 0 genome.wustl.edu 37 11 13381932 13381932 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 13381932 13381932 T G SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known silent c.420 p.T140 0.994 superfamily_bHLH_dom,prints_Nuc_translocat pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 80 0 0 90 7 7.21649 MRGPRX2 0 genome.wustl.edu 37 11 19077439 19077439 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 19077439 19077439 A T SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.511 p.L171I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 108 0 0 42 23 35.3846 ZDHHC13 0 genome.wustl.edu 37 11 19164601 19164601 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 19164601 19164601 T C SNP ZDHHC13 ENST00000446113 human ensembl 74_37 +1 known missense c.104 p.L35P 0.993 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 23 0 0 19 6 24 NELL1 0 genome.wustl.edu 37 11 21592445 21592445 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 21592445 21592445 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2116 p.G706R 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C 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 NELL1 HGNC ENSG00000165973 162 0 0 88 9 9.27835 ATHL1 0 genome.wustl.edu 37 11 294177 294177 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 294177 294177 T G SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known missense c.1789 p.F597V 0.124 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 144 0 0 79 9 10.2273 PDHX 0 genome.wustl.edu 37 11 34988225 34988225 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 34988225 34988225 A G SNP PDHX ENST00000227868 human ensembl 74_37 +1 known missense c.680 p.K227R 1.000 NULL 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 169 0 0 123 7 5.38462 ACCS 0 genome.wustl.edu 37 11 44104811 44104811 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 44104811 44104811 C G SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.1204 p.P402A 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 142 0 0 99 8 7.47664 EXT2 0 genome.wustl.edu 37 11 44265716 44265716 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 44265716 44265716 A C SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known missense c.2135 p.K712T 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 129 0 0 62 28 31.1111 PHF21A 0 genome.wustl.edu 37 11 45987083 45987083 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 45987083 45987083 A C SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.779 p.L260R 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 58 0 0 36 4 10 ZNF408 0 genome.wustl.edu 37 11 46724676 46724676 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 46724676 46724676 A T SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.535 p.S179C 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 32 0 0 23 3 11.5385 RAPSN 0 genome.wustl.edu 37 11 47464290 47464290 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 47464290 47464290 T G SNP RAPSN ENST00000298854 human ensembl 74_37 -1 known missense c.608 p.K203T 1.000 pfscan_TPR-contain_dom pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 109 0 0 75 6 7.40741 OR4X2 0 genome.wustl.edu 37 11 48267363 48267363 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 48267363 48267363 C A SNP OR4X2 ENST00000302329 human ensembl 74_37 +1 known missense c.708 p.F236L 0.003 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 OR4X2 HGNC ENSG00000172208 69 0 0 49 8 14.0351 OR4A47 0 genome.wustl.edu 37 11 48510658 48510658 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 48510658 48510658 T C SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.314 p.F105S 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 OR4A47 HGNC ENSG00000237388 101 0 0 88 30 25.4237 OR4A15 0 genome.wustl.edu 37 11 55135520 55135520 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 55135520 55135520 T G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.161 p.V54G 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 67 0 0 67 22 24.7191 OR4C6 0 genome.wustl.edu 37 11 55432732 55432732 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 55432732 55432732 T C SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.90 p.L30 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 125 0 0 131 17 11.4865 OR52E8 0 genome.wustl.edu 37 11 5878214 5878214 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 5878214 5878214 A C SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.719 p.L240R 0.031 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 OR52E8 HGNC ENSG00000183269 78 0 0 70 7 9.09091 OR5A2 0 genome.wustl.edu 37 11 59190129 59190129 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 59190129 59190129 T C SNP OR5A2 ENST00000302040 human ensembl 74_37 -1 known missense c.298 p.T100A 0.000 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 OR5A2 HGNC ENSG00000172324 97 0 0 51 6 10.5263 OSBP 0 genome.wustl.edu 37 11 59344127 59344127 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 59344127 59344127 A C SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.2347 p.L783V 0.032 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 132 0 0 135 47 25.8242 MS4A6A 0 genome.wustl.edu 37 11 59949127 59949127 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 59949127 59949127 T C SNP MS4A6A ENST00000323961 human ensembl 74_37 -1 known missense c.74 p.E25G 0.001 superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 174 0 0 154 18 10.4651 MS4A10 0 genome.wustl.edu 37 11 60561446 60561446 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 60561446 60561446 A C SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known missense c.362 p.K121T 0.096 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 142 0 0 78 25 24.2718 OR56B4 0 genome.wustl.edu 37 11 6129691 6129691 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 6129691 6129691 T G SNP OR56B4 ENST00000316529 human ensembl 74_37 +1 known missense c.683 p.L228R 0.164 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC ENSG00000180919 124 0 0 74 23 23.7113 SCGB1D1 0 genome.wustl.edu 37 11 61959609 61959609 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 61959609 61959609 T C SNP SCGB1D1 ENST00000306238 human ensembl 74_37 +1 known missense c.137 p.L46P 0.004 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D1 HGNC ENSG00000168515 90 0 0 51 10 16.3934 AHNAK 0 genome.wustl.edu 37 11 62300884 62300884 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 62300884 62300884 T G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.1005 p.E335D 0.017 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 160 0 0 78 8 9.30233 SLC22A6 0 genome.wustl.edu 37 11 62749434 62749434 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 62749434 62749434 A C SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known missense c.677 p.I226S 0.001 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 SLC22A6 HGNC ENSG00000197901 55 0 0 25 5 16.6667 RASGRP2 0 genome.wustl.edu 37 11 64502684 64502684 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 64502684 64502684 A C SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.1312 p.F438V 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,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 - no_errors RASGRP2 HGNC ENSG00000068831 77 0 0 39 10 20.4082 NAALADL1 0 genome.wustl.edu 37 11 64822016 64822016 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 64822016 64822016 A G SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known silent c.798 p.S266 0.329 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 52 0 0 32 6 15.7895 SLC25A45 0 genome.wustl.edu 37 11 65146879 65146879 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 65146879 65146879 A C SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known missense c.307 p.F103V 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 113 0 0 61 8 11.5942 NPAS4 0 genome.wustl.edu 37 11 66190308 66190308 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 66190308 66190308 A T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.594 p.R198S 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 148 0 0 46 18 28.125 NPAS4 0 genome.wustl.edu 37 11 66192045 66192045 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 66192045 66192045 T G SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.1684 p.F562V 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 302 0 0 172 13 7.02703 DCHS1 0 genome.wustl.edu 37 11 6645019 6645019 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 6645019 6645019 C A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.7888 p.D2630Y 1.000 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 187 0 0 121 17 12.3188 CABP2 0 genome.wustl.edu 37 11 67287296 67287296 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 67287296 67287296 T C SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known missense c.605 p.D202G 1.000 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 CABP2 HGNC ENSG00000167791 99 0 0 69 4 5.47945 PPFIA1 0 genome.wustl.edu 37 11 70218481 70218481 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 70218481 70218481 T G SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.3026 p.V1009G 0.998 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 PPFIA1 HGNC ENSG00000131626 81 0 0 43 12 21.8182 SHANK2 0 genome.wustl.edu 37 11 70331991 70331991 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 70331991 70331991 T C SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.4410 p.S1470 0.067 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 126 0 0 66 8 10.8108 NUMA1 0 genome.wustl.edu 37 11 71715136 71715136 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 71715136 71715136 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.6133 p.R2045C 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 199 0 0 82 32 28.0702 ARHGEF17 0 genome.wustl.edu 37 11 73022308 73022308 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 73022308 73022308 A C SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.2625 p.E875D 0.978 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 90 0 0 68 7 9.33333 FAM168A 0 genome.wustl.edu 37 11 73131004 73131004 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 73131004 73131004 A T SNP FAM168A ENST00000064778 human ensembl 74_37 -1 known silent c.219 p.S73 1.000 NULL NULL - no_errors FAM168A HGNC ENSG00000054965 78 0 0 51 7 12.069 ST5 0 genome.wustl.edu 37 11 8752501 8752501 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 8752501 8752501 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.336 p.D112 0.996 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 119 1 0.833333 48 11 18.6441 NAALAD2 0 genome.wustl.edu 37 11 89880599 89880599 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 89880599 89880599 A C SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.296 p.K99T 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 62 0 0 38 14 26.9231 FAT3 0 genome.wustl.edu 37 11 92531144 92531144 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 92531144 92531144 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.4965 p.A1655 0.155 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 99 0 0 58 16 21.6216 FAT3 0 genome.wustl.edu 37 11 92531514 92531514 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 92531514 92531514 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5335 p.S1779R 1.000 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 34 0 0 16 12 42.8571 ZNF143 0 genome.wustl.edu 37 11 9492969 9492969 + Splice_Site SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 9492969 9492969 T C SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known splice_site c.112+2 e1+2 1.000 - - - no_errors ZNF143 HGNC ENSG00000166478 85 0 0 54 5 8.47458 STAB2 0 genome.wustl.edu 37 12 104100724 104100724 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 104100724 104100724 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4151 p.E1384G 1.000 smart_EGF_laminin,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 58 0 0 27 7 20.5882 ENSG00000180574 0 genome.wustl.edu 37 12 10659515 10659515 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 10659515 10659515 A T SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.1014 p.G338 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 145 0 0 102 13 11.3043 UBE3B 0 genome.wustl.edu 37 12 109926426 109926426 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 109926426 109926426 T G SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.497 p.L166R 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 455 0 0 268 18 6.29371 CUX2 0 genome.wustl.edu 37 12 111779780 111779780 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 111779780 111779780 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.3582 p.S1194 0.668 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 150 0 0 49 23 31.9444 TAS2R42 0 genome.wustl.edu 37 12 11338639 11338639 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 11338639 11338639 A C SNP TAS2R42 ENST00000334266 human ensembl 74_37 -1 known missense c.905 p.L302R 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 53 0 0 23 11 32.3529 NOS1 0 genome.wustl.edu 37 12 117705928 117705928 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 117705928 117705928 A C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1861 p.L621V 0.863 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 78 0 0 80 5 5.88235 NOS1 0 genome.wustl.edu 37 12 117723967 117723967 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 117723967 117723967 T G SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1232 p.K411T 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 122 0 0 97 11 10.1852 CCDC60 0 genome.wustl.edu 37 12 119960794 119960794 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 119960794 119960794 A C SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.1091 p.K364T 0.977 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 266 0 0 136 21 13.3758 GCN1L1 0 genome.wustl.edu 37 12 120597772 120597772 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 120597772 120597772 T G SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.2606 p.N869T 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 148 1 0.671141 67 10 12.987 SRSF9 0 genome.wustl.edu 37 12 120899957 120899957 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 120899957 120899957 A C SNP SRSF9 ENST00000229390 human ensembl 74_37 -1 known silent c.531 p.T177 0.991 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF9 HGNC ENSG00000111786 29 0 0 16 5 23.8095 CCDC62 0 genome.wustl.edu 37 12 123290807 123290807 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 123290807 123290807 T G SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known missense c.1816 p.L606V 0.003 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 125 0 0 68 25 26.8817 NCOR2 0 genome.wustl.edu 37 12 124885181 124885181 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 124885181 124885181 T C SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1679 p.E560G 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 218 0 0 101 14 12.1739 GLT1D1 0 genome.wustl.edu 37 12 129467525 129467525 + Nonsense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 129467525 129467525 G T SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known nonsense c.931 p.E311* 0.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 180 0 0 80 21 20.7921 GPR133 0 genome.wustl.edu 37 12 131487375 131487375 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 131487375 131487375 A G SNP GPR133 ENST00000376682 human ensembl 74_37 +1 putative missense c.77 p.H26R 0.000 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 GPR133 HGNC ENSG00000111452 39 0 0 16 4 20 FBXL14 0 genome.wustl.edu 37 12 1675940 1675940 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 1675940 1675940 T G SNP FBXL14 ENST00000339235 human ensembl 74_37 -1 known silent c.1231 p.R411 0.253 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,pfam_Leu-rich_rpt_2,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC ENSG00000171823 143 0 0 55 5 8.33333 ST8SIA1 0 genome.wustl.edu 37 12 22354967 22354967 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 22354967 22354967 T C SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.590 p.Q197R 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 40 0 0 35 6 14.6341 IFLTD1 0 genome.wustl.edu 37 12 25702398 25702398 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 25702398 25702398 A G SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.172 p.S58P 0.020 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 82 0 0 23 12 34.2857 PRICKLE1 0 genome.wustl.edu 37 12 42858715 42858715 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 42858715 42858715 T C SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1121 p.K374R 0.959 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 90 0 0 29 12 29.2683 TUBA1A 0 genome.wustl.edu 37 12 49579658 49579658 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 49579658 49579658 T G SNP TUBA1A ENST00000301071 human ensembl 74_37 -1 known missense c.491 p.K164T 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin 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 TUBA1A HGNC ENSG00000167552 97 0 0 37 5 11.9048 FAM186B 0 genome.wustl.edu 37 12 49993476 49993476 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 49993476 49993476 A G SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known silent c.1947 p.S649 0.102 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 117 0 0 44 5 10.2041 DIP2B 0 genome.wustl.edu 37 12 51138610 51138610 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 51138610 51138610 T G SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.4719 p.A1573 0.257 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 87 0 0 43 6 12.2449 CCDC77 0 genome.wustl.edu 37 12 521068 521068 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 521068 521068 A C SNP CCDC77 ENST00000239830 human ensembl 74_37 +1 known missense c.194 p.K65T 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 94 0 0 48 8 14.2857 KRT84 0 genome.wustl.edu 37 12 52777521 52777521 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 52777521 52777521 T C SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.608 p.Q203R 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 83 0 0 35 14 28.5714 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 116 0 0 15 24 61.5385 KRT1 0 genome.wustl.edu 37 12 53068985 53068985 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 53068985 53068985 T G SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1927 p.T643P 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 250 0 0 151 25 14.2045 KRT1 0 genome.wustl.edu 37 12 53071158 53071158 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 53071158 53071158 T C SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1070 p.Q357R 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 106 0 0 55 6 9.83607 KRT4 0 genome.wustl.edu 37 12 53203219 53203219 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 53203219 53203219 T G SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.1004 p.K335T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 122 0 0 38 15 28.3019 EIF4B 0 genome.wustl.edu 37 12 53428497 53428497 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 53428497 53428497 A C SNP EIF4B ENST00000420463 human ensembl 74_37 +1 novel missense c.1310 p.K437T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 191 0 0 126 13 9.35252 SUOX 0 genome.wustl.edu 37 12 56398004 56398004 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 56398004 56398004 A C SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.831 p.E277D 1.000 pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 132 0 0 54 7 11.4754 RDH16 0 genome.wustl.edu 37 12 57346625 57346625 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 57346625 57346625 T G SNP RDH16 ENST00000398138 human ensembl 74_37 -1 known missense c.722 p.K241T 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 142 0 0 55 42 43.299 SLC26A10 0 genome.wustl.edu 37 12 58018700 58018700 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 58018700 58018700 T G SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.1279 p.F427V 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 SLC26A10 HGNC ENSG00000135502 182 1 0.546448 83 16 16.1616 VWF 0 genome.wustl.edu 37 12 6105331 6105331 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 6105331 6105331 T G SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.5900 p.K1967T 1.000 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 41 0 0 21 5 19.2308 VWF 0 genome.wustl.edu 37 12 6125698 6125698 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 6125698 6125698 T C SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.5295 p.G1765 0.620 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 58 0 0 31 4 11.4286 VWF 0 genome.wustl.edu 37 12 6128304 6128304 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 6128304 6128304 A C SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.4280 p.L1427R 1.000 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 149 0 0 64 9 12.3288 FAM19A2 0 genome.wustl.edu 37 12 62147518 62147518 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 62147518 62147518 A G SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.269 p.V90A 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 95 0 0 57 22 27.8481 RPSAP52 0 genome.wustl.edu 37 12 66152212 66152212 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 66152212 66152212 A C SNP RPSAP52 ENST00000489520 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors RPSAP52 HGNC ENSG00000241749 30 0 0 15 3 16.6667 HELB 0 genome.wustl.edu 37 12 66718889 66718889 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 66718889 66718889 A C SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.2653 p.T885P 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 53 0 0 27 25 48.0769 BEST3 0 genome.wustl.edu 37 12 70049460 70049460 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 70049460 70049460 T C SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.1234 p.S412G 0.003 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 219 0 0 77 26 25.2427 ANKS1B 0 genome.wustl.edu 37 12 99837566 99837566 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 12 99837566 99837566 A C SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.1460 p.V487G 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,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 ANKS1B HGNC ENSG00000185046 93 0 0 50 7 12.2807 NALCN 0 genome.wustl.edu 37 13 101833408 101833408 + RNA SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 101833408 101833408 T C SNP NALCN ENST00000470333 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NALCN HGNC ENSG00000102452 167 0 0 125 27 17.7632 COL4A1 0 genome.wustl.edu 37 13 110845208 110845208 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 110845208 110845208 A T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.1434 p.P478 0.764 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 90 0 0 63 5 7.35294 ING1 0 genome.wustl.edu 37 13 111367991 111367991 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 111367991 111367991 T G SNP ING1 ENST00000375774 human ensembl 74_37 +1 known silent c.201 p.G67 0.021 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 49 0 0 32 6 15.7895 SOX1 0 genome.wustl.edu 37 13 112722352 112722352 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 112722352 112722352 A C SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.380 p.K127T 1.000 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 82 0 0 31 5 13.8889 SPACA7 0 genome.wustl.edu 37 13 113030765 113030765 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 113030765 113030765 T G SNP SPACA7 ENST00000283550 human ensembl 74_37 +1 known silent c.66 p.T22 0.000 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 38 0 0 20 5 20 CHAMP1 0 genome.wustl.edu 37 13 115091308 115091308 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 115091308 115091308 A T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known missense c.1991 p.D664V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 70 0 0 51 16 23.8806 RNF17 0 genome.wustl.edu 37 13 25352459 25352459 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 25352459 25352459 A C SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.344 p.K115T 0.999 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 138 0 0 114 13 10.2362 RXFP2 0 genome.wustl.edu 37 13 32352709 32352709 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 32352709 32352709 A C SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.774 p.Q258H 0.994 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 RXFP2 HGNC ENSG00000133105 151 0 0 58 40 40.8163 EBPL 0 genome.wustl.edu 37 13 50235114 50235114 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 50235114 50235114 T A SNP EBPL ENST00000242827 human ensembl 74_37 -1 known missense c.611 p.K204M 0.994 NULL pfam_EBP - no_errors EBPL HGNC ENSG00000123179 48 0 0 58 4 6.45161 PCDH17 0 genome.wustl.edu 37 13 58206928 58206928 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 13 58206928 58206928 T C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.248 p.L83P 1.000 pfam_Cadherin_N,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 56 0 0 17 5 22.7273 EML1 0 genome.wustl.edu 37 14 100374049 100374049 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 100374049 100374049 A C SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1140 p.E380D 0.975 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,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 70 0 0 38 7 15.5556 DYNC1H1 0 genome.wustl.edu 37 14 102476330 102476330 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 102476330 102476330 A G SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.6128 p.K2043R 1.000 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 99 0 0 61 5 7.57576 KIF26A 0 genome.wustl.edu 37 14 104641834 104641834 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 104641834 104641834 T C SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known silent c.2709 p.S903 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 31 0 0 11 3 21.4286 AHNAK2 0 genome.wustl.edu 37 14 105415965 105415965 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 105415965 105415965 T G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5823 p.E1941D 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 419 0 0 223 26 10.4418 BRF1 0 genome.wustl.edu 37 14 105707653 105707653 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 105707653 105707653 T G SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.643 p.K215Q 1.000 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 62 0 0 32 3 8.57143 OR4K1 0 genome.wustl.edu 37 14 20404286 20404286 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 20404286 20404286 T G SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.461 p.L154R 0.856 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 OR4K1 HGNC ENSG00000155249 86 0 0 58 16 21.6216 OR4K17 0 genome.wustl.edu 37 14 20586502 20586502 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 20586502 20586502 T C SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known silent c.937 p.L313 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,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 OR4K17 HGNC ENSG00000176230 37 0 0 27 8 22.8571 TEP1 0 genome.wustl.edu 37 14 20851710 20851710 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 20851710 20851710 A G SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.3804 p.A1268 0.205 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 64 0 0 32 4 11.1111 MYH7 0 genome.wustl.edu 37 14 23886389 23886389 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 23886389 23886389 A C SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4492 p.F1498V 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 305 0 0 101 10 9.00901 ADCY4 0 genome.wustl.edu 37 14 24800432 24800432 + Nonsense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 24800432 24800432 T A SNP ADCY4 ENST00000396747 human ensembl 74_37 -1 known nonsense c.7 p.R3* 1.000 NULL pfam_Adenylate_cyclase-like,pfam_A/G_cyclase,superfamily_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 116 0 0 34 9 20.9302 NYNRIN 0 genome.wustl.edu 37 14 24885594 24885594 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 24885594 24885594 T C SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.4639 p.S1547P 0.991 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 26 0 0 15 4 21.0526 DAAM1 0 genome.wustl.edu 37 14 59835618 59835618 + RNA SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 59835618 59835618 C T SNP DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.920 - - - no_errors DAAM1 HGNC ENSG00000100592 18 0 0 1 9 90 TRMT5 0 genome.wustl.edu 37 14 61442562 61442562 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 61442562 61442562 A C SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known missense c.1075 p.F359V 1.000 pfam_tRNA_Trfase_Trm5/Tyw2 pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 109 0 0 83 15 15.3061 ZFYVE26 0 genome.wustl.edu 37 14 68256223 68256223 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 68256223 68256223 T G SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.2848 p.S950R 0.997 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 153 0 0 61 24 28.2353 LTBP2 0 genome.wustl.edu 37 14 74988674 74988674 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 74988674 74988674 A G SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.2728 p.S910P 0.999 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_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 86 0 0 28 5 15.1515 TSHR 0 genome.wustl.edu 37 14 81574972 81574972 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 81574972 81574972 A C SNP TSHR ENST00000554435 human ensembl 74_37 +1 known missense c.772 p.K258Q 0.008 NULL prints_TSH_rcpt,prints_FSH_rcpt - no_errors TSHR HGNC ENSG00000165409 100 0 0 81 11 11.9565 TTC8 0 genome.wustl.edu 37 14 89305909 89305909 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 89305909 89305909 A C SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known missense c.228 p.Q76H 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 104 0 0 48 10 17.2414 TDP1 0 genome.wustl.edu 37 14 90499478 90499478 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 90499478 90499478 A C SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.1673 p.K558T 0.999 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 52 0 0 20 10 33.3333 NRDE2 0 genome.wustl.edu 37 14 90764715 90764715 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 90764715 90764715 A G SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1555 p.F519L 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 77 0 0 39 5 11.3636 C14orf159 0 genome.wustl.edu 37 14 91691049 91691049 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 91691049 91691049 T G SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.1738 p.L580V 0.994 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 46 0 0 11 8 42.1053 PPP4R4 0 genome.wustl.edu 37 14 94708198 94708198 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 14 94708198 94708198 A C SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1050 p.Q350H 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 55 0 0 57 9 13.6364 LRRK1 0 genome.wustl.edu 37 15 101589862 101589862 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 101589862 101589862 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.3313 p.D1105N 0.981 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 71 0 0 37 15 28.8462 DNM1P47 0 genome.wustl.edu 37 15 102312774 102312774 + RNA SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 102312774 102312774 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors DNM1P47 HGNC ENSG00000259660 71 0 0 28 9 24.3243 GOLGA8I 0 genome.wustl.edu 37 15 23261106 23261106 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 23261106 23261106 C G SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known missense c.781 p.Q261E 0.035 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 122 0 0 48 13 21.3115 NPAP1 0 genome.wustl.edu 37 15 24923394 24923394 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 24923394 24923394 A C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2380 p.S794R 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 321 0 0 147 10 6.36943 SNORD115-40 0 genome.wustl.edu 37 15 25488810 25488810 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 25488810 25488810 A C SNP SNORD115-40 ENST00000606510 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SNORD115-40 HGNC ENSG00000272460 515 0 0 249 32 11.3879 GABRA5 0 genome.wustl.edu 37 15 27114462 27114462 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 27114462 27114462 A G SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.67 p.N23D 1.000 prints_GABBAa5_rcpt 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_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 55 0 0 56 17 23.2877 TRPM1 0 genome.wustl.edu 37 15 31339318 31339318 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 31339318 31339318 T G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1811 p.K604T 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 135 0 0 90 7 7.21649 PGBD4 0 genome.wustl.edu 37 15 34395727 34395727 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 34395727 34395727 A C SNP PGBD4 ENST00000397766 human ensembl 74_37 +1 known missense c.995 p.N332T 0.998 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 82 0 0 68 26 27.6596 THBS1 0 genome.wustl.edu 37 15 39885624 39885624 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 39885624 39885624 T G SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.3022 p.F1008V 1.000 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,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 THBS1 HGNC ENSG00000137801 395 0 0 387 29 6.97115 CASC5 0 genome.wustl.edu 37 15 40914465 40914465 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 40914465 40914465 C A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2081 p.T694K 0.004 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 90 0 0 66 20 23.2558 LTK 0 genome.wustl.edu 37 15 41796355 41796355 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 41796355 41796355 A C SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.2434 p.L812V 0.000 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 LTK HGNC ENSG00000062524 83 0 0 55 11 16.6667 LTK 0 genome.wustl.edu 37 15 41796356 41796356 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 41796356 41796356 A T SNP LTK ENST00000263800 human ensembl 74_37 -1 known silent c.2433 p.S811 0.001 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 LTK HGNC ENSG00000062524 85 0 0 55 11 16.6667 SPTBN5 0 genome.wustl.edu 37 15 42156167 42156167 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 42156167 42156167 T G SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.6974 p.K2325T 1.000 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 183 0 0 106 8 7.01754 EHD4 0 genome.wustl.edu 37 15 42193147 42193147 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 42193147 42193147 T C SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known missense c.1322 p.E441G 1.000 smart_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 78 0 0 54 8 12.9032 PLA2G4D 0 genome.wustl.edu 37 15 42373220 42373220 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 42373220 42373220 A G SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known missense c.1069 p.F357L 0.988 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 65 0 0 44 5 10.2041 CCNDBP1 0 genome.wustl.edu 37 15 43484948 43484948 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 43484948 43484948 G T SNP CCNDBP1 ENST00000300213 human ensembl 74_37 +1 known missense c.868 p.D290Y 1.000 NULL NULL - no_errors CCNDBP1 HGNC ENSG00000166946 67 0 0 57 23 28.75 CATSPER2P1 0 genome.wustl.edu 37 15 44036320 44036320 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 44036320 44036320 T G SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 26 0 0 16 5 23.8095 ATP8B4 0 genome.wustl.edu 37 15 50152626 50152626 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 50152626 50152626 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.3344 p.S1115N 0.003 NULL 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 ATP8B4 HGNC ENSG00000104043 127 0 0 79 5 5.95238 TRPM7 0 genome.wustl.edu 37 15 50902127 50902127 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 50902127 50902127 A G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.2312 p.I771T 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 TRPM7 HGNC ENSG00000092439 45 0 0 63 6 8.69565 DMXL2 0 genome.wustl.edu 37 15 51857327 51857327 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 51857327 51857327 A C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.322 p.F108V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 20 0 0 13 5 27.7778 MYO5A 0 genome.wustl.edu 37 15 52667649 52667649 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 52667649 52667649 T G SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2429 p.K810T 0.998 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS 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 48 0 0 52 4 7.14286 UNC13C 0 genome.wustl.edu 37 15 54307825 54307825 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 54307825 54307825 T A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2725 p.S909T 0.235 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 105 0 0 50 10 16.6667 DYX1C1 0 genome.wustl.edu 37 15 55783358 55783358 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 55783358 55783358 C T SNP DYX1C1 ENST00000321149 human ensembl 74_37 -1 known missense c.368 p.R123Q 0.838 superfamily_HSP20-like_chaperone pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 61 0 0 100 18 15.2542 CGNL1 0 genome.wustl.edu 37 15 57743743 57743743 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 57743743 57743743 A C SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.1849 p.S617R 0.855 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 68 0 0 68 8 10.5263 LACTB 0 genome.wustl.edu 37 15 63433967 63433967 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 63433967 63433967 A T SNP LACTB ENST00000261893 human ensembl 74_37 +1 known missense c.1607 p.K536M 1.000 superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 59 0 0 55 5 8.33333 HERC1 0 genome.wustl.edu 37 15 63966564 63966564 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 63966564 63966564 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.7823 p.Q2608R 1.000 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 66 0 0 30 11 26.8293 HERC1 0 genome.wustl.edu 37 15 63970195 63970195 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 63970195 63970195 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.6919 p.L2307 1.000 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 118 0 0 101 13 11.4035 PDCD7 0 genome.wustl.edu 37 15 65412073 65412073 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 65412073 65412073 T G SNP PDCD7 ENST00000204549 human ensembl 74_37 -1 known missense c.1229 p.K410T 1.000 NULL NULL - no_errors PDCD7 HGNC ENSG00000090470 89 0 0 120 7 5.51181 IQCH 0 genome.wustl.edu 37 15 67664882 67664882 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 67664882 67664882 A C SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.1187 p.K396T 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 211 0 0 181 13 6.70103 MAN2C1 0 genome.wustl.edu 37 15 75654237 75654237 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 75654237 75654237 G C SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.1060 p.Q354E 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 MAN2C1 HGNC ENSG00000140400 331 0 0 150 12 7.40741 C15orf27 0 genome.wustl.edu 37 15 76430105 76430105 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 76430105 76430105 A C SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.96 p.E32D 0.970 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 194 0 0 126 45 26.3158 C15orf26 0 genome.wustl.edu 37 15 81430438 81430438 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 81430438 81430438 T G SNP C15orf26 ENST00000286732 human ensembl 74_37 +1 known missense c.439 p.F147V 0.990 NULL NULL - no_errors C15orf26 HGNC ENSG00000156206 104 0 0 55 44 44.4444 TMC3 0 genome.wustl.edu 37 15 81644103 81644103 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 81644103 81644103 A C SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.1015 p.F339V 1.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 18 0 0 9 5 35.7143 TICRR 0 genome.wustl.edu 37 15 90126064 90126064 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 90126064 90126064 A G SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.802 p.S268G 0.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 104 0 0 102 10 8.92857 TICRR 0 genome.wustl.edu 37 15 90143840 90143840 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 90143840 90143840 A C SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.2077 p.S693R 0.953 NULL NULL - no_errors TICRR HGNC ENSG00000140534 24 0 0 12 3 20 IQGAP1 0 genome.wustl.edu 37 15 90996483 90996483 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 90996483 90996483 A G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known silent c.1446 p.S482 0.536 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 171 0 0 148 16 9.7561 IQGAP1 0 genome.wustl.edu 37 15 91017188 91017188 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 91017188 91017188 T G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.2494 p.F832V 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS 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 101 0 0 56 4 6.66667 BLM 0 genome.wustl.edu 37 15 91358484 91358484 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 91358484 91358484 T G SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.4229 p.L1410R 0.983 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,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 BLM HGNC ENSG00000197299 79 0 0 93 8 7.92079 PRC1 0 genome.wustl.edu 37 15 91524205 91524205 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 91524205 91524205 C T SNP PRC1 ENST00000394249 human ensembl 74_37 -1 known missense c.731 p.R244Q 0.951 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors PRC1 HGNC ENSG00000198901 135 0 0 71 28 28.2828 LOC101926911 0 genome.wustl.edu 37 15 91573220 91573220 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 91573220 91573220 A C SNP LOC101926911 ENST00000501381 human ensembl 74_37 +1 known rna NULL NULL 0.310 - - - no_errors AC068831.10 Clone_based_vega_gene ENSG00000214432 50 0 0 32 6 15.7895 SLCO3A1 0 genome.wustl.edu 37 15 92663821 92663821 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 15 92663821 92663821 A G SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1136 p.Q379R 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 278 0 0 184 69 27.2727 TSR3 0 genome.wustl.edu 37 16 1400202 1400202 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 1400202 1400202 T G SNP TSR3 ENST00000007390 human ensembl 74_37 -1 known missense c.560 p.K187T 0.999 pfam_DUF367 pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 60 0 0 11 3 21.4286 XYLT1 0 genome.wustl.edu 37 16 17228554 17228554 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 17228554 17228554 T G SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.1803 p.E601D 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 283 0 0 137 14 9.27152 ABCC6P1 0 genome.wustl.edu 37 16 18597208 18597208 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 18597208 18597208 T G SNP ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.905 - - - no_errors ABCC6P1 HGNC ENSG00000256340 110 0 0 29 13 30.9524 PKD1 0 genome.wustl.edu 37 16 2159146 2159146 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 2159146 2159146 A C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.6022 p.F2008V 1.000 pfam_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat 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 145 0 0 38 12 24 OTOA 0 genome.wustl.edu 37 16 21739716 21739716 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 21739716 21739716 A G SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.2213 p.K738R 0.999 NULL NULL - no_errors OTOA HGNC ENSG00000155719 84 0 0 32 3 8.57143 ECI1 0 genome.wustl.edu 37 16 2290019 2290019 + Silent SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 2290019 2290019 C A SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known silent c.870 p.L290 0.650 NULL pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 113 0 0 55 9 14.0625 UBFD1 0 genome.wustl.edu 37 16 23578341 23578341 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 23578341 23578341 A C SNP UBFD1 ENST00000219638 human ensembl 74_37 +1 known missense c.1442 p.K481T 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC ENSG00000103353 108 0 0 39 21 35 SRRM2 0 genome.wustl.edu 37 16 2817433 2817433 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 2817433 2817433 A C SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.6904 p.T2302P 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 540 0 0 334 24 6.70391 TAOK2 0 genome.wustl.edu 37 16 29990301 29990301 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 29990301 29990301 A C SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.359 p.K120T 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 TAOK2 HGNC ENSG00000149930 172 0 0 88 13 12.8713 TAOK2 0 genome.wustl.edu 37 16 30002181 30002181 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 30002181 30002181 A G SNP TAOK2 ENST00000279394 human ensembl 74_37 +1 known missense c.2522 p.N841S 1.000 NULL 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 TAOK2 HGNC ENSG00000149930 173 0 0 48 9 15.7895 BCKDK 0 genome.wustl.edu 37 16 31121524 31121524 + Splice_Site SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 31121524 31121524 A T SNP BCKDK ENST00000219794 human ensembl 74_37 +1 known splice_site c.424-2 e5-2 1.000 - - - no_errors BCKDK HGNC ENSG00000103507 150 0 0 58 8 12.1212 ITGAX 0 genome.wustl.edu 37 16 31374579 31374579 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 31374579 31374579 A C SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.1594 p.N532H 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 284 0 0 126 16 11.2676 ABCC12 0 genome.wustl.edu 37 16 48174827 48174827 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 48174827 48174827 A C SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.428 p.I143S 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 73 0 0 26 16 38.0952 NOD2 0 genome.wustl.edu 37 16 50750503 50750503 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 50750503 50750503 G A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.2468 p.R823H 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 33 0 0 21 3 12.5 SALL1 0 genome.wustl.edu 37 16 51175945 51175945 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 51175945 51175945 T G SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.188 p.K63T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 188 0 0 77 33 30 KIFC3 0 genome.wustl.edu 37 16 57800863 57800863 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 57800863 57800863 T A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.1253 p.N418I 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 144 0 0 47 21 30.8824 CDH11 0 genome.wustl.edu 37 16 65005898 65005898 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 65005898 65005898 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1460 p.K487R 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 43 0 0 9 15 62.5 PLA2G15 0 genome.wustl.edu 37 16 68288856 68288856 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 68288856 68288856 T G SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.319 p.F107V 0.006 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 109 0 0 43 15 25.8621 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 102 1 0.970874 43 12 21.8182 TAT 0 genome.wustl.edu 37 16 71606172 71606172 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 71606172 71606172 T G SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.623 p.K208T 1.000 pfam_Aminotransferase_I/II,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 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 104 0 0 39 11 22 CDH13 0 genome.wustl.edu 37 16 83711957 83711957 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 16 83711957 83711957 T G SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.1429 p.F477V 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 127 0 0 53 11 17.1875 MYH8 0 genome.wustl.edu 37 17 10312755 10312755 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 10312755 10312755 A C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.1738 p.F580V 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,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 147 0 0 79 19 19.3878 MYH1 0 genome.wustl.edu 37 17 10399818 10399818 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 10399818 10399818 A C SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4705 p.L1569V 0.910 pfam_Myosin_tail 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,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 112 0 0 73 44 37.6068 MYH2 0 genome.wustl.edu 37 17 10430318 10430318 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 10430318 10430318 T C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.3927 p.R1309 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 45 0 0 34 9 20.9302 MYH2 0 genome.wustl.edu 37 17 10446197 10446197 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 10446197 10446197 A C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.899 p.L300R 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,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 24 0 0 13 3 18.75 MYH3 0 genome.wustl.edu 37 17 10543950 10543950 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 10543950 10543950 T G SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.2219 p.K740T 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 71 0 0 47 16 25.3968 DNAH9 0 genome.wustl.edu 37 17 11827151 11827151 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 11827151 11827151 T G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11770 p.F3924V 1.000 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 DNAH9 HGNC ENSG00000007174 67 0 0 49 7 12.5 TNFRSF13B 0 genome.wustl.edu 37 17 16852058 16852058 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 16852058 16852058 T C SNP TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known missense c.439 p.S147G 0.003 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 148 0 0 86 12 12.2449 USP32P2 0 genome.wustl.edu 37 17 18420621 18420621 + RNA SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 18420621 18420621 T C SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.857 - - - no_errors USP32P2 HGNC ENSG00000233327 74 0 0 28 4 12.5 FBXW10 0 genome.wustl.edu 37 17 18651282 18651282 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 18651282 18651282 T G SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.534 p.C178W 0.394 NULL 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 50 0 0 17 6 26.087 ULK2 0 genome.wustl.edu 37 17 19705149 19705149 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 19705149 19705149 T C SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.1382 p.Q461R 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 276 0 0 144 14 8.86076 KIAA0100 0 genome.wustl.edu 37 17 26943707 26943707 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 26943707 26943707 A T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.6086 p.F2029Y 1.000 pfam_FMP27_C pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 109 0 0 114 7 5.78512 NF1 0 genome.wustl.edu 37 17 29665018 29665018 + Splice_Site SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 29665018 29665018 A C SNP NF1 ENST00000444181 human ensembl 74_37 +1 known splice_site c.61-2 e2-2 0.052 - - - no_errors NF1 HGNC ENSG00000196712 90 0 0 64 7 9.85915 OR1E2 0 genome.wustl.edu 37 17 3336511 3336511 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 3336511 3336511 A C SNP OR1E2 ENST00000248384 human ensembl 74_37 -1 known missense c.625 p.F209V 0.025 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 OR1E2 HGNC ENSG00000127780 70 0 0 24 6 20 UNC45B 0 genome.wustl.edu 37 17 33510482 33510482 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 33510482 33510482 C A SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.2416 p.L806M 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 90 0 0 40 3 6.97674 CCL3 0 genome.wustl.edu 37 17 34416541 34416541 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 34416541 34416541 T G SNP CCL3 ENST00000225245 human ensembl 74_37 -1 known missense c.176 p.K59T 0.997 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL3 HGNC ENSG00000006075 131 0 0 75 17 18.4783 SRCIN1 0 genome.wustl.edu 37 17 36708201 36708201 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 36708201 36708201 A C SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.2648 p.L883R 0.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 92 0 0 48 12 20 LRRC37A11P 0 genome.wustl.edu 37 17 37186565 37186565 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 37186565 37186565 A C SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 35 0 0 19 6 24 LRRC37A11P 0 genome.wustl.edu 37 17 37187986 37187986 + RNA SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 37187986 37187986 T C SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 49 0 0 42 8 16 CACNB1 0 genome.wustl.edu 37 17 37341394 37341394 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 37341394 37341394 T G SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known missense c.638 p.K213T 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 67 0 0 45 3 6.25 CDK12 0 genome.wustl.edu 37 17 37667858 37667858 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 37667858 37667858 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2743 p.P915S 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 CDK12 HGNC ENSG00000167258 82 0 0 32 29 47.541 GSDMA 0 genome.wustl.edu 37 17 38130640 38130640 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 38130640 38130640 T G SNP GSDMA ENST00000301659 human ensembl 74_37 +1 known missense c.866 p.L289R 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 23 0 0 14 4 22.2222 KRT222 0 genome.wustl.edu 37 17 38816273 38816273 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 38816273 38816273 T C SNP KRT222 ENST00000394052 human ensembl 74_37 -1 known missense c.412 p.T138A 0.988 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 139 0 0 190 12 5.94059 KRT34 0 genome.wustl.edu 37 17 39537321 39537321 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 39537321 39537321 T G SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.701 p.K234T 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 120 0 0 78 9 10.3448 NT5C3B 0 genome.wustl.edu 37 17 39987098 39987098 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 39987098 39987098 T C SNP NT5C3B ENST00000269534 human ensembl 74_37 -1 known missense c.335 p.K112R 0.973 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3B HGNC ENSG00000141698 98 0 0 48 20 29.4118 KCNH4 0 genome.wustl.edu 37 17 40314288 40314288 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 40314288 40314288 T G SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.2636 p.K879T 0.998 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 86 0 0 48 4 7.69231 WNK4 0 genome.wustl.edu 37 17 40936492 40936492 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 40936492 40936492 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known silent c.1065 p.A355 0.022 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_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 40 0 0 25 16 39.0244 CD300LG 0 genome.wustl.edu 37 17 41926086 41926086 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 41926086 41926086 A C SNP CD300LG ENST00000317310 human ensembl 74_37 +1 known missense c.204 p.E68D 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LG HGNC ENSG00000161649 119 0 0 78 24 23.5294 DBF4B 0 genome.wustl.edu 37 17 42809588 42809588 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 42809588 42809588 C T SNP DBF4B ENST00000315005 human ensembl 74_37 +1 known silent c.511 p.L171 1.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 57 0 0 25 15 37.5 ENSG00000267344 0 genome.wustl.edu 37 17 43474468 43474468 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 43474468 43474468 A C SNP ENSG00000267344 ENST00000592389 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-39G8.3 Clone_based_vega_gene ENSG00000267344 49 0 0 16 9 36 GGT6 0 genome.wustl.edu 37 17 4461803 4461803 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 4461803 4461803 G T SNP GGT6 ENST00000574154 human ensembl 74_37 -1 known missense c.989 p.S330Y 0.007 prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 28 0 0 12 3 20 HOXB2 0 genome.wustl.edu 37 17 46620515 46620515 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 46620515 46620515 G C SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known missense c.986 p.S329C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 185 0 0 122 15 10.9489 SPAG9 0 genome.wustl.edu 37 17 49048213 49048213 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 49048213 49048213 T C SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known silent c.3705 p.Q1235 0.998 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 69 0 0 44 13 22.807 MBTD1 0 genome.wustl.edu 37 17 49281253 49281253 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 49281253 49281253 T C SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known missense c.638 p.E213G 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 204 0 0 171 22 11.399 CA10 0 genome.wustl.edu 37 17 49710922 49710922 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 49710922 49710922 G T SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.897 p.N299K 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 110 0 0 69 16 18.8235 CA10 0 genome.wustl.edu 37 17 49710923 49710923 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 49710923 49710923 T G SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.896 p.N299T 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 111 0 0 69 16 18.8235 TMEM100 0 genome.wustl.edu 37 17 53798348 53798348 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 53798348 53798348 T G SNP TMEM100 ENST00000424486 human ensembl 74_37 -1 known missense c.84 p.E28D 0.001 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 191 0 0 98 35 26.3158 ANKFN1 0 genome.wustl.edu 37 17 54535229 54535229 + Silent SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 54535229 54535229 T A SNP ANKFN1 ENST00000318698 human ensembl 74_37 +1 known silent c.1455 p.S485 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 126 0 0 82 32 28.0702 EPX 0 genome.wustl.edu 37 17 56281627 56281627 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 56281627 56281627 A T SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.1991 p.K664M 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 104 0 0 49 10 16.9492 PPM1E 0 genome.wustl.edu 37 17 57033078 57033078 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 57033078 57033078 T C SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.533 p.L178P 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 80 0 0 77 17 18.0851 USP32 0 genome.wustl.edu 37 17 58288813 58288813 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 58288813 58288813 T C SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.2242 p.S748G 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 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 130 0 0 170 17 9.09091 SLC39A11 0 genome.wustl.edu 37 17 70643739 70643739 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 70643739 70643739 T C SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known missense c.1013 p.D338G 0.999 NULL pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 72 0 0 23 3 11.5385 DVL2 0 genome.wustl.edu 37 17 7133690 7133690 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 7133690 7133690 T C SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known silent c.324 p.A108 0.853 NULL 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_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 186 0 0 67 13 16.25 EIF5A 0 genome.wustl.edu 37 17 7214775 7214775 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 7214775 7214775 A C SNP EIF5A ENST00000336452 human ensembl 74_37 +1 known missense c.467 p.K156T 1.000 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_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 197 0 0 86 9 9.47368 TTYH2 0 genome.wustl.edu 37 17 72218654 72218654 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 72218654 72218654 G A SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.160 p.V54I 0.474 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 116 0 0 53 20 27.3973 CD300C 0 genome.wustl.edu 37 17 72539080 72539080 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 72539080 72539080 T G SNP CD300C ENST00000330793 human ensembl 74_37 -1 known silent c.447 p.S149 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300C HGNC ENSG00000167850 86 0 0 54 6 10 C17orf77 0 genome.wustl.edu 37 17 72588570 72588570 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 72588570 72588570 T G SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known missense c.385 p.F129V 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 145 0 0 98 11 10.0917 SAP30BP 0 genome.wustl.edu 37 17 73699940 73699940 + Splice_Site SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 73699940 73699940 G A SNP SAP30BP ENST00000584667 human ensembl 74_37 +1 known splice_site c.601+1 e8+1 1.000 - - - no_errors SAP30BP HGNC ENSG00000161526 183 0 0 118 42 26.25 ITGB4 0 genome.wustl.edu 37 17 73751203 73751203 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 73751203 73751203 T C SNP ITGB4 ENST00000339591 human ensembl 74_37 +1 known silent c.4416 p.S1472 0.379 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 30 0 0 26 3 10.3448 UNK 0 genome.wustl.edu 37 17 73805920 73805920 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 73805920 73805920 T C SNP UNK ENST00000293218 human ensembl 74_37 +1 known missense c.412 p.F138L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 79 0 0 49 5 9.25926 UBE2O 0 genome.wustl.edu 37 17 74391894 74391894 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 74391894 74391894 T C SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.2858 p.K953R 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 171 0 0 99 21 17.5 SHBG 0 genome.wustl.edu 37 17 7534049 7534049 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 7534049 7534049 T G SNP SHBG ENST00000380450 human ensembl 74_37 +1 known missense c.255 p.F85L 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,pfscan_Laminin_G - no_errors SHBG HGNC ENSG00000129214 56 0 0 31 3 8.82353 TP53 0 genome.wustl.edu 37 17 7578446 7578446 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 7578446 7578446 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.484 p.I162F 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 106 0 0 13 27 67.5 CCDC40 0 genome.wustl.edu 37 17 78055422 78055422 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 78055422 78055422 A G SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1640 p.K547R 0.998 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 118 0 0 64 4 5.88235 TSPAN10 0 genome.wustl.edu 37 17 79612482 79612482 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 79612482 79612482 G A SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known silent c.501 p.A167 0.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 19 0 0 7 8 53.3333 TSPAN10 0 genome.wustl.edu 37 17 79612483 79612483 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 79612483 79612483 G T SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known missense c.502 p.G168W 0.372 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 18 0 0 11 4 26.6667 P4HB 0 genome.wustl.edu 37 17 79804384 79804384 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 79804384 79804384 T C SNP P4HB ENST00000331483 human ensembl 74_37 -1 known missense c.977 p.K326R 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 135 0 0 82 9 9.89011 RAC3 0 genome.wustl.edu 37 17 79991331 79991331 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 79991331 79991331 C T SNP RAC3 ENST00000306897 human ensembl 74_37 +1 known missense c.304 p.R102W 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,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 RAC3 HGNC ENSG00000169750 56 0 0 33 5 13.1579 CTC1 0 genome.wustl.edu 37 17 8132666 8132666 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 8132666 8132666 A C SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known missense c.3110 p.L1037R 1.000 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 269 0 0 92 10 9.80392 MYH10 0 genome.wustl.edu 37 17 8526317 8526317 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 17 8526317 8526317 T G SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.248 p.K83T 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 172 0 0 96 60 38.4615 CEP192 0 genome.wustl.edu 37 18 13116434 13116434 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 13116434 13116434 C T SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.7348 p.P2450S 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 82 0 0 33 3 8.33333 C18orf8 0 genome.wustl.edu 37 18 21099083 21099083 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 21099083 21099083 A T SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.794 p.K265M 1.000 NULL pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 83 0 0 56 17 23.2877 LAMA3 0 genome.wustl.edu 37 18 21343437 21343437 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 21343437 21343437 T G SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.1132 p.L378V 0.986 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin 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 137 1 0.724638 77 22 22.2222 SMCHD1 0 genome.wustl.edu 37 18 2718418 2718418 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 2718418 2718418 A C SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.2444 p.K815T 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 68 0 0 29 8 21.6216 EMILIN2 0 genome.wustl.edu 37 18 2892320 2892320 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 2892320 2892320 A C SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.2195 p.K732T 0.177 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 98 0 0 61 5 7.57576 DTNA 0 genome.wustl.edu 37 18 32443968 32443968 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 32443968 32443968 T C SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.1607 p.L536P 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 19 0 0 12 9 42.8571 MAPRE2 0 genome.wustl.edu 37 18 32706939 32706939 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 32706939 32706939 A C SNP MAPRE2 ENST00000300249 human ensembl 74_37 +1 known missense c.638 p.K213T 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE2 HGNC ENSG00000166974 84 0 0 72 5 6.49351 MAPRE2 0 genome.wustl.edu 37 18 32712012 32712012 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 32712012 32712012 T G SNP MAPRE2 ENST00000300249 human ensembl 74_37 +1 known missense c.767 p.L256R 1.000 superfamily_EB1_C pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE2 HGNC ENSG00000166974 42 0 0 36 7 16.2791 SYT4 0 genome.wustl.edu 37 18 40854220 40854220 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 40854220 40854220 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known silent c.174 p.K58 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 40 0 0 42 6 12.5 SETBP1 0 genome.wustl.edu 37 18 42531398 42531398 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 42531398 42531398 C A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2093 p.T698N 0.955 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 91 0 0 40 15 27.2727 SETBP1 0 genome.wustl.edu 37 18 42618511 42618511 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 42618511 42618511 A C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.4062 p.S1354 0.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 95 0 0 30 23 43.3962 EPG5 0 genome.wustl.edu 37 18 43534958 43534958 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 43534958 43534958 T G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.410 p.N137T 0.122 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 106 0 0 71 4 5.33333 CCDC11 0 genome.wustl.edu 37 18 47769287 47769287 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 47769287 47769287 A C SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.1196 p.L399R 0.996 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 207 0 0 158 64 28.8288 ME2 0 genome.wustl.edu 37 18 48443784 48443784 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 48443784 48443784 T G SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.536 p.I179S 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 94 0 0 75 14 15.7303 SERPINB12 0 genome.wustl.edu 37 18 61234015 61234015 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 61234015 61234015 T G SNP SERPINB12 ENST00000269491 human ensembl 74_37 +1 known missense c.989 p.L330R 0.898 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 156 0 0 162 16 8.98876 FBXO15 0 genome.wustl.edu 37 18 71797672 71797672 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 71797672 71797672 A C SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.554 p.V185G 0.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 70 0 0 54 7 11.4754 SALL3 0 genome.wustl.edu 37 18 76753954 76753954 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 18 76753954 76753954 T C SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1963 p.S655P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 36 0 0 10 7 41.1765 AP1M2 0 genome.wustl.edu 37 19 10685617 10685617 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 10685617 10685617 T C SNP AP1M2 ENST00000590923 human ensembl 74_37 -1 known missense c.1142 p.K381R 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C 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 AP1M2 HGNC ENSG00000129354 28 0 0 6 4 40 CCDC159 0 genome.wustl.edu 37 19 11460642 11460642 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 11460642 11460642 C T SNP CCDC159 ENST00000590919 human ensembl 74_37 +1 known missense c.91 p.P31S 0.172 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 54 0 0 14 6 30 ZNF833P 0 genome.wustl.edu 37 19 11796366 11796366 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 11796366 11796366 T G SNP ZNF833P ENST00000344893 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF833P HGNC ENSG00000197332 37 0 0 37 4 9.7561 ZNF491 0 genome.wustl.edu 37 19 11917360 11917360 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 11917360 11917360 T G SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known missense c.592 p.F198V 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 60 0 0 33 7 17.5 ZNF491 0 genome.wustl.edu 37 19 11917993 11917993 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 11917993 11917993 A C SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known missense c.1225 p.K409Q 0.677 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 37 0 0 27 5 15.625 MAST1 0 genome.wustl.edu 37 19 12979894 12979894 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 12979894 12979894 A C SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.2788 p.S930R 0.998 superfamily_PDZ 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 MAST1 HGNC ENSG00000105613 118 0 0 35 16 31.3725 SYCE2 0 genome.wustl.edu 37 19 13015434 13015434 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 13015434 13015434 A C SNP SYCE2 ENST00000293695 human ensembl 74_37 -1 known missense c.178 p.F60V 0.939 NULL NULL - no_errors SYCE2 HGNC ENSG00000161860 243 0 0 94 48 33.8028 ZNF728 0 genome.wustl.edu 37 19 23159902 23159902 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 23159902 23159902 A G SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel silent c.237 p.S79 0.972 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 ZNF728 HGNC ENSG00000269067 41 0 0 16 7 30.4348 ZNF730 0 genome.wustl.edu 37 19 23328922 23328922 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 23328922 23328922 A C SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1076 p.K359T 0.969 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 ZNF730 HGNC ENSG00000183850 30 0 0 14 3 17.6471 ZNF461 0 genome.wustl.edu 37 19 37130036 37130036 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 37130036 37130036 T C SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.1211 p.Q404R 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 ZNF461 HGNC ENSG00000197808 106 0 0 66 25 27.4725 ZNF570 0 genome.wustl.edu 37 19 37961217 37961217 + Silent SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 37961217 37961217 C G SNP ZNF570 ENST00000586475 human ensembl 74_37 +1 putative silent c.129 p.A43 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 ZNF570 HGNC ENSG00000171827 114 0 0 63 5 7.35294 ZNF781 0 genome.wustl.edu 37 19 38160980 38160980 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 38160980 38160980 G C SNP ZNF781 ENST00000358582 human ensembl 74_37 -1 known missense c.70 p.Q24E 0.448 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 113 0 0 108 10 8.47458 ZNF780B 0 genome.wustl.edu 37 19 40542307 40542307 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 40542307 40542307 A G SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known silent c.459 p.T153 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 ZNF780B HGNC ENSG00000128000 36 0 0 37 3 7.5 CYP2B7P1 0 genome.wustl.edu 37 19 41455101 41455101 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 41455101 41455101 A C SNP CYP2B7P1 ENST00000599198 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 51 0 0 16 4 20 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 187 0 0 62 30 32.6087 TMEM145 0 genome.wustl.edu 37 19 42822014 42822014 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 42822014 42822014 T C SNP TMEM145 ENST00000301204 human ensembl 74_37 +1 known missense c.1054 p.F352L 1.000 pfam_Intimal_thickness-rel_rcpt pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 142 0 0 48 5 9.43396 PSG1 0 genome.wustl.edu 37 19 43376021 43376021 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 43376021 43376021 A C SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.607 p.F203V 0.012 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 321 0 0 310 73 19.0601 ZNF45 0 genome.wustl.edu 37 19 44418060 44418060 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 44418060 44418060 T C SNP ZNF45 ENST00000269973 human ensembl 74_37 -1 known missense c.1528 p.S510G 0.061 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 68 0 0 42 6 12.5 ZNF235 0 genome.wustl.edu 37 19 44792778 44792778 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 44792778 44792778 T G SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.810 p.E270D 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 ZNF235 HGNC ENSG00000159917 50 0 0 78 6 7.14286 SNRPD2 0 genome.wustl.edu 37 19 46190914 46190914 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 46190914 46190914 T C SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known missense c.254 p.K85R 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 134 0 0 63 10 13.6986 SYMPK 0 genome.wustl.edu 37 19 46355623 46355623 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 46355623 46355623 T G SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known silent c.246 p.A82 0.993 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 226 0 0 121 10 7.63359 IRF2BP1 0 genome.wustl.edu 37 19 46388986 46388986 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 46388986 46388986 T G SNP IRF2BP1 ENST00000302165 human ensembl 74_37 -1 known missense c.47 p.D16A 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 53 0 0 18 6 25 CCDC61 0 genome.wustl.edu 37 19 46506709 46506709 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 46506709 46506709 T C SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.352 p.F118L 1.000 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 39 0 0 21 5 19.2308 PNMAL2 0 genome.wustl.edu 37 19 46998655 46998655 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 46998655 46998655 A G SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.68 p.V23A 0.995 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 99 0 0 57 4 6.55738 CCDC9 0 genome.wustl.edu 37 19 47769965 47769965 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 47769965 47769965 A T SNP CCDC9 ENST00000221922 human ensembl 74_37 +1 known missense c.818 p.K273M 0.998 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 37 0 0 12 4 25 TICAM1 0 genome.wustl.edu 37 19 4818198 4818198 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 4818198 4818198 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.192 p.L64 0.074 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 50 0 0 22 6 21.4286 CCDC114 0 genome.wustl.edu 37 19 48806918 48806918 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 48806918 48806918 T G SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.866 p.K289T 1.000 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 100 0 0 82 6 6.81818 KCNA7 0 genome.wustl.edu 37 19 49573431 49573431 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 49573431 49573431 A T SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known silent c.1260 p.P420 1.000 NULL 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_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 116 0 0 62 18 22.5 ZNF473 0 genome.wustl.edu 37 19 50549984 50549984 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 50549984 50549984 G A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.2284 p.E762K 0.618 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 ZNF473 HGNC ENSG00000142528 121 0 0 68 4 5.55556 SYT3 0 genome.wustl.edu 37 19 51133141 51133141 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 51133141 51133141 A G SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.962 p.L321P 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 238 0 0 119 9 7.03125 SIGLECL1 0 genome.wustl.edu 37 19 51768881 51768881 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 51768881 51768881 T G SNP SIGLECL1 ENST00000316401 human ensembl 74_37 +1 known silent c.282 p.A94 0.002 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 181 0 0 108 9 7.69231 SIGLEC6 0 genome.wustl.edu 37 19 52033695 52033695 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 52033695 52033695 G A SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known silent c.750 p.S250 0.069 pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 71 0 0 7 23 76.6667 ZNF677 0 genome.wustl.edu 37 19 53741699 53741699 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 53741699 53741699 A C SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.281 p.F94C 0.531 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 76 0 0 77 14 15.3846 ZNF813 0 genome.wustl.edu 37 19 53994119 53994119 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 53994119 53994119 A G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known silent c.633 p.R211 0.706 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 ZNF813 HGNC ENSG00000198346 130 0 0 107 13 10.8333 OSCAR 0 genome.wustl.edu 37 19 54600427 54600427 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 54600427 54600427 T C SNP OSCAR ENST00000356532 human ensembl 74_37 -1 known missense c.107 p.K36R 0.997 NULL smart_Ig_sub - no_errors OSCAR HGNC ENSG00000170909 142 0 0 72 19 20.8791 LILRB5 0 genome.wustl.edu 37 19 54761053 54761053 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 54761053 54761053 T G SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.4 p.T2P 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 114 0 0 35 9 20.4545 LILRB2 0 genome.wustl.edu 37 19 54783401 54783401 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 54783401 54783401 A G SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.457 p.F153L 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 195 0 0 96 7 6.79612 LILRB1 0 genome.wustl.edu 37 19 55143071 55143071 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 55143071 55143071 A C SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.191 p.K64T 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 177 0 0 77 17 18.0851 ENSG00000215765 0 genome.wustl.edu 37 19 55301612 55301612 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 55301612 55301612 T G SNP ENSG00000215765 ENST00000400864 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-61M7.1 Clone_based_vega_gene ENSG00000215765 110 0 0 75 22 22.6804 NLRP7 0 genome.wustl.edu 37 19 55451644 55451644 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 55451644 55451644 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.627 p.G209 0.153 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 226 0 0 144 17 10.559 NLRP8 0 genome.wustl.edu 37 19 56467099 56467099 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 56467099 56467099 T G SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1675 p.L559V 0.008 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 NLRP8 HGNC ENSG00000179709 79 0 0 60 5 7.69231 ZNF582 0 genome.wustl.edu 37 19 56895607 56895607 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 56895607 56895607 T C SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known silent c.1179 p.K393 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 ZNF582 HGNC ENSG00000018869 98 0 0 80 26 24.5283 ZNF471 0 genome.wustl.edu 37 19 57036726 57036726 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 57036726 57036726 T C SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known silent c.1290 p.P430 0.313 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 99 0 0 61 12 16.4384 PEG3 0 genome.wustl.edu 37 19 57325574 57325574 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 57325574 57325574 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.4236 p.E1412 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 129 0 0 69 23 25 PEG3 0 genome.wustl.edu 37 19 57328547 57328547 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 57328547 57328547 C G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1263 p.E421D 0.096 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 191 0 0 145 11 7.05128 PEG3 0 genome.wustl.edu 37 19 57328612 57328612 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 57328612 57328612 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1198 p.G400R 0.024 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 152 0 0 106 12 10.1695 ZIM3 0 genome.wustl.edu 37 19 57648269 57648269 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 57648269 57648269 T G SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known missense c.213 p.E71D 0.000 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 ZIM3 HGNC ENSG00000141946 130 0 0 54 27 33.3333 ZSCAN1 0 genome.wustl.edu 37 19 58549309 58549309 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 58549309 58549309 A G SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.105 p.E35 0.014 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN 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 ZSCAN1 HGNC ENSG00000152467 43 0 0 18 6 25 EMR1 0 genome.wustl.edu 37 19 6921819 6921819 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 6921819 6921819 T C SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known silent c.1716 p.A572 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 64 0 0 35 20 36.3636 LRRC8E 0 genome.wustl.edu 37 19 7963820 7963820 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 7963820 7963820 A G SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.413 p.K138R 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 201 1 0.49505 63 28 30.7692 MUC16 0 genome.wustl.edu 37 19 8999559 8999559 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 8999559 8999559 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40616 p.K13539T 0.001 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 144 0 0 79 12 13.1868 MUC16 0 genome.wustl.edu 37 19 9070034 9070034 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 9070034 9070034 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.17412 p.S5804 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 106 0 0 66 11 14.2857 MUC16 0 genome.wustl.edu 37 19 9074873 9074873 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 9074873 9074873 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.12573 p.S4191 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 105 0 0 49 5 9.25926 MUC16 0 genome.wustl.edu 37 19 9084689 9084689 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 9084689 9084689 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7126 p.T2376A 0.169 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 66 0 0 26 12 31.5789 MUC16 0 genome.wustl.edu 37 19 9085876 9085876 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 9085876 9085876 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5939 p.I1980S 0.320 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 107 0 0 55 19 25.6757 OR7E24 0 genome.wustl.edu 37 19 9362093 9362093 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 19 9362093 9362093 T G SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.374 p.F125C 0.026 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 OR7E24 HGNC ENSG00000237521 67 0 0 42 6 12.5 IL1RL1 0 genome.wustl.edu 37 2 102959826 102959826 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 102959826 102959826 T G SNP IL1RL1 ENST00000233954 human ensembl 74_37 +1 known missense c.921 p.N307K 0.000 smart_Ig_sub,prints_IL-1_rcpt_I/II-typ,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 168 1 0.591716 189 14 6.89655 GPR45 0 genome.wustl.edu 37 2 105859262 105859262 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 105859262 105859262 A G SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.947 p.K316R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 215 0 0 168 43 20.3791 ST6GAL2 0 genome.wustl.edu 37 2 107460346 107460346 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 107460346 107460346 A C SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.88 p.F30V 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 80 0 0 49 12 19.6721 SULT1C3 0 genome.wustl.edu 37 2 108863796 108863796 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 108863796 108863796 T G SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known missense c.146 p.L49R 0.817 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 94 0 0 90 18 16.6667 IL1RN 0 genome.wustl.edu 37 2 113890280 113890280 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 113890280 113890280 C T SNP IL1RN ENST00000259206 human ensembl 74_37 +1 known silent c.375 p.R125 0.992 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL1RN HGNC ENSG00000136689 160 0 0 100 7 6.54206 PCDP1 0 genome.wustl.edu 37 2 120366116 120366116 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 120366116 120366116 T G SNP PCDP1 ENST00000413369 human ensembl 74_37 +1 known missense c.1172 p.L391R 0.001 NULL NULL - no_errors PCDP1 Uniprot_gn ENSG00000163075 153 0 0 177 10 5.34759 PCDP1 0 genome.wustl.edu 37 2 120387510 120387510 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 120387510 120387510 T G SNP PCDP1 ENST00000413369 human ensembl 74_37 +1 known missense c.1710 p.S570R 0.001 NULL NULL - no_errors PCDP1 Uniprot_gn ENSG00000163075 47 0 0 63 10 13.6986 MYO7B 0 genome.wustl.edu 37 2 128322862 128322862 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 128322862 128322862 T C SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.187 p.S63P 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_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 59 0 0 41 5 10.8696 MYO7B 0 genome.wustl.edu 37 2 128324348 128324348 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 128324348 128324348 A C SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.416 p.N139T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_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 60 0 0 28 9 24.3243 MYO7B 0 genome.wustl.edu 37 2 128342423 128342423 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 128342423 128342423 A C SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1625 p.K542T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_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 203 0 0 90 40 30.7692 POTEE 0 genome.wustl.edu 37 2 131976386 131976386 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 131976386 131976386 A C SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.411 p.G137 0.001 superfamily_Ankyrin_rpt-contain_dom pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 160 0 0 74 21 22.1053 POTEE 0 genome.wustl.edu 37 2 132021841 132021841 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 132021841 132021841 A G SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2813 p.K938R 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 407 1 0.245098 239 15 5.90551 MGAT5 0 genome.wustl.edu 37 2 135099202 135099202 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 135099202 135099202 T G SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.849 p.F283L 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 74 0 0 39 4 9.30233 MCM6 0 genome.wustl.edu 37 2 136623713 136623713 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 136623713 136623713 T G SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.916 p.T306P 1.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 101 0 0 70 7 9.09091 KIF5C 0 genome.wustl.edu 37 2 149847707 149847707 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 149847707 149847707 T C SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.1900 p.S634P 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 40 0 0 20 3 13.0435 ENSG00000227400 0 genome.wustl.edu 37 2 154278171 154278171 + RNA SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 154278171 154278171 G A SNP ENSG00000227400 ENST00000454312 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC012501.2 Clone_based_vega_gene ENSG00000227400 25 0 0 8 5 38.4615 KCNJ3 0 genome.wustl.edu 37 2 155711631 155711631 + Nonsense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 155711631 155711631 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known nonsense c.1312 p.Q438* 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 122 0 0 89 18 16.8224 LY75 0 genome.wustl.edu 37 2 160667104 160667104 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 160667104 160667104 A G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known silent c.4632 p.G1544 0.389 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 187 0 0 157 18 10.2857 PLA2R1 0 genome.wustl.edu 37 2 160876695 160876695 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 160876695 160876695 G A SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known silent c.1374 p.V458 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 PLA2R1 HGNC ENSG00000153246 54 0 0 32 14 30.4348 SLC4A10 0 genome.wustl.edu 37 2 162627547 162627547 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 162627547 162627547 A G SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.113 p.E38G 1.000 NULL 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 SLC4A10 HGNC ENSG00000144290 14 0 0 8 4 33.3333 SCN9A 0 genome.wustl.edu 37 2 167162347 167162347 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 167162347 167162347 A C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.554 p.L185R 1.000 pfam_Ion_trans_dom 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 85 0 0 65 18 21.6867 OSBPL6 0 genome.wustl.edu 37 2 179214014 179214014 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179214014 179214014 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1063 p.D355N 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 224 0 0 200 66 24.812 TTN 0 genome.wustl.edu 37 2 179418814 179418814 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179418814 179418814 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.81320 p.K27107R 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 146 0 0 127 40 23.9521 TTN 0 genome.wustl.edu 37 2 179442423 179442423 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179442423 179442423 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.61026 p.G20342 0.994 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 67 0 0 92 5 5.15464 TTN 0 genome.wustl.edu 37 2 179444488 179444488 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179444488 179444488 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59732 p.G19911D 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 109 0 0 49 54 52.4272 TTN 0 genome.wustl.edu 37 2 179586740 179586740 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179586740 179586740 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.18918 p.K6306 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 192 0 0 187 55 22.7273 TTN 0 genome.wustl.edu 37 2 179604861 179604861 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179604861 179604861 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12586 p.K4196Q 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 85 0 0 70 13 15.6627 TTN 0 genome.wustl.edu 37 2 179605054 179605054 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179605054 179605054 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12393 p.K4131N 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 55 0 0 60 4 6.25 TTN 0 genome.wustl.edu 37 2 179647069 179647069 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 179647069 179647069 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3250 p.F1084L 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 93 0 0 49 17 25.7576 FAM171B 0 genome.wustl.edu 37 2 187627276 187627276 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 187627276 187627276 T A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.2207 p.L736H 0.999 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 128 0 0 80 6 6.97674 DNAH7 0 genome.wustl.edu 37 2 196774826 196774826 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 196774826 196774826 T G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4029 p.K1343N 0.999 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 49 0 0 57 5 8.06452 RFTN2 0 genome.wustl.edu 37 2 198498574 198498574 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 198498574 198498574 T G SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known missense c.586 p.S196R 0.009 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 136 0 0 133 46 25.6983 ZDBF2 0 genome.wustl.edu 37 2 207175077 207175077 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 207175077 207175077 T G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5825 p.I1942S 0.822 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 121 0 0 105 9 7.89474 ENSG00000235118 0 genome.wustl.edu 37 2 207508994 207508994 + RNA SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 207508994 207508994 C G SNP ENSG00000235118 ENST00000441223 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235118 42 0 0 21 4 16 MAP2 0 genome.wustl.edu 37 2 210558124 210558124 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 210558124 210558124 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.1230 p.E410D 0.991 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 80 0 0 48 12 20 MAP2 0 genome.wustl.edu 37 2 210559603 210559603 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 210559603 210559603 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2709 p.K903N 0.253 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 69 0 0 35 16 31.3725 ACADL 0 genome.wustl.edu 37 2 211081208 211081208 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 211081208 211081208 A C SNP ACADL ENST00000233710 human ensembl 74_37 -1 known silent c.399 p.G133 0.674 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom 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 ACADL HGNC ENSG00000115361 44 0 0 44 13 22.807 CPS1 0 genome.wustl.edu 37 2 211469879 211469879 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 211469879 211469879 A C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1908 p.K636N 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,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 68 0 0 66 15 18.5185 APOB 0 genome.wustl.edu 37 2 21251320 21251320 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 21251320 21251320 A C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1708 p.S570A 0.984 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N 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 173 0 0 68 4 5.55556 APOB 0 genome.wustl.edu 37 2 21252624 21252624 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 21252624 21252624 A C SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1504 p.L502V 0.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N 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 135 0 0 70 12 14.6341 CXCR1 0 genome.wustl.edu 37 2 219028947 219028947 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 219028947 219028947 A C SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.988 p.F330V 0.033 prints_Chemokine_CXCR_1/2,prints_Chemokine_CXCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 149 0 0 62 25 28.7356 PRKAG3 0 genome.wustl.edu 37 2 219692328 219692328 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 219692328 219692328 T C SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known missense c.845 p.K282R 1.000 pfam_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 141 0 0 97 33 25.3846 IHH 0 genome.wustl.edu 37 2 219920314 219920314 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 219920314 219920314 G A SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.851 p.T284M 0.996 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 70 0 0 16 21 56.7568 SLC23A3 0 genome.wustl.edu 37 2 220034257 220034257 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 220034257 220034257 A G SNP SLC23A3 ENST00000455516 human ensembl 74_37 -1 known silent c.306 p.T102 0.986 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 301 0 0 204 17 7.69231 SLC4A3 0 genome.wustl.edu 37 2 220505320 220505320 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 220505320 220505320 A C SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.3527 p.K1176T 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 123 0 0 69 6 8 COL4A4 0 genome.wustl.edu 37 2 227875129 227875129 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 227875129 227875129 C T SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known silent c.4422 p.T1474 0.006 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 93 0 0 39 16 29.0909 AGFG1 0 genome.wustl.edu 37 2 228416701 228416701 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 228416701 228416701 A G SNP AGFG1 ENST00000409979 human ensembl 74_37 +1 known missense c.1477 p.S493G 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC ENSG00000173744 163 0 0 105 13 11.0169 SPHKAP 0 genome.wustl.edu 37 2 228882528 228882528 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 228882528 228882528 T G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3042 p.K1014N 0.999 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 145 0 0 110 11 9.09091 SPHKAP 0 genome.wustl.edu 37 2 228884060 228884060 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 228884060 228884060 C T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1510 p.A504T 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 69 0 0 46 4 8 C2orf44 0 genome.wustl.edu 37 2 24262225 24262225 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 24262225 24262225 T C SNP C2orf44 ENST00000295148 human ensembl 74_37 -1 known missense c.140 p.K47R 0.989 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 105 0 0 43 26 37.6812 DRC1 0 genome.wustl.edu 37 2 26647303 26647303 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 26647303 26647303 T C SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.521 p.L174P 0.993 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 118 1 0.840336 72 4 5.26316 AGBL5 0 genome.wustl.edu 37 2 27278631 27278631 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 27278631 27278631 A G SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.990 p.K330 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 120 0 0 83 5 5.68182 NRBP1 0 genome.wustl.edu 37 2 27663749 27663749 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 27663749 27663749 T C SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known missense c.1271 p.V424A 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_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 128 0 0 91 6 6.18557 C2orf16 0 genome.wustl.edu 37 2 27801181 27801181 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 27801181 27801181 A C SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.1742 p.E581A 0.001 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 73 0 0 38 9 19.1489 C2orf16 0 genome.wustl.edu 37 2 27803126 27803126 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 27803126 27803126 A C SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.3687 p.Q1229H 0.125 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 217 0 0 142 16 10.1266 TMEM178A 0 genome.wustl.edu 37 2 39944178 39944178 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 39944178 39944178 T G SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known silent c.681 p.T227 0.506 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 149 0 0 80 27 25.2336 THADA 0 genome.wustl.edu 37 2 43458445 43458445 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 43458445 43458445 T G SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.5504 p.N1835T 1.000 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 24 0 0 28 7 20 ABCG5 0 genome.wustl.edu 37 2 44065791 44065791 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 44065791 44065791 C T SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known missense c.28 p.G10R 0.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 50 0 0 10 10 50 CAMKMT 0 genome.wustl.edu 37 2 44599904 44599904 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 44599904 44599904 G C SNP CAMKMT ENST00000378494 human ensembl 74_37 +1 known missense c.188 p.R63T 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 48 0 0 41 13 24.0741 SIX2 0 genome.wustl.edu 37 2 45235747 45235747 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 45235747 45235747 A G SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known missense c.503 p.V168A 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 178 0 0 88 5 5.37634 SRBD1 0 genome.wustl.edu 37 2 45789805 45789805 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 45789805 45789805 A C SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.1396 p.C466G 1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 78 0 0 70 6 7.89474 PSME4 0 genome.wustl.edu 37 2 54114530 54114530 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 54114530 54114530 T C SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.4595 p.E1532G 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 71 0 0 67 5 6.94444 TSPYL6 0 genome.wustl.edu 37 2 54482400 54482400 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 54482400 54482400 A C SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.889 p.F297V 0.826 pfam_NAP_family pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 148 0 0 142 8 5.33333 VPS54 0 genome.wustl.edu 37 2 64139522 64139522 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 64139522 64139522 A T SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.2582 p.L861H 1.000 pfam_Vps54 pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 25 0 0 27 6 18.1818 CEP68 0 genome.wustl.edu 37 2 65296690 65296690 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 65296690 65296690 A G SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.112 p.S38G 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 89 0 0 65 8 10.9589 APLF 0 genome.wustl.edu 37 2 68729914 68729914 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 68729914 68729914 C A SNP APLF ENST00000303795 human ensembl 74_37 +1 known missense c.220 p.P74T 1.000 superfamily_SMAD_FHA_domain pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 92 0 0 67 24 26.3736 ASPRV1 0 genome.wustl.edu 37 2 70188132 70188132 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 70188132 70188132 T C SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known missense c.689 p.D230G 0.056 pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 142 0 0 96 7 6.79612 RSAD2 0 genome.wustl.edu 37 2 7023620 7023620 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 7023620 7023620 G A SNP RSAD2 ENST00000382040 human ensembl 74_37 +1 known silent c.465 p.V155 0.995 pfam_rSAM,smart_Elp3/MiaB/NifB pfam_rSAM,smart_Elp3/MiaB/NifB - no_errors RSAD2 HGNC ENSG00000134321 105 0 0 23 9 28.125 DQX1 0 genome.wustl.edu 37 2 74745709 74745709 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 74745709 74745709 G A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.2018 p.P673L 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 62 0 0 26 19 42.2222 DQX1 0 genome.wustl.edu 37 2 74750496 74750496 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 74750496 74750496 A C SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.985 p.F329V 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 442 0 0 263 27 9.31034 KIDINS220 0 genome.wustl.edu 37 2 8930148 8930148 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 8930148 8930148 A G SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.1483 p.F495L 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 203 0 0 87 9 9.375 ITPRIPL1 0 genome.wustl.edu 37 2 96993376 96993376 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 96993376 96993376 A G SNP ITPRIPL1 ENST00000361124 human ensembl 74_37 +1 known missense c.1031 p.K344R 1.000 NULL NULL - no_errors ITPRIPL1 HGNC ENSG00000198885 125 0 0 99 9 8.33333 KANSL3 0 genome.wustl.edu 37 2 97285260 97285260 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 97285260 97285260 G A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.499 p.R167C 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 73 0 0 44 13 22.807 MGAT4A 0 genome.wustl.edu 37 2 99242292 99242292 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 99242292 99242292 A C SNP MGAT4A ENST00000264968 human ensembl 74_37 -1 known missense c.1475 p.F492C 1.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 42 0 0 55 5 8.33333 KIAA1211L 0 genome.wustl.edu 37 2 99413927 99413927 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 99413927 99413927 A G SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.2490 p.T830 0.091 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 184 0 0 99 21 17.5 ISM1 0 genome.wustl.edu 37 20 13279747 13279747 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 13279747 13279747 T G SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1036 p.F346V 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 58 0 0 22 10 31.25 SIRPG 0 genome.wustl.edu 37 20 1629745 1629745 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 1629745 1629745 T C SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.383 p.E128G 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 163 0 0 128 12 8.57143 BFSP1 0 genome.wustl.edu 37 20 17474931 17474931 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 17474931 17474931 C T SNP BFSP1 ENST00000377873 human ensembl 74_37 -1 known missense c.1786 p.D596N 0.001 NULL pfam_IF,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 231 0 0 133 40 23.1214 DEFB119 0 genome.wustl.edu 37 20 29976869 29976869 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 29976869 29976869 T C SNP DEFB119 ENST00000376315 human ensembl 74_37 -1 known missense c.226 p.T76A 0.001 NULL superfamily_Scorpion_toxin-like - no_errors DEFB119 HGNC ENSG00000180483 64 0 0 83 6 6.74157 NCOA6 0 genome.wustl.edu 37 20 33315155 33315155 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 33315155 33315155 C G SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.6056 p.R2019P 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 131 0 0 120 7 5.51181 PHF20 0 genome.wustl.edu 37 20 34505573 34505573 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 34505573 34505573 T G SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.1993 p.F665V 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 40 0 0 31 3 8.82353 CNBD2 0 genome.wustl.edu 37 20 34618299 34618299 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 34618299 34618299 A T SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.1460 p.K487M 0.957 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 184 0 0 136 15 9.93377 RPN2 0 genome.wustl.edu 37 20 35857032 35857032 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 35857032 35857032 A C SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.1379 p.K460T 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 107 0 0 87 9 9.375 SIGLEC1 0 genome.wustl.edu 37 20 3687035 3687035 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 3687035 3687035 T G SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.368 p.N123T 0.824 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 124 0 0 70 11 13.5802 MAVS 0 genome.wustl.edu 37 20 3838286 3838286 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 3838286 3838286 G C SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.122 p.R41P 0.403 NULL NULL - no_errors MAVS HGNC ENSG00000088888 145 0 0 81 13 13.8298 PLCG1 0 genome.wustl.edu 37 20 39793674 39793674 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 39793674 39793674 A G SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1319 p.K440R 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,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_EF_hand_dom,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 - no_errors PLCG1 HGNC ENSG00000124181 54 0 0 46 5 9.80392 CHD6 0 genome.wustl.edu 37 20 40116398 40116398 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 40116398 40116398 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.1908 p.E636 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 79 0 0 76 12 13.6364 PTPRT 0 genome.wustl.edu 37 20 40877418 40877418 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 40877418 40877418 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2278 p.V760M 1.000 NULL 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 71 0 0 45 6 11.7647 ZNF334 0 genome.wustl.edu 37 20 45130560 45130560 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 45130560 45130560 T G SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1418 p.K473T 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 ZNF334 HGNC ENSG00000198185 109 0 0 158 16 9.1954 ZNF334 0 genome.wustl.edu 37 20 45131159 45131159 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 45131159 45131159 A C SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known silent c.819 p.T273 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 ZNF334 HGNC ENSG00000198185 121 0 0 169 13 7.14286 SLC13A3 0 genome.wustl.edu 37 20 45239199 45239199 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 45239199 45239199 T C SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.427 p.S143G 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 200 0 0 147 9 5.76923 NCOA3 0 genome.wustl.edu 37 20 46251013 46251013 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 46251013 46251013 T G SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.22 p.L8V 0.999 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,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 NCOA3 HGNC ENSG00000124151 56 0 0 77 9 10.4651 NCOA3 0 genome.wustl.edu 37 20 46264433 46264433 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 46264433 46264433 T C SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.1480 p.S494P 0.996 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,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 NCOA3 HGNC ENSG00000124151 103 0 0 137 15 9.86842 ARFGEF2 0 genome.wustl.edu 37 20 47604924 47604924 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 47604924 47604924 A G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2360 p.Q787R 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 38 0 0 52 6 10.3448 KCNB1 0 genome.wustl.edu 37 20 47990728 47990728 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 47990728 47990728 T C SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.1369 p.S457G 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 144 0 0 144 10 6.49351 CYP24A1 0 genome.wustl.edu 37 20 52773991 52773991 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 52773991 52773991 A G SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.1370 p.V457A 0.131 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 55 0 0 92 7 7.07071 STX16-NPEPL1 0 genome.wustl.edu 37 20 57246330 57246330 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 57246330 57246330 T G SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.769 p.L257V 0.961 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 138 0 0 126 10 7.35294 SYCP2 0 genome.wustl.edu 37 20 58467402 58467402 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 58467402 58467402 T G SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.2007 p.K669N 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 52 0 0 92 5 5.15464 CHGB 0 genome.wustl.edu 37 20 5903802 5903802 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 5903802 5903802 G A SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.1012 p.E338K 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 123 0 0 100 16 13.7931 TAF4 0 genome.wustl.edu 37 20 60582672 60582672 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 60582672 60582672 T A SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.1905 p.E635D 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 148 0 0 151 12 7.36196 LSM14B 0 genome.wustl.edu 37 20 60706523 60706523 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 60706523 60706523 A C SNP LSM14B ENST00000253001 human ensembl 74_37 +1 known missense c.947 p.K316T 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 68 0 0 33 7 17.5 NPBWR2 0 genome.wustl.edu 37 20 62737206 62737206 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 62737206 62737206 A C SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.979 p.F327V 0.915 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 68 0 0 39 8 17.0213 MYT1 0 genome.wustl.edu 37 20 62853325 62853325 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 62853325 62853325 A C SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2402 p.K801T 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 96 0 0 74 8 9.7561 DEFB125 0 genome.wustl.edu 37 20 76727 76727 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 76727 76727 T G SNP DEFB125 ENST00000382410 human ensembl 74_37 +1 known missense c.140 p.L47R 0.656 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 121 0 0 158 10 5.95238 ANGPT4 0 genome.wustl.edu 37 20 860401 860401 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 20 860401 860401 C T SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.1042 p.D348N 1.000 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 ANGPT4 HGNC ENSG00000101280 96 0 0 53 14 20.8955 CLDN8 0 genome.wustl.edu 37 21 31588128 31588128 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 31588128 31588128 T G SNP CLDN8 ENST00000286809 human ensembl 74_37 -1 known missense c.116 p.N39T 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 138 0 0 98 10 9.25926 SYNJ1 0 genome.wustl.edu 37 21 34003768 34003768 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 34003768 34003768 T G SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.4376 p.K1459T 0.007 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 50 0 0 40 11 21.5686 ITSN1 0 genome.wustl.edu 37 21 35147303 35147303 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 35147303 35147303 T G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.1487 p.L496R 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,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 ITSN1 HGNC ENSG00000205726 73 0 0 58 10 14.7059 ITSN1 0 genome.wustl.edu 37 21 35154338 35154338 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 35154338 35154338 A G SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known silent c.1725 p.K575 1.000 superfamily_P-loop_NTPase pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,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 ITSN1 HGNC ENSG00000205726 57 0 0 55 26 32.0988 TMPRSS2 0 genome.wustl.edu 37 21 42852505 42852505 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 42852505 42852505 A C SNP TMPRSS2 ENST00000398585 human ensembl 74_37 -1 known missense c.581 p.I194S 1.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS2 HGNC ENSG00000184012 64 0 0 38 3 7.31707 TMPRSS3 0 genome.wustl.edu 37 21 43809184 43809184 + RNA SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 43809184 43809184 C G SNP TMPRSS3 ENST00000474596 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TMPRSS3 HGNC ENSG00000160183 38 0 0 16 10 38.4615 TMPRSS3 0 genome.wustl.edu 37 21 43809197 43809197 + RNA SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 43809197 43809197 C T SNP TMPRSS3 ENST00000474596 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors TMPRSS3 HGNC ENSG00000160183 34 0 0 14 8 36.3636 PDE9A 0 genome.wustl.edu 37 21 44185506 44185506 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 44185506 44185506 A C SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.1258 p.I420L 0.994 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 35 0 0 21 6 22.2222 PDE9A 0 genome.wustl.edu 37 21 44189228 44189228 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 44189228 44189228 A C SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.1553 p.K518T 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 73 0 0 26 24 48 PFKL 0 genome.wustl.edu 37 21 45732916 45732916 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 45732916 45732916 A G SNP PFKL ENST00000403390 human ensembl 74_37 +1 known silent c.624 p.L208 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 215 0 0 80 5 5.88235 ADARB1 0 genome.wustl.edu 37 21 46604862 46604862 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 46604862 46604862 G A SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.1541 p.R514H 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 189 1 0.526316 99 43 30.2817 COL18A1 0 genome.wustl.edu 37 21 46910218 46910218 + Silent SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 21 46910218 46910218 G T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.3234 p.G1078 0.698 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 12 0 0 11 3 21.4286 DGCR14 0 genome.wustl.edu 37 22 19121815 19121815 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 19121815 19121815 G A SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.1325 p.P442L 0.998 NULL pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 50 0 0 23 7 23.3333 ZDHHC8 0 genome.wustl.edu 37 22 20128995 20128995 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 20128995 20128995 A G SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.1067 p.K356R 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 45 0 0 37 4 9.7561 PI4KA 0 genome.wustl.edu 37 22 21107256 21107256 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 21107256 21107256 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.2922 p.N974 1.000 superfamily_ARM-type_fold 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 199 1 0.5 224 12 5.08475 BMS1P20 0 genome.wustl.edu 37 22 22663117 22663117 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 22663117 22663117 A C SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors BMS1P20 HGNC ENSG00000236850 26 0 0 29 16 35.5556 RTDR1 0 genome.wustl.edu 37 22 23401893 23401893 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 23401893 23401893 T G SNP RTDR1 ENST00000216036 human ensembl 74_37 -1 known missense c.794 p.K265T 0.999 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 109 0 0 71 14 16.4706 GGT1 0 genome.wustl.edu 37 22 25019864 25019864 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 25019864 25019864 A G SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.1001 p.K334R 0.998 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 44 0 0 30 5 14.2857 MN1 0 genome.wustl.edu 37 22 28195419 28195419 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 28195419 28195419 T G SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.1113 p.Q371H 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 14 0 0 8 3 27.2727 RFPL3 0 genome.wustl.edu 37 22 32756703 32756703 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 32756703 32756703 C T SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.838 p.R280C 0.044 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,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 RFPL3 HGNC ENSG00000128276 120 0 0 111 6 5.12821 RASD2 0 genome.wustl.edu 37 22 35947700 35947700 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 35947700 35947700 A C SNP RASD2 ENST00000216127 human ensembl 74_37 +1 known missense c.422 p.K141T 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 RASD2 HGNC ENSG00000100302 93 0 0 57 5 8.06452 APOL1 0 genome.wustl.edu 37 22 36661318 36661318 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 36661318 36661318 C T SNP APOL1 ENST00000319136 human ensembl 74_37 +1 known missense c.484 p.R162W 0.006 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 133 0 0 114 7 5.78512 TRIOBP 0 genome.wustl.edu 37 22 38119513 38119513 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 38119513 38119513 A T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.950 p.E317V 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 382 0 0 238 18 7.03125 GTPBP1 0 genome.wustl.edu 37 22 39122387 39122387 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 39122387 39122387 A C SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.1343 p.K448T 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 91 0 0 63 4 5.97015 RANGAP1 0 genome.wustl.edu 37 22 41657532 41657532 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 41657532 41657532 T C SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.533 p.K178R 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 126 0 0 85 13 13.2653 ZC3H7B 0 genome.wustl.edu 37 22 41739541 41739541 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 41739541 41739541 A T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.1420 p.T474S 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 61 0 0 29 8 21.6216 FAM109B 0 genome.wustl.edu 37 22 42473316 42473316 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 22 42473316 42473316 A G SNP FAM109B ENST00000321753 human ensembl 74_37 +1 known missense c.19 p.S7G 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 123 0 0 82 15 15.4639 EMC3 0 genome.wustl.edu 37 3 10012268 10012268 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 10012268 10012268 T G SNP EMC3 ENST00000245046 human ensembl 74_37 -1 known missense c.572 p.N191T 1.000 pfam_DUF106_TM,pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC ENSG00000125037 139 0 0 79 22 21.7822 BBX 0 genome.wustl.edu 37 3 107491762 107491762 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 107491762 107491762 A C SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.1194 p.E398D 0.204 NULL pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 87 0 0 59 12 16.9014 TAMM41 0 genome.wustl.edu 37 3 11885576 11885576 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 11885576 11885576 T C SNP TAMM41 ENST00000273037 human ensembl 74_37 -1 known missense c.245 p.K82R 0.003 pfam_Mmp37,pirsf_Mmp37 pfam_Mmp37,pirsf_Mmp37 - no_errors TAMM41 HGNC ENSG00000144559 69 0 0 79 7 8.13953 ARHGAP31 0 genome.wustl.edu 37 3 119134116 119134116 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 119134116 119134116 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.3340 p.P1114S 0.708 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 166 0 0 146 8 5.19481 DTX3L 0 genome.wustl.edu 37 3 122288550 122288550 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 122288550 122288550 T C SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known silent c.1614 p.A538 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 105 0 0 99 11 10 MYLK 0 genome.wustl.edu 37 3 123366187 123366187 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 123366187 123366187 T C SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.4503 p.K1501 0.996 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,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 MYLK HGNC ENSG00000065534 66 0 0 51 12 19.0476 KALRN 0 genome.wustl.edu 37 3 124160832 124160832 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 124160832 124160832 A C SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3233 p.K1078T 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_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 76 0 0 45 18 28.5714 MCM2 0 genome.wustl.edu 37 3 127334796 127334796 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 127334796 127334796 C G SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.1520 p.P507R 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 106 0 0 55 17 23.6111 TMCC1 0 genome.wustl.edu 37 3 129389847 129389847 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 129389847 129389847 T G SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.837 p.Q279H 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 189 0 0 126 20 13.6986 COL6A6 0 genome.wustl.edu 37 3 130287082 130287082 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 130287082 130287082 T G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2035 p.F679V 0.097 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 178 0 0 96 39 28.8889 COL6A6 0 genome.wustl.edu 37 3 130327795 130327795 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 130327795 130327795 T C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.4739 p.L1580P 0.987 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 44 0 0 37 9 19.5652 TF 0 genome.wustl.edu 37 3 133486878 133486878 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 133486878 133486878 T A SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1492 p.F498I 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 86 0 0 60 22 26.8293 TF 0 genome.wustl.edu 37 3 133486889 133486889 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 133486889 133486889 A C SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1503 p.E501D 0.703 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 82 0 0 59 21 26.25 DZIP1L 0 genome.wustl.edu 37 3 137822740 137822740 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 137822740 137822740 T G SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.74 p.K25T 0.996 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 205 0 0 115 34 22.8188 TRIM42 0 genome.wustl.edu 37 3 140406864 140406864 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 140406864 140406864 A C SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.1340 p.K447T 0.950 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 78 0 0 53 7 11.6667 TMEM43 0 genome.wustl.edu 37 3 14172352 14172352 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 14172352 14172352 G C SNP TMEM43 ENST00000306077 human ensembl 74_37 +1 known missense c.193 p.A65P 0.995 NULL pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 168 0 0 53 6 10.1695 TRPC1 0 genome.wustl.edu 37 3 142455271 142455271 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 142455271 142455271 T G SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.223 p.L75V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 77 0 0 56 28 33.3333 FGD5 0 genome.wustl.edu 37 3 14862660 14862660 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 14862660 14862660 A G SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.2082 p.E694 0.000 NULL 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 FGD5 HGNC ENSG00000154783 89 0 0 57 4 6.55738 SIAH2 0 genome.wustl.edu 37 3 150460122 150460122 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 150460122 150460122 A C SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.781 p.F261V 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 107 1 0.925926 62 7 10.1449 HACL1 0 genome.wustl.edu 37 3 15604933 15604933 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 15604933 15604933 G C SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known missense c.1636 p.L546V 0.201 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 71 0 0 43 14 24.5614 WDR49 0 genome.wustl.edu 37 3 167246946 167246946 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 167246946 167246946 A C SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1244 p.F415C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_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 WDR49 HGNC ENSG00000174776 53 0 0 42 18 30 LRRC31 0 genome.wustl.edu 37 3 169557949 169557949 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 169557949 169557949 T G SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known missense c.1480 p.N494H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 95 0 0 99 7 6.60377 TNIK 0 genome.wustl.edu 37 3 170802031 170802031 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 170802031 170802031 T C SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.3082 p.T1028A 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 TNIK HGNC ENSG00000154310 84 0 0 59 32 35.1648 PLD1 0 genome.wustl.edu 37 3 171406503 171406503 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 171406503 171406503 T G SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.1502 p.K501T 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 109 0 0 87 7 7.44681 CCDC39 0 genome.wustl.edu 37 3 180364998 180364998 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 180364998 180364998 A C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1396 p.S466A 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 22 0 0 15 12 44.4444 MASP1 0 genome.wustl.edu 37 3 186953518 186953518 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 186953518 186953518 T C SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.2141 p.Q714R 0.998 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 106 0 0 29 12 29.2683 IL1RAP 0 genome.wustl.edu 37 3 190326835 190326835 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 190326835 190326835 A C SNP IL1RAP ENST00000443369 human ensembl 74_37 +1 known missense c.402 p.K134N 0.989 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 69 0 0 70 25 26.3158 ATP13A5 0 genome.wustl.edu 37 3 193081085 193081085 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 193081085 193081085 T G SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.324 p.E108D 0.000 pfam_ATPase_P-typ_Cation_typ_V,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 64 0 0 72 26 26.5306 SMCO1 0 genome.wustl.edu 37 3 196234867 196234867 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 196234867 196234867 T A SNP SMCO1 ENST00000397537 human ensembl 74_37 -1 known missense c.536 p.Q179L 0.032 NULL NULL - no_errors SMCO1 HGNC ENSG00000214097 71 0 0 49 12 19.6721 SMCO1 0 genome.wustl.edu 37 3 196234879 196234879 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 196234879 196234879 T G SNP SMCO1 ENST00000397537 human ensembl 74_37 -1 known missense c.524 p.N175T 1.000 NULL NULL - no_errors SMCO1 HGNC ENSG00000214097 77 0 0 51 18 26.087 THRB 0 genome.wustl.edu 37 3 24164390 24164390 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 24164390 24164390 T G SNP THRB ENST00000356447 human ensembl 74_37 -1 known missense c.1371 p.E457D 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 150 0 0 80 14 14.8936 THRB 0 genome.wustl.edu 37 3 24206722 24206722 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 24206722 24206722 G C SNP THRB ENST00000280696 human ensembl 74_37 -1 putative missense c.124 p.Q42E 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 65 0 0 55 6 9.83607 TRIM71 0 genome.wustl.edu 37 3 32860324 32860324 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 32860324 32860324 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.752 p.A251V 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 64 0 0 41 12 22.6415 ACVR2B 0 genome.wustl.edu 37 3 38519713 38519713 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 38519713 38519713 T C SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.452 p.L151P 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2B HGNC ENSG00000114739 64 0 0 54 4 6.89655 TTC21A 0 genome.wustl.edu 37 3 39175826 39175826 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 39175826 39175826 A C SNP TTC21A ENST00000481734 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors TTC21A HGNC ENSG00000168026 176 0 0 116 25 17.7305 CTNNB1 0 genome.wustl.edu 37 3 41278119 41278119 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 41278119 41278119 C A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1995 p.D665E 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 165 1 0.60241 112 39 25.8278 HHATL 0 genome.wustl.edu 37 3 42742227 42742227 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 42742227 42742227 A G SNP HHATL ENST00000310417 human ensembl 74_37 -1 known missense c.92 p.L31P 0.661 NULL pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 50 0 0 25 6 19.3548 CCR1 0 genome.wustl.edu 37 3 46245656 46245656 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 46245656 46245656 A G SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.149 p.V50A 0.156 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn 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 73 0 0 39 10 20.4082 KIF9-AS1 0 genome.wustl.edu 37 3 47281411 47281411 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 47281411 47281411 A C SNP KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 57 0 0 23 7 23.3333 DHX30 0 genome.wustl.edu 37 3 47868925 47868925 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 47868925 47868925 A C SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.213 p.K71N 1.000 NULL 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 107 0 0 73 8 9.87654 MAP4 0 genome.wustl.edu 37 3 47957952 47957952 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 47957952 47957952 T G SNP MAP4 ENST00000360240 human ensembl 74_37 -1 known missense c.1365 p.E455D 0.559 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 113 0 0 64 28 30.4348 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 151 1 0.657895 59 26 30.5882 APEH 0 genome.wustl.edu 37 3 49719161 49719161 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 49719161 49719161 T C SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.1445 p.L482P 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 51 0 0 32 4 11.1111 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 242 0 0 86 44 33.8462 MAPKAPK3 0 genome.wustl.edu 37 3 50679760 50679760 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 50679760 50679760 C T SNP MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known silent c.501 p.V167 1.000 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 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 MAPKAPK3 HGNC ENSG00000114738 67 0 0 26 14 35 DNAH1 0 genome.wustl.edu 37 3 52406378 52406378 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 52406378 52406378 T G SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.6802 p.F2268V 0.754 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 82 0 0 33 8 19.5122 PXK 0 genome.wustl.edu 37 3 58381485 58381485 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 58381485 58381485 A C SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.821 p.E274A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 66 0 0 41 5 10.8696 FAM107A 0 genome.wustl.edu 37 3 58555474 58555474 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 58555474 58555474 C T SNP FAM107A ENST00000360997 human ensembl 74_37 -1 known silent c.114 p.V38 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107A HGNC ENSG00000168309 148 0 0 91 7 7.14286 CNTN3 0 genome.wustl.edu 37 3 74383939 74383939 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 74383939 74383939 C A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1615 p.G539W 0.989 pfam_Ig_I-set,pfam_Ig_V-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 CNTN3 HGNC ENSG00000113805 108 1 0.917431 85 7 7.6087 CNTN3 0 genome.wustl.edu 37 3 74385746 74385746 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 74385746 74385746 A C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1428 p.T476 0.046 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-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 CNTN3 HGNC ENSG00000113805 63 0 0 44 5 10.2041 ROBO1 0 genome.wustl.edu 37 3 78988071 78988071 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 78988071 78988071 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.179 p.R60L 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 ROBO1 HGNC ENSG00000169855 98 0 0 37 10 21.2766 OR5H15 0 genome.wustl.edu 37 3 97887578 97887578 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 97887578 97887578 T G SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.35 p.F12C 0.870 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 120 0 0 159 14 8.09249 C4orf17 0 genome.wustl.edu 37 4 100463127 100463127 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 100463127 100463127 A G SNP C4orf17 ENST00000326581 human ensembl 74_37 +1 known missense c.941 p.E314G 0.996 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 64 0 0 44 11 20 SLC9B1 0 genome.wustl.edu 37 4 103853399 103853399 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 103853399 103853399 T C SNP SLC9B1 ENST00000514972 human ensembl 74_37 -1 known missense c.583 p.R195G 0.919 NULL NULL - no_errors SLC9B1 HGNC ENSG00000164037 64 0 0 79 23 22.549 CENPE 0 genome.wustl.edu 37 4 104080416 104080416 + Silent SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 104080416 104080416 T A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.2352 p.V784 0.000 NULL 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 27 0 0 24 8 25 CLNK 0 genome.wustl.edu 37 4 10503023 10503023 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 10503023 10503023 A T SNP CLNK ENST00000226951 human ensembl 74_37 -1 known missense c.997 p.L333M 0.997 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 42 0 0 40 15 27.2727 NPNT 0 genome.wustl.edu 37 4 106861764 106861764 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 106861764 106861764 G A SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.734 p.G245E 0.996 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 108 0 0 87 22 20.1835 SYNPO2 0 genome.wustl.edu 37 4 119951710 119951710 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 119951710 119951710 G A SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.1780 p.G594R 0.522 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 192 0 0 88 29 24.7863 PCDH18 0 genome.wustl.edu 37 4 138452673 138452673 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 138452673 138452673 A T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.570 p.T190 0.000 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 77 0 0 24 37 60.6557 GYPE 0 genome.wustl.edu 37 4 144801595 144801595 + Silent SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 144801595 144801595 G T SNP GYPE ENST00000358615 human ensembl 74_37 -1 known silent c.105 p.V35 0.000 NULL NULL - no_errors GYPE HGNC ENSG00000197465 133 0 0 103 25 19.5312 TIGD4 0 genome.wustl.edu 37 4 153690741 153690741 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 153690741 153690741 T G SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.1416 p.K472N 0.846 pfam_Centromere_CenpB_dimerisation pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 55 0 0 38 12 24 C1QTNF7 0 genome.wustl.edu 37 4 15443895 15443895 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 15443895 15443895 A C SNP C1QTNF7 ENST00000429690 human ensembl 74_37 +1 known missense c.342 p.E114D 0.880 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 192 0 0 160 21 11.6022 KIAA0922 0 genome.wustl.edu 37 4 154505988 154505988 + Splice_Site SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 154505988 154505988 A T SNP KIAA0922 ENST00000409663 human ensembl 74_37 +1 known splice_site c.1061-2 e12-2 1.000 - - - no_errors KIAA0922 HGNC ENSG00000121210 45 0 0 42 10 19.2308 RBM46 0 genome.wustl.edu 37 4 155719202 155719202 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 155719202 155719202 T G SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.391 p.F131V 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 66 0 0 46 17 26.9841 FNIP2 0 genome.wustl.edu 37 4 159790415 159790415 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 159790415 159790415 A C SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.2696 p.N899T 0.001 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 61 0 0 34 3 8.10811 TRIM61 0 genome.wustl.edu 37 4 165890685 165890685 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 165890685 165890685 A C SNP TRIM61 ENST00000329314 human ensembl 74_37 -1 known missense c.470 p.L157R 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 52 0 0 50 16 24.2424 TRIM61 0 genome.wustl.edu 37 4 165890990 165890990 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 165890990 165890990 A C SNP TRIM61 ENST00000329314 human ensembl 74_37 -1 known missense c.165 p.F55L 0.130 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 91 0 0 71 10 12.3457 CLCN3 0 genome.wustl.edu 37 4 170628052 170628052 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 170628052 170628052 T G SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.1784 p.V595G 1.000 pfam_Cl-channel_volt-gated,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-3 - no_errors CLCN3 HGNC ENSG00000109572 95 0 0 70 15 17.6471 MFAP3L 0 genome.wustl.edu 37 4 170912682 170912682 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 170912682 170912682 A C SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known silent c.1077 p.P359 0.989 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 119 0 0 97 27 21.7742 NEIL3 0 genome.wustl.edu 37 4 178274525 178274525 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 178274525 178274525 A G SNP NEIL3 ENST00000264596 human ensembl 74_37 +1 known missense c.1103 p.N368S 0.994 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 84 0 0 65 15 18.75 WWC2 0 genome.wustl.edu 37 4 184166637 184166637 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 184166637 184166637 A C SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.671 p.E224A 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 43 0 0 38 3 7.31707 CYP4V2 0 genome.wustl.edu 37 4 187117203 187117203 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 187117203 187117203 A T SNP CYP4V2 ENST00000378802 human ensembl 74_37 +1 known missense c.374 p.K125M 0.985 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4V2 HGNC ENSG00000145476 33 0 0 28 7 20 SLC34A2 0 genome.wustl.edu 37 4 25674816 25674816 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 25674816 25674816 A T SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1156 p.I386F 0.614 pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 102 0 0 118 9 7.08661 NOP14 0 genome.wustl.edu 37 4 2964964 2964964 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 2964964 2964964 T G SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.83 p.N28T 0.007 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 118 0 0 60 11 15.493 TBC1D1 0 genome.wustl.edu 37 4 38138919 38138919 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 38138919 38138919 A T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.3470 p.E1157V 0.000 NULL 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 70 0 0 80 8 9.09091 NSUN7 0 genome.wustl.edu 37 4 40762498 40762498 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 40762498 40762498 A C SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known missense c.346 p.S116R 1.000 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 58 0 0 52 11 17.4603 RASL11B 0 genome.wustl.edu 37 4 53731608 53731608 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 53731608 53731608 T A SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known missense c.383 p.L128H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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_Fe2_transport_prot_B_N,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 RASL11B HGNC ENSG00000128045 135 0 0 78 21 21.2121 HOPX 0 genome.wustl.edu 37 4 57522115 57522115 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 57522115 57522115 C T SNP HOPX ENST00000554144 human ensembl 74_37 -1 known missense c.106 p.E36K 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors HOPX HGNC ENSG00000171476 25 0 0 16 3 15.7895 CRMP1 0 genome.wustl.edu 37 4 5853180 5853180 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 5853180 5853180 T C SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known silent c.837 p.Q279 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 257 0 0 224 17 7.05394 G3BP2 0 genome.wustl.edu 37 4 76571575 76571575 + Missense_Mutation SNP C C G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 76571575 76571575 C G SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known missense c.1123 p.G375R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 200 0 0 194 14 6.73077 CCDC158 0 genome.wustl.edu 37 4 77292583 77292583 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 77292583 77292583 A C SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.1136 p.L379R 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 32 0 0 35 18 33.9623 SEPT11 0 genome.wustl.edu 37 4 77941688 77941688 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 77941688 77941688 T C SNP SEPT11 ENST00000541121 human ensembl 74_37 +1 known missense c.848 p.L283P 0.997 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT11 HGNC ENSG00000138758 87 0 0 108 10 8.47458 AFAP1 0 genome.wustl.edu 37 4 7802299 7802299 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 7802299 7802299 T C SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1136 p.D379G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 92 0 0 41 12 22.6415 FRAS1 0 genome.wustl.edu 37 4 79394700 79394700 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 79394700 79394700 G C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.7631 p.S2544T 0.351 smart_Calx_beta 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 94 0 0 137 11 7.43243 FRAS1 0 genome.wustl.edu 37 4 79437061 79437061 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 79437061 79437061 T C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.10283 p.L3428P 1.000 NULL 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 88 0 0 56 5 8.19672 BMP3 0 genome.wustl.edu 37 4 81967099 81967099 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 4 81967099 81967099 A C SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.524 p.N175T 1.000 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 205 0 0 117 49 29.5181 MARCH6 0 genome.wustl.edu 37 5 10397414 10397414 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 10397414 10397414 T G SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.871 p.F291V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 81 0 0 56 11 16.4179 CTNND2 0 genome.wustl.edu 37 5 11117639 11117639 + Nonsense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 11117639 11117639 T A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known nonsense c.2200 p.R734* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 133 0 0 96 20 17.2414 SLC12A2 0 genome.wustl.edu 37 5 127448545 127448545 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 127448545 127448545 A G SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.796 p.T266A 1.000 pfam_AA_permease_N,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 71 0 0 62 21 25.3012 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 143 1 0.694444 50 29 36.7089 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 145 1 0.684932 47 40 45.977 KDM3B 0 genome.wustl.edu 37 5 137762680 137762680 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 137762680 137762680 A C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.4428 p.E1476D 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 103 0 0 32 12 27.2727 PCDHA10 0 genome.wustl.edu 37 5 140236835 140236835 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 140236835 140236835 A C SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1202 p.K401T 0.991 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 PCDHA10 HGNC ENSG00000250120 315 0 0 110 48 30.3797 PCDHA10 0 genome.wustl.edu 37 5 140237019 140237019 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 140237019 140237019 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1386 p.F462 0.453 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 298 0 0 95 35 26.9231 PCDHA11 0 genome.wustl.edu 37 5 140248808 140248808 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 140248808 140248808 A C SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.120 p.K40N 0.001 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 202 1 0.492611 92 40 30.303 PCDHB16 0 genome.wustl.edu 37 5 140563353 140563353 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 140563353 140563353 A G SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1219 p.R407G 0.000 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 100 0 0 46 7 13.2075 PCDHGB4 0 genome.wustl.edu 37 5 140768378 140768378 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 140768378 140768378 A C SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.927 p.E309D 0.054 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 PCDHGB4 HGNC ENSG00000253953 85 0 0 23 13 36.1111 CSF1R 0 genome.wustl.edu 37 5 149457791 149457791 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 149457791 149457791 A C SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.613 p.L205V 0.001 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 100 0 0 32 6 15.7895 FAT2 0 genome.wustl.edu 37 5 150948213 150948213 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 150948213 150948213 A C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.280 p.F94V 1.000 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 361 0 0 177 76 30.0395 KIF4B 0 genome.wustl.edu 37 5 154394999 154394999 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 154394999 154394999 T C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.1580 p.V527A 0.987 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 97 0 0 58 7 10.7692 CYFIP2 0 genome.wustl.edu 37 5 156752563 156752563 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 156752563 156752563 A T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.1974 p.R658 0.995 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 40 0 0 19 10 34.4828 DOCK2 0 genome.wustl.edu 37 5 169141079 169141079 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 169141079 169141079 T G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.1707 p.P569 1.000 NULL 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 121 0 0 32 17 34.6939 KCNMB1 0 genome.wustl.edu 37 5 169810813 169810813 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 169810813 169810813 T G SNP KCNMB1 ENST00000274629 human ensembl 74_37 -1 known missense c.176 p.N59T 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 58 0 0 15 8 34.7826 UBTD2 0 genome.wustl.edu 37 5 171638907 171638907 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 171638907 171638907 T A SNP UBTD2 ENST00000393792 human ensembl 74_37 -1 known missense c.632 p.K211M 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 99 0 0 44 21 32.3077 ZNF354C 0 genome.wustl.edu 37 5 178505885 178505885 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 178505885 178505885 A T SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.452 p.E151V 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 ZNF354C HGNC ENSG00000177932 90 0 0 44 17 27.8689 PRLR 0 genome.wustl.edu 37 5 35066132 35066132 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 35066132 35066132 A G SNP PRLR ENST00000382002 human ensembl 74_37 -1 known silent c.928 p.L310 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 62 0 0 57 23 28.75 IL7R 0 genome.wustl.edu 37 5 35876392 35876392 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 35876392 35876392 A C SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.1184 p.K395T 0.001 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 75 0 0 50 13 20.6349 C5orf42 0 genome.wustl.edu 37 5 37173971 37173971 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 37173971 37173971 T G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.6057 p.Q2019H 0.001 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 67 0 0 87 16 15.534 ADAMTS16 0 genome.wustl.edu 37 5 5146481 5146481 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 5146481 5146481 T G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.414 p.T138 0.000 pfam_Peptidase_M12B_N 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 211 0 0 182 11 5.69948 DIMT1 0 genome.wustl.edu 37 5 61699168 61699168 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 61699168 61699168 T C SNP DIMT1 ENST00000199320 human ensembl 74_37 -1 known missense c.85 p.M29V 0.998 NULL pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 62 0 0 42 3 6.66667 NSUN2 0 genome.wustl.edu 37 5 6611109 6611109 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 6611109 6611109 C T SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known silent c.1185 p.P395 0.155 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 107 0 0 57 5 8.06452 RAD17 0 genome.wustl.edu 37 5 68692326 68692326 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 68692326 68692326 A C SNP RAD17 ENST00000380774 human ensembl 74_37 +1 known missense c.1558 p.S520R 0.995 tigrfam_Checkpoint_prot_Rad24_fun/met superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met - no_errors RAD17 HGNC ENSG00000152942 25 0 0 23 11 32.3529 MAP1B 0 genome.wustl.edu 37 5 71494245 71494245 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 71494245 71494245 A C SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.5063 p.D1688A 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 80 0 0 48 7 12.7273 IQGAP2 0 genome.wustl.edu 37 5 75757491 75757491 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 75757491 75757491 A G SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.143 p.K48R 1.000 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,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_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 41 0 0 18 6 25 WDR41 0 genome.wustl.edu 37 5 76732183 76732183 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 76732183 76732183 T G SNP WDR41 ENST00000296679 human ensembl 74_37 -1 known missense c.1130 p.K377T 1.000 superfamily_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 WDR41 HGNC ENSG00000164253 54 0 0 59 6 9.23077 SSBP2 0 genome.wustl.edu 37 5 80738511 80738511 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 80738511 80738511 A C SNP SSBP2 ENST00000320672 human ensembl 74_37 -1 known silent c.810 p.T270 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 52 0 0 14 8 36.3636 GPR98 0 genome.wustl.edu 37 5 89948273 89948273 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 89948273 89948273 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3527 p.V1176A 0.646 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 84 0 0 41 15 26.7857 GPR98 0 genome.wustl.edu 37 5 89986632 89986632 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 89986632 89986632 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.6725 p.L2242R 0.999 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 11 0 0 5 6 54.5455 FAM172A 0 genome.wustl.edu 37 5 93300165 93300165 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 93300165 93300165 G A SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.373 p.P125S 1.000 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 9 0 0 8 3 27.2727 LNPEP 0 genome.wustl.edu 37 5 96364142 96364142 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 5 96364142 96364142 T G SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.2983 p.F995V 0.992 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 109 0 0 81 6 6.89655 LIN28B 0 genome.wustl.edu 37 6 105526475 105526475 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 105526475 105526475 T C SNP LIN28B ENST00000345080 human ensembl 74_37 +1 known silent c.570 p.T190 0.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28B HGNC ENSG00000187772 93 0 0 55 8 12.6984 POPDC3 0 genome.wustl.edu 37 6 105609491 105609491 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 105609491 105609491 T G SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.294 p.Q98H 1.000 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 307 0 0 197 56 22.1344 DDO 0 genome.wustl.edu 37 6 110734556 110734556 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 110734556 110734556 T G SNP DDO ENST00000368924 human ensembl 74_37 -1 known missense c.194 p.K65T 0.278 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 230 0 0 124 13 9.48905 LAMA4 0 genome.wustl.edu 37 6 112460474 112460474 + Missense_Mutation SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 112460474 112460474 G T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.3130 p.Q1044K 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 158 0 0 72 20 21.7391 RFX6 0 genome.wustl.edu 37 6 117232144 117232144 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 117232144 117232144 T G SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.719 p.L240R 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 73 0 0 73 18 19.7802 RFX6 0 genome.wustl.edu 37 6 117240445 117240445 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 117240445 117240445 T G SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.1168 p.L390V 0.998 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 68 0 0 57 18 24 LAMA2 0 genome.wustl.edu 37 6 129748963 129748963 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 129748963 129748963 C A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.5932 p.L1978I 1.000 NULL 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 106 0 0 58 21 26.5823 MED23 0 genome.wustl.edu 37 6 131917611 131917611 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 131917611 131917611 A C SNP MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MED23 HGNC ENSG00000112282 41 0 0 37 8 17.7778 ENPP3 0 genome.wustl.edu 37 6 132047242 132047242 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 132047242 132047242 A G SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.1855 p.N619D 0.730 NULL 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 98 0 0 84 24 22.2222 TAAR5 0 genome.wustl.edu 37 6 132910580 132910580 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 132910580 132910580 A G SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known silent c.246 p.F82 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 201 0 0 169 10 5.58659 VNN1 0 genome.wustl.edu 37 6 133015209 133015209 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 133015209 133015209 A C SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known missense c.454 p.C152G 0.995 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 98 0 0 174 13 6.95187 HBS1L 0 genome.wustl.edu 37 6 135287535 135287535 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 135287535 135287535 A C SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known missense c.1975 p.F659V 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 93 0 0 109 14 11.3821 PEX7 0 genome.wustl.edu 37 6 137187842 137187842 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 137187842 137187842 T G SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known missense c.604 p.L202V 0.997 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 PEX7 HGNC ENSG00000112357 53 0 0 32 11 25.5814 KIAA1244 0 genome.wustl.edu 37 6 138576856 138576856 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 138576856 138576856 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.1054 p.L352F 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 37 0 0 9 3 25 GINM1 0 genome.wustl.edu 37 6 149901803 149901803 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 149901803 149901803 T G SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known missense c.661 p.L221V 0.088 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 83 0 0 93 31 25 SYNE1 0 genome.wustl.edu 37 6 152719782 152719782 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 152719782 152719782 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.7322 p.V2441G 0.931 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 80 0 0 64 14 17.9487 SYNJ2 0 genome.wustl.edu 37 6 158515004 158515004 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 158515004 158515004 A G SNP SYNJ2 ENST00000367121 human ensembl 74_37 +1 known missense c.3829 p.R1277G 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 168 1 0.591716 168 10 5.61798 EZR 0 genome.wustl.edu 37 6 159205739 159205739 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 159205739 159205739 A C SNP EZR ENST00000337147 human ensembl 74_37 -1 known missense c.488 p.L163R 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain 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,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 74 0 0 64 8 11.1111 LPA 0 genome.wustl.edu 37 6 161007491 161007491 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 161007491 161007491 A C SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.4119 p.P1373 0.003 NULL 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 103 0 0 115 19 14.1791 SMOC2 0 genome.wustl.edu 37 6 168999540 168999540 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 168999540 168999540 C T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.713 p.A238V 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_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 150 0 0 133 13 8.90411 SMOC2 0 genome.wustl.edu 37 6 168999604 168999604 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 168999604 168999604 A G SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.777 p.P259 0.145 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_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 74 0 0 69 6 8 KIAA0319 0 genome.wustl.edu 37 6 24596784 24596784 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 24596784 24596784 A C SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.118 p.L40V 0.258 smart_MANSC_N,pfscan_MANSC pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 94 0 0 42 10 19.2308 OR14J1 0 genome.wustl.edu 37 6 29274471 29274471 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 29274471 29274471 T G SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.5 p.V2G 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 135 0 0 68 38 35.8491 OR2H2 0 genome.wustl.edu 37 6 29555920 29555920 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 29555920 29555920 T G SNP OR2H2 ENST00000383640 human ensembl 74_37 +1 known missense c.199 p.L67V 0.914 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC ENSG00000204657 119 0 0 47 19 28.7879 GABBR1 0 genome.wustl.edu 37 6 29581264 29581264 + Splice_Site SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 29581264 29581264 T A SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known splice_site c.1324-2 e11-2 1.000 - - - no_errors GABBR1 HGNC ENSG00000204681 115 0 0 82 7 7.86517 RNF39 0 genome.wustl.edu 37 6 30039131 30039131 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 30039131 30039131 G A SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known silent c.1020 p.R340 0.996 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 RNF39 HGNC ENSG00000204618 22 0 0 6 4 40 PRR3 0 genome.wustl.edu 37 6 30529893 30529893 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 30529893 30529893 T C SNP PRR3 ENST00000376560 human ensembl 74_37 +1 known missense c.452 p.V151A 0.895 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC ENSG00000204576 135 1 0.735294 47 8 14.5455 ABCF1 0 genome.wustl.edu 37 6 30545225 30545225 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 30545225 30545225 A C SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.113 p.K38T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 40 0 0 12 5 29.4118 DHX16 0 genome.wustl.edu 37 6 30627593 30627593 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 30627593 30627593 A G SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known silent c.1774 p.L592 1.000 superfamily_P-loop_NTPase pfam_DUF1605,pfam_Helicase-assoc_dom,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 DHX16 HGNC ENSG00000204560 87 0 0 39 3 7.14286 VARS 0 genome.wustl.edu 37 6 31747777 31747777 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 31747777 31747777 A G SNP VARS ENST00000375663 human ensembl 74_37 -1 known silent c.3079 p.L1027 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 71 0 0 50 17 25.3731 HSPA1L 0 genome.wustl.edu 37 6 31779492 31779492 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 31779492 31779492 T C SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.258 p.Q86 0.765 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 153 0 0 198 13 6.16114 GPSM3 0 genome.wustl.edu 37 6 32159496 32159496 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 32159496 32159496 A T SNP GPSM3 ENST00000375040 human ensembl 74_37 -1 known missense c.335 p.L112H 1.000 pfam_GoLoco_motif,smart_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 102 0 0 43 5 10.4167 ITPR3 0 genome.wustl.edu 37 6 33662849 33662849 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 33662849 33662849 A G SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7934 p.E2645G 1.000 NULL 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 ITPR3 HGNC ENSG00000096433 49 0 0 23 5 17.8571 GRM4 0 genome.wustl.edu 37 6 34059816 34059816 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 34059816 34059816 A C SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.580 p.F194V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 111 0 0 43 6 12.2449 TAF11 0 genome.wustl.edu 37 6 34846436 34846436 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 34846436 34846436 T G SNP TAF11 ENST00000361288 human ensembl 74_37 -1 known missense c.567 p.E189D 1.000 pfam_TAFII28,superfamily_Histone-fold pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC ENSG00000064995 57 0 0 55 4 6.77966 GLTSCR1L 0 genome.wustl.edu 37 6 42823647 42823647 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 42823647 42823647 A C SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.2100 p.K700N 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 198 0 0 101 10 9.00901 CUL9 0 genome.wustl.edu 37 6 43163991 43163991 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 43163991 43163991 T C SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2573 p.L858P 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 82 0 0 54 5 8.47458 POLR1C 0 genome.wustl.edu 37 6 43488378 43488378 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 43488378 43488378 A C SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known missense c.671 p.K224T 1.000 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 150 0 0 94 10 9.61538 CDC5L 0 genome.wustl.edu 37 6 44392215 44392215 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 44392215 44392215 T C SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known silent c.1464 p.N488 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 64 0 0 24 32 57.1429 CYP39A1 0 genome.wustl.edu 37 6 46563772 46563772 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 46563772 46563772 T G SNP CYP39A1 ENST00000275016 human ensembl 74_37 -1 known missense c.1017 p.K339N 0.363 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 65 0 0 81 15 15.625 PGK2 0 genome.wustl.edu 37 6 49754349 49754349 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 49754349 49754349 T G SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known missense c.552 p.K184N 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 95 0 0 91 8 8.08081 DEFB112 0 genome.wustl.edu 37 6 50011385 50011385 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 50011385 50011385 C A SNP DEFB112 ENST00000322246 human ensembl 74_37 -1 known missense c.245 p.C82F 0.338 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 51 0 0 47 20 29.8507 GSTA1 0 genome.wustl.edu 37 6 52657694 52657694 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 52657694 52657694 T C SNP GSTA1 ENST00000334575 human ensembl 74_37 -1 known missense c.506 p.E169G 0.931 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 GSTA1 HGNC ENSG00000243955 198 0 0 119 7 5.55556 EXOC2 0 genome.wustl.edu 37 6 564622 564622 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 564622 564622 T G SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.1590 p.E530D 0.001 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 168 0 0 93 9 8.82353 BAI3 0 genome.wustl.edu 37 6 69640552 69640552 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 69640552 69640552 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.859 p.A287T 1.000 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_CUB_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 BAI3 HGNC ENSG00000135298 40 0 0 24 14 36.8421 LCA5 0 genome.wustl.edu 37 6 80196883 80196883 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 80196883 80196883 T G SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known missense c.1932 p.K644N 0.993 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 140 0 0 102 48 32 MUC17 0 genome.wustl.edu 37 7 100681013 100681013 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 100681013 100681013 A C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6316 p.S2106R 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 420 0 0 229 25 9.84252 MUC17 0 genome.wustl.edu 37 7 100684288 100684288 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 100684288 100684288 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.9591 p.T3197 0.036 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 579 0 0 320 31 8.83191 CDHR3 0 genome.wustl.edu 37 7 105615425 105615425 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 105615425 105615425 A G SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.182 p.Q61R 0.004 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 158 0 0 120 7 5.51181 IMMP2L 0 genome.wustl.edu 37 7 111161449 111161449 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 111161449 111161449 A G SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.55 p.F19L 1.000 tigrfam_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 143 0 0 70 44 38.5965 PPP1R3A 0 genome.wustl.edu 37 7 113559001 113559001 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 113559001 113559001 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.51 p.E17D 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 62 0 0 57 9 13.6364 WNT2 0 genome.wustl.edu 37 7 116955197 116955197 + Silent SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 116955197 116955197 C A SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known silent c.516 p.V172 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 132 0 0 80 12 13.0435 CPED1 0 genome.wustl.edu 37 7 120770304 120770304 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 120770304 120770304 A G SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.1533 p.Q511 0.993 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 53 0 0 63 5 7.35294 PTPRZ1 0 genome.wustl.edu 37 7 121650657 121650657 + Silent SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 121650657 121650657 T A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.1557 p.T519 0.322 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 77 0 0 34 15 30.6122 LRGUK 0 genome.wustl.edu 37 7 133884171 133884171 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 133884171 133884171 C T SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.1745 p.A582V 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 87 0 0 39 14 26.4151 KIAA1549 0 genome.wustl.edu 37 7 138602902 138602902 + Silent SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 138602902 138602902 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.1470 p.I490 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 44 0 0 23 4 14.8148 KIAA1549 0 genome.wustl.edu 37 7 138603717 138603717 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 138603717 138603717 G C SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.655 p.P219A 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 214 0 0 83 6 6.74157 ADCK2 0 genome.wustl.edu 37 7 140378991 140378991 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 140378991 140378991 T G SNP ADCK2 ENST00000072869 human ensembl 74_37 +1 known missense c.1117 p.F373V 1.000 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 119 0 0 45 18 28.5714 BRAF 0 genome.wustl.edu 37 7 140494168 140494168 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 140494168 140494168 T C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known silent c.1080 p.R360 0.999 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 82 0 0 68 11 13.9241 OR9A2 0 genome.wustl.edu 37 7 142723730 142723730 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 142723730 142723730 A C SNP OR9A2 ENST00000350513 human ensembl 74_37 -1 known missense c.490 p.F164V 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 118 0 0 63 5 7.35294 CUL1 0 genome.wustl.edu 37 7 148484124 148484124 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 148484124 148484124 A C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1391 p.K464T 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 CUL1 HGNC ENSG00000055130 155 0 0 77 9 10.4651 SLC4A2 0 genome.wustl.edu 37 7 150761422 150761422 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 150761422 150761422 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.185 p.P62L 0.997 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 46 0 0 15 9 37.5 DNAH11 0 genome.wustl.edu 37 7 21628926 21628926 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 21628926 21628926 A C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.2074 p.S692R 0.980 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 DNAH11 HGNC ENSG00000105877 61 0 0 34 17 33.3333 TRA2A 0 genome.wustl.edu 37 7 23545857 23545857 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 23545857 23545857 C T SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known missense c.670 p.G224S 0.967 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 51 0 0 74 14 15.9091 PDE1C 0 genome.wustl.edu 37 7 31912981 31912981 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 31912981 31912981 T A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.533 p.E178V 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 54 0 0 45 10 18.1818 TBX20 0 genome.wustl.edu 37 7 35289646 35289646 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 35289646 35289646 T G SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.297 p.K99N 1.000 superfamily_p53-like_TF_DNA-bd,smart_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 TBX20 HGNC ENSG00000164532 68 0 0 46 9 16.3636 ELMO1 0 genome.wustl.edu 37 7 36917661 36917661 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 36917661 36917661 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.1776 p.E592 0.996 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 31 0 0 48 5 9.43396 NME8 0 genome.wustl.edu 37 7 37889886 37889886 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 37889886 37889886 A G SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.18 p.R6 0.999 superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 175 0 0 221 18 7.53138 CDK13 0 genome.wustl.edu 37 7 40134436 40134436 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 40134436 40134436 T G SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.4396 p.L1466V 0.993 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 CDK13 HGNC ENSG00000065883 77 0 0 91 7 7.14286 HECW1 0 genome.wustl.edu 37 7 43546793 43546793 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 43546793 43546793 A C SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.3689 p.K1230T 1.000 superfamily_HECT 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 HECW1 HGNC ENSG00000002746 129 0 0 45 20 30.7692 PKD1L1 0 genome.wustl.edu 37 7 47852835 47852835 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 47852835 47852835 T G SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.7230 p.E2410D 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 91 0 0 62 11 15.0685 LANCL2 0 genome.wustl.edu 37 7 55498929 55498929 + Silent SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 55498929 55498929 C T SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known silent c.1269 p.G423 0.001 pfam_LANC-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 51 0 0 40 12 23.0769 PMS2 0 genome.wustl.edu 37 7 6026456 6026456 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 6026456 6026456 T G SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.1940 p.K647T 0.997 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 82 0 0 76 21 21.6495 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658412 72658412 + RNA SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 72658412 72658412 A C SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 70 0 0 65 8 10.9589 POMZP3 0 genome.wustl.edu 37 7 76241096 76241096 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 76241096 76241096 G A SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known missense c.380 p.A127V 0.818 pfam_ZP_dom pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 45 0 0 41 5 10.8696 PTPN12 0 genome.wustl.edu 37 7 77221537 77221537 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 77221537 77221537 A G SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known silent c.456 p.E152 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 48 0 0 69 6 8 PHTF2 0 genome.wustl.edu 37 7 77569864 77569864 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 77569864 77569864 T G SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known missense c.1760 p.L587R 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 48 0 0 35 6 14.6341 PCLO 0 genome.wustl.edu 37 7 82764843 82764843 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 82764843 82764843 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.2023 p.S675A 0.956 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 60 0 0 25 7 21.875 ZSCAN21 0 genome.wustl.edu 37 7 99654558 99654558 + RNA SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 99654558 99654558 T C SNP ZSCAN21 ENST00000477297 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZSCAN21 HGNC ENSG00000166529 253 0 0 122 14 10.2941 ZCWPW1 0 genome.wustl.edu 37 7 99999537 99999537 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 7 99999537 99999537 T C SNP ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known silent c.1599 p.Q533 0.000 NULL pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 151 0 0 62 19 23.4568 RGS22 0 genome.wustl.edu 37 8 101059816 101059816 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 101059816 101059816 T G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.1698 p.E566D 0.431 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 50 0 0 51 15 22.7273 SNX31 0 genome.wustl.edu 37 8 101624268 101624268 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 101624268 101624268 T C SNP SNX31 ENST00000311812 human ensembl 74_37 -1 known missense c.571 p.S191G 0.907 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX31 HGNC ENSG00000174226 50 0 0 74 15 16.8539 BLK 0 genome.wustl.edu 37 8 11414188 11414188 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 11414188 11414188 A G SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.794 p.K265R 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_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 94 0 0 57 6 9.52381 ENPP2 0 genome.wustl.edu 37 8 120650688 120650688 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 120650688 120650688 C T SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.113 p.G38E 1.000 NULL 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,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 112 0 0 106 12 10.1695 COL14A1 0 genome.wustl.edu 37 8 121238870 121238870 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 121238870 121238870 A C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.1869 p.E623D 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,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 COL14A1 HGNC ENSG00000187955 59 0 0 28 7 20 COL14A1 0 genome.wustl.edu 37 8 121259915 121259915 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 121259915 121259915 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2543 p.T848M 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,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 COL14A1 HGNC ENSG00000187955 97 0 0 51 34 40 HAS2 0 genome.wustl.edu 37 8 122626360 122626360 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 122626360 122626360 G A SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.1648 p.L550F 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 116 0 0 148 13 8.07453 ZHX2 0 genome.wustl.edu 37 8 123964340 123964340 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 123964340 123964340 A G SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.590 p.K197R 1.000 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 176 0 0 82 22 21.1538 TG 0 genome.wustl.edu 37 8 133925381 133925381 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 133925381 133925381 T G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4249 p.F1417V 0.951 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 97 0 0 45 8 15.0943 SLA 0 genome.wustl.edu 37 8 134072452 134072452 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 134072452 134072452 T G SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.74 p.Y25S 0.005 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 68 0 0 73 11 13.0952 ZFAT 0 genome.wustl.edu 37 8 135649941 135649941 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 135649941 135649941 T G SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.211 p.K71Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 94 0 0 77 12 13.4831 COL22A1 0 genome.wustl.edu 37 8 139767741 139767741 + Missense_Mutation SNP C C A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 139767741 139767741 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1961 p.G654V 1.000 NULL 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 296 0 0 266 45 14.4695 KCNK9 0 genome.wustl.edu 37 8 140631195 140631195 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 140631195 140631195 T G SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.431 p.K144T 1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 67 0 0 37 5 11.9048 SCRT1 0 genome.wustl.edu 37 8 145559797 145559797 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 145559797 145559797 A C SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.35 p.L12R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 26 0 0 23 5 17.8571 TONSL 0 genome.wustl.edu 37 8 145665443 145665443 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 145665443 145665443 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1441 p.E481K 0.004 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 62 0 0 41 5 10.8696 MTUS1 0 genome.wustl.edu 37 8 17611800 17611800 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 17611800 17611800 T A SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.1517 p.N506I 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 179 0 0 237 15 5.95238 LPL 0 genome.wustl.edu 37 8 19810899 19810899 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 19810899 19810899 A C SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.508 p.S170R 1.000 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 84 0 0 53 4 7.01754 LPL 0 genome.wustl.edu 37 8 19818548 19818548 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 19818548 19818548 T C SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.1276 p.F426L 0.007 pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 67 0 0 66 6 8.33333 SLC39A14 0 genome.wustl.edu 37 8 22273409 22273409 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 22273409 22273409 A G SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known missense c.878 p.E293G 0.839 pfam_ZIP pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 186 0 0 102 8 7.27273 ADAM7 0 genome.wustl.edu 37 8 24350015 24350015 + Silent SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 24350015 24350015 A T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known silent c.1560 p.I520 0.034 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,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 70 0 0 37 6 13.9535 PPP2R2A 0 genome.wustl.edu 37 8 26221361 26221361 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 26221361 26221361 A T SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.927 p.K309N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 79 0 0 57 5 8.06452 UBXN8 0 genome.wustl.edu 37 8 30623750 30623750 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 30623750 30623750 T G SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors UBXN8 HGNC ENSG00000104691 55 0 0 26 8 23.5294 FGFR1 0 genome.wustl.edu 37 8 38271243 38271243 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 38271243 38271243 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.2465 p.G822E 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 67 0 0 36 3 7.69231 TOX 0 genome.wustl.edu 37 8 59750826 59750826 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 59750826 59750826 T G SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.738 p.K246N 1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 137 0 0 78 15 16.129 ADHFE1 0 genome.wustl.edu 37 8 67356709 67356709 + RNA SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 67356709 67356709 A G SNP ADHFE1 ENST00000518781 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors ADHFE1 HGNC ENSG00000147576 46 0 0 32 6 15.7895 MCMDC2 0 genome.wustl.edu 37 8 67808561 67808561 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 67808561 67808561 T G SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1436 p.I479S 1.000 superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 89 0 0 70 22 23.913 PREX2 0 genome.wustl.edu 37 8 69069659 69069659 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 69069659 69069659 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4334 p.N1445T 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 58 0 0 36 6 14.2857 TRPA1 0 genome.wustl.edu 37 8 72946061 72946061 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 72946061 72946061 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2686 p.D896N 1.000 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 51 0 0 30 10 25 SGK223 0 genome.wustl.edu 37 8 8234739 8234739 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 8234739 8234739 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.1180 p.E394K 0.201 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 64 0 0 38 6 13.6364 LRRCC1 0 genome.wustl.edu 37 8 86041521 86041521 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 86041521 86041521 A G SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known silent c.1533 p.K511 0.408 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 171 0 0 98 15 13.2743 ATP6V0D2 0 genome.wustl.edu 37 8 87125995 87125995 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 87125995 87125995 A C SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known missense c.188 p.N63T 0.567 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 107 0 0 74 27 26.7327 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 88365898 88365898 T G SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396R 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 44 0 0 27 9 25 TMEM67 0 genome.wustl.edu 37 8 94822056 94822056 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 94822056 94822056 T A SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.2705 p.L902H 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 46 0 0 24 6 20 GEM 0 genome.wustl.edu 37 8 95264363 95264363 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 95264363 95264363 T C SNP GEM ENST00000297596 human ensembl 74_37 -1 known missense c.497 p.E166G 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 114 0 0 60 6 9.09091 KIAA1429 0 genome.wustl.edu 37 8 95501040 95501040 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 95501040 95501040 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.5333 p.L1778P 0.715 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 183 0 0 116 12 9.375 C8orf47 0 genome.wustl.edu 37 8 99101485 99101485 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 99101485 99101485 A T SNP C8orf47 ENST00000318528 human ensembl 74_37 +1 known missense c.240 p.Q80H 0.001 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 154 0 0 94 5 5.05051 GRIN3A 0 genome.wustl.edu 37 9 104433060 104433060 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 104433060 104433060 T G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.1634 p.D545A 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 103 1 0.961538 44 22 33.3333 DMRT2 0 genome.wustl.edu 37 9 1056580 1056580 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 1056580 1056580 T C SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known silent c.993 p.T331 0.977 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 108 0 0 54 15 21.7391 KIAA0368 0 genome.wustl.edu 37 9 114124385 114124385 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 114124385 114124385 A G SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.5979 p.T1993 0.751 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 90 0 0 96 12 11.1111 OR1N1 0 genome.wustl.edu 37 9 125289162 125289162 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 125289162 125289162 T G SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.411 p.Q137H 0.000 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 OR1N1 HGNC ENSG00000171505 68 0 0 29 3 9.375 OR1L1 0 genome.wustl.edu 37 9 125423888 125423888 + Missense_Mutation SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 125423888 125423888 T A SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.44 p.F15Y 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 19 0 0 18 4 18.1818 OR1L4 0 genome.wustl.edu 37 9 125486878 125486878 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 125486878 125486878 A T SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.610 p.T204S 0.998 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 OR1L4 HGNC ENSG00000136939 438 0 0 189 63 25 HSPA5 0 genome.wustl.edu 37 9 128003292 128003292 + Silent SNP G G T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 128003292 128003292 G T SNP HSPA5 ENST00000324460 human ensembl 74_37 -1 known silent c.114 p.T38 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 231 0 0 75 46 38.0165 NUP188 0 genome.wustl.edu 37 9 131757652 131757652 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 131757652 131757652 A C SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.3210 p.K1070N 0.996 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 127 0 0 78 6 7.14286 TTF1 0 genome.wustl.edu 37 9 135277028 135277028 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 135277028 135277028 A C SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1181 p.L394R 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 128 0 0 67 13 16.25 DBH 0 genome.wustl.edu 37 9 136508598 136508598 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 136508598 136508598 G A SNP DBH ENST00000393056 human ensembl 74_37 +1 known missense c.808 p.A270T 0.011 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 142 0 0 16 36 69.2308 NELFB 0 genome.wustl.edu 37 9 140150786 140150786 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 140150786 140150786 A G SNP NELFB ENST00000343053 human ensembl 74_37 +1 known missense c.272 p.K91R 0.997 NULL pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 126 0 0 94 5 5.05051 HAUS6 0 genome.wustl.edu 37 9 19093208 19093208 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 19093208 19093208 T G SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known silent c.397 p.R133 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 29 0 0 22 13 37.1429 IFNA5 0 genome.wustl.edu 37 9 21304715 21304715 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 21304715 21304715 A G SNP IFNA5 ENST00000259555 human ensembl 74_37 -1 known silent c.541 p.L181 0.001 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 IFNA5 HGNC ENSG00000147873 271 0 0 200 45 18.3673 TAF1L 0 genome.wustl.edu 37 9 32634227 32634227 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 32634227 32634227 T G SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.1351 p.S451R 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 220 0 0 170 48 22.0183 DNAI1 0 genome.wustl.edu 37 9 34500839 34500839 + Splice_Site SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 34500839 34500839 T G SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known splice_site c.1019+2 e11+2 1.000 - - - no_errors DNAI1 HGNC ENSG00000122735 58 0 0 25 7 21.875 UNC13B 0 genome.wustl.edu 37 9 35310525 35310525 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 35310525 35310525 A T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.823 p.S275C 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 170 0 0 114 11 8.8 TLN1 0 genome.wustl.edu 37 9 35716443 35716443 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 35716443 35716443 A C SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.2569 p.L857V 0.957 NULL 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 166 0 0 100 12 10.7143 DCAF10 0 genome.wustl.edu 37 9 37861498 37861498 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 37861498 37861498 A C SNP DCAF10 ENST00000377724 human ensembl 74_37 +1 known missense c.1673 p.K558T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 79 0 0 97 10 9.34579 SLC25A51 0 genome.wustl.edu 37 9 37887778 37887778 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 37887778 37887778 A C SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.770 p.I257S 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 SLC25A51 HGNC ENSG00000122696 61 0 0 75 11 12.7907 VPS13A 0 genome.wustl.edu 37 9 79890551 79890551 + Silent SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 79890551 79890551 A C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known silent c.2650 p.R884 0.530 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 109 0 0 50 32 39.0244 SPATA31D5P 0 genome.wustl.edu 37 9 84532534 84532534 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 84532534 84532534 T G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SPATA31D5P HGNC ENSG00000240632 74 0 0 27 20 42.5532 PTPRD 0 genome.wustl.edu 37 9 8465495 8465495 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 8465495 8465495 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3685 p.V1229M 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 93 18 16.2162 PTPRD 0 genome.wustl.edu 37 9 8504266 8504266 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 8504266 8504266 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1817 p.Q606R 1.000 superfamily_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 122 0 0 86 9 9.47368 C9orf153 0 genome.wustl.edu 37 9 88842926 88842926 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 88842926 88842926 C T SNP C9orf153 ENST00000339137 human ensembl 74_37 -1 known missense c.86 p.C29Y 0.000 NULL NULL - no_errors C9orf153 HGNC ENSG00000187753 22 0 0 8 4 33.3333 PTPDC1 0 genome.wustl.edu 37 9 96860695 96860695 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 96860695 96860695 A C SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known missense c.1685 p.E562A 0.001 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 186 0 0 91 7 7.14286 CDC14B 0 genome.wustl.edu 37 9 99325055 99325055 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 99325055 99325055 A C SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.340 p.L114V 0.684 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 CDC14B HGNC ENSG00000081377 66 0 0 32 16 33.3333 CTSV 0 genome.wustl.edu 37 9 99800269 99800269 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 9 99800269 99800269 T C SNP CTSV ENST00000259470 human ensembl 74_37 -1 known silent c.57 p.P19 0.396 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSV HGNC ENSG00000136943 79 0 0 41 18 30.5085 CLCN4 0 genome.wustl.edu 37 X 10176510 10176510 + Silent SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 10176510 10176510 T G SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known silent c.1269 p.T423 0.789 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-4 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 202 2 0.980392 200 29 12.6638 H2BFWT 0 genome.wustl.edu 37 X 103268024 103268024 + Missense_Mutation SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 103268024 103268024 C T SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known missense c.209 p.R70H 0.002 superfamily_Histone-fold pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 53 0 0 22 6 21.4286 CHRDL1 0 genome.wustl.edu 37 X 109937440 109937440 + Silent SNP T T A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 109937440 109937440 T A SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known silent c.729 p.S243 0.289 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 120 0 0 75 42 35.8974 GRIA3 0 genome.wustl.edu 37 X 122387364 122387364 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 122387364 122387364 A C SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.479 p.K160T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 73 0 0 83 5 5.68182 ENSG00000265082 0 genome.wustl.edu 37 X 122598971 122598971 + RNA SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 122598971 122598971 G A SNP ENSG00000265082 ENST00000577653 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors AL356213.1 Clone_based_ensembl_gene ENSG00000265082 48 0 0 46 28 37.8378 THOC2 0 genome.wustl.edu 37 X 122801084 122801084 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 122801084 122801084 T C SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.1063 p.I355V 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 43 0 0 45 14 23.7288 TENM1 0 genome.wustl.edu 37 X 123654414 123654414 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 123654414 123654414 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3254 p.K1085T 1.000 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 85 0 0 103 9 8.03571 UTP14A 0 genome.wustl.edu 37 X 129055486 129055486 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 129055486 129055486 T G SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.1271 p.F424C 0.997 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 43 0 0 35 6 14.6341 MBNL3 0 genome.wustl.edu 37 X 131540287 131540287 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 131540287 131540287 A G SNP MBNL3 ENST00000370853 human ensembl 74_37 -1 known missense c.311 p.L104P 1.000 NULL smart_Znf_CCCH - no_errors MBNL3 HGNC ENSG00000076770 75 0 0 66 10 13.1579 GPC3 0 genome.wustl.edu 37 X 132888059 132888059 + Missense_Mutation SNP A A T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 132888059 132888059 A T SNP GPC3 ENST00000394299 human ensembl 74_37 -1 known missense c.482 p.I161N 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 141 0 0 91 72 44.1718 PLAC1 0 genome.wustl.edu 37 X 133700438 133700438 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 133700438 133700438 A C SNP PLAC1 ENST00000359237 human ensembl 74_37 -1 known missense c.275 p.V92G 0.002 NULL NULL - no_errors PLAC1 HGNC ENSG00000170965 130 0 0 74 44 37.2881 GPR101 0 genome.wustl.edu 37 X 136113511 136113511 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 136113511 136113511 A C SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.323 p.V108G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 36 0 0 15 11 42.3077 SLITRK2 0 genome.wustl.edu 37 X 144904311 144904311 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 144904311 144904311 A G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.368 p.E123G 1.000 smart_Leu-rich_rpt_typical-subtyp 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 66 0 0 32 30 48.3871 MIR513A1 0 genome.wustl.edu 37 X 146295015 146295015 + RNA SNP C C T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 146295015 146295015 C T SNP MIR513A1 ENST00000385138 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors MIR513A1 HGNC ENSG00000207873 45 0 0 28 3 9.67742 DUSP9 0 genome.wustl.edu 37 X 152915040 152915040 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 152915040 152915040 T G SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.727 p.F243V 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 147 0 0 66 46 41.0714 F8 0 genome.wustl.edu 37 X 154157811 154157811 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 154157811 154157811 A C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.4254 p.I1418M 0.000 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 96 0 0 108 16 12.9032 MXRA5 0 genome.wustl.edu 37 X 3240744 3240744 + Silent SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 3240744 3240744 T C SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.2982 p.K994 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 66 0 0 41 27 39.7059 DMD 0 genome.wustl.edu 37 X 32834689 32834689 + Missense_Mutation SNP G G C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 32834689 32834689 G C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.426 p.S142R 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain 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 66 0 0 74 11 12.9412 FAM47A 0 genome.wustl.edu 37 X 34148076 34148076 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 34148076 34148076 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.2320 p.R774C 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 62 0 0 49 19 27.9412 XK 0 genome.wustl.edu 37 X 37586943 37586943 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 37586943 37586943 A C SNP XK ENST00000378616 human ensembl 74_37 +1 known missense c.563 p.N188T 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 35 0 0 25 10 28.5714 CYBB 0 genome.wustl.edu 37 X 37660536 37660536 + Missense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 37660536 37660536 T G SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.832 p.F278V 0.993 superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 107 0 0 85 42 33.0709 GPR82 0 genome.wustl.edu 37 X 41587063 41587063 + Missense_Mutation SNP T T C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 41587063 41587063 T C SNP GPR82 ENST00000302548 human ensembl 74_37 +1 known missense c.784 p.F262L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 27 0 0 32 6 15.7895 MAOA 0 genome.wustl.edu 37 X 43591072 43591072 + Nonsense_Mutation SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 43591072 43591072 T G SNP MAOA ENST00000338702 human ensembl 74_37 +1 known nonsense c.927 p.Y309* 1.000 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 52 0 0 40 3 6.97674 RP2 0 genome.wustl.edu 37 X 46713334 46713334 + Missense_Mutation SNP G G A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 46713334 46713334 G A SNP RP2 ENST00000218340 human ensembl 74_37 +1 known missense c.526 p.D176N 1.000 pfam_Tubulin-bd_cofactor_C_dom,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 44 0 0 8 61 88.4058 SSX7 0 genome.wustl.edu 37 X 52677333 52677333 + Silent SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 52677333 52677333 A G SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known silent c.444 p.S148 0.016 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 148 0 0 137 17 11.039 RIBC1 0 genome.wustl.edu 37 X 53455348 53455348 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 53455348 53455348 A C SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known missense c.317 p.K106T 0.119 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 37 0 0 19 5 20.8333 XIST 0 genome.wustl.edu 37 X 73063677 73063677 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 73063677 73063677 T G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 28 0 0 17 9 34.6154 XIST 0 genome.wustl.edu 37 X 73071560 73071560 + RNA SNP T T G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 73071560 73071560 T G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 40 0 0 29 12 29.2683 LPAR4 0 genome.wustl.edu 37 X 78011340 78011340 + Missense_Mutation SNP A A C TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 78011340 78011340 A C SNP LPAR4 ENST00000435339 human ensembl 74_37 +1 known missense c.974 p.N325T 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR4 HGNC ENSG00000147145 74 0 0 84 9 9.67742 CYLC1 0 genome.wustl.edu 37 X 83128425 83128425 + Missense_Mutation SNP A A G TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 83128425 83128425 A G SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.709 p.I237V 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 21 0 0 10 3 23.0769 PIGR 0 genome.wustl.edu 37 1 207107909 207107910 + Frame_Shift_Ins INS - - A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 1 207107909 207107910 - A INS PIGR ENST00000356495 human ensembl 74_37 -1 known frame_shift_ins c.1561_1560 p.D520fs 0.000:0.013 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 186 0 0 47 41 46.5909 HECTD2 0 genome.wustl.edu 37 10 93247480 93247481 + Frame_Shift_Ins INS - - A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 10 93247480 93247481 - A INS HECTD2 ENST00000446394 human ensembl 74_37 +1 known frame_shift_ins c.1148_1149 p.I386fs 1.000:1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 84 0 0 43 9 17.3077 NAV2 0 genome.wustl.edu 37 11 20122681 20122681 + Frame_Shift_Del DEL T T - TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 20122681 20122681 T - DEL NAV2 ENST00000396087 human ensembl 74_37 +1 known frame_shift_del c.6557 p.I2187fs 0.992 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 175 0 0 58 20 25.641 ZDHHC5 0 genome.wustl.edu 37 11 57466855 57466857 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 11 57466855 57466857 AGA - DEL ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known in_frame_del c.1947_1949 p.E651in_frame_del 0.122:0.994:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 116 0 0 56 37 39.7849 SCTR 0 genome.wustl.edu 37 2 120204334 120204334 + Splice_Site DEL C C - TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 120204334 120204334 C - DEL SCTR ENST00000019103 human ensembl 74_37 -1 known splice_site_del c.1140+1 e11+1 1.000 - - - no_errors SCTR HGNC ENSG00000080293 118 0 0 40 32 44.4444 TSPYL6 0 genome.wustl.edu 37 2 54483114 54483114 + Frame_Shift_Del DEL C C - TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 54483114 54483114 C - DEL TSPYL6 ENST00000317802 human ensembl 74_37 -1 known frame_shift_del c.175 p.V59fs 0.002 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 207 0 0 100 25 20 GGCX 0 genome.wustl.edu 37 2 85779059 85779059 + Frame_Shift_Del DEL G G - TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 2 85779059 85779059 G - DEL GGCX ENST00000233838 human ensembl 74_37 -1 known frame_shift_del c.1485 p.Q497fs 0.825 pfam_VKG_COase pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 187 0 0 172 13 7.02703 SGOL1 0 genome.wustl.edu 37 3 20212716 20212717 + Frame_Shift_Ins INS - - T TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 3 20212716 20212717 - T INS SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_ins c.1291_1290 p.P430fs 0.952:0.910 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 62 0 0 40 10 20 CCNC 0 genome.wustl.edu 37 6 100006295 100006296 + Frame_Shift_Ins INS - - A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 6 100006295 100006296 - A INS CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_ins c.424_423 p.S141fs 0.003:0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 21 0 0 16 3 15.7895 COLEC10 0 genome.wustl.edu 37 8 120079640 120079643 + Frame_Shift_Del DEL CACA CACA - TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 CACA CACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c 8 120079640 120079643 CACA - DEL COLEC10 ENST00000332843 human ensembl 74_37 +1 known frame_shift_del c.120_123 p.H42fs 0.996:1.000:1.000:0.998 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 52 0 0 48 10 17.2414 FANCB 0 genome.wustl.edu 37 X 14868798 14868799 + Splice_Site INS - - A TCGA-HU-A4GH-01A-11D-A24D-08 TCGA-HU-A4GH-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eda886c2-d0fa-45c4-9a39-6b1256075100 dd1475c3-d723-4f2d-8327-a6dbc800a42c X 14868798 14868799 - A INS FANCB ENST00000324138 human ensembl 74_37 -1 known splice_site_ins c.1327-3_1327-2 e5-2 0.001:0.101 - - - no_errors FANCB HGNC ENSG00000181544 9 0 0 17 9 34.6154