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 ABCA9 0 genome.wustl.edu 37 17 67023947 67023947 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 67023947 67023947 G T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.1625 p.T542N 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 tier1 - - 29 0 0.00 25 4 13.79 ABCB7 0 genome.wustl.edu 37 X 74288930 74288930 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 74288930 74288930 G T SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known missense c.1574 p.P525H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 tier1 - - 34 0 0.00 64 4 5.88 ABHD5 0 genome.wustl.edu 37 3 43753309 43753309 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 43753309 43753309 G T SNP ABHD5 ENST00000458276 human ensembl 74_37 +1 known missense c.615 p.L205F 1.000 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD5 HGNC ENSG00000011198 tier1 - - 84 0 0.00 36 28 43.75 ACADVL 0 genome.wustl.edu 37 17 7127299 7127299 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 7127299 7127299 G T SNP ACADVL ENST00000356839 human ensembl 74_37 +1 known nonsense c.1345 p.E449* 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 34 0 0.00 38 2 5.00 ACCSL 0 genome.wustl.edu 37 11 44080171 44080171 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 44080171 44080171 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known missense c.1546 p.R516C 0.003 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 tier1 - - 34 0 0.00 30 7 18.92 ADCY2 0 genome.wustl.edu 37 5 7820737 7820737 + Missense_Mutation SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 7820737 7820737 A T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.3058 p.I1020F 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 38 0 0.00 62 24 27.91 AGRN 0 genome.wustl.edu 37 1 989341 989341 + Missense_Mutation SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 989341 989341 C G SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.5860 p.R1954G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 tier1 - - 30 0 0.00 25 6 19.35 AHNAK 0 genome.wustl.edu 37 11 62284238 62284238 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 62284238 62284238 G T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known nonsense c.17651 p.S5884* 0.006 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 44 0 0.00 56 4 6.67 AK2 0 genome.wustl.edu 37 1 33476303 33476303 + RNA SNP G G C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 33476303 33476303 G C SNP AK2 ENST00000491241 human ensembl 74_37 -1 known rna NULL NULL 0.093 - - - no_errors AK2 HGNC ENSG00000004455 tier1 - - 85 0 0.00 103 11 9.65 AKNA 0 genome.wustl.edu 37 9 117106127 117106127 + RNA SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 117106127 117106127 G T SNP AKNA ENST00000492875 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AKNA HGNC ENSG00000106948 tier1 - - 30 0 0.00 57 4 6.56 ALPK1 0 genome.wustl.edu 37 4 113352696 113352696 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 113352696 113352696 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.1993 p.P665S 0.002 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 tier1 - - 60 0 0.00 62 4 6.06 AMPH 0 genome.wustl.edu 37 7 38468144 38468144 + RNA SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 38468144 38468144 C A SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 55 0 0.00 41 21 33.87 ANKRD36 0 genome.wustl.edu 37 2 97779555 97779555 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 97779555 97779555 C T SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.79 p.P27S 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 47 0 0.00 79 7 8.14 ANKRD36BP2 0 genome.wustl.edu 37 2 89100923 89100924 + RNA INS - - G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 89100923 89100924 - G INS ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.030 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 12 0 0.00 30 13 30.23 AP2A2 0 genome.wustl.edu 37 11 926053 926053 + Frame_Shift_Del DEL G G - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 926053 926053 G - DEL AP2A2 ENST00000332231 human ensembl 74_37 +1 known frame_shift_del c.32 p.G12fs 1.000 superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 15 0 0.00 9 2 18.18 API5 0 genome.wustl.edu 37 11 43364068 43364068 + Silent SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 43364068 43364068 A G SNP API5 ENST00000534695 human ensembl 74_37 +1 putative silent c.237 p.T79 0.018 NULL pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 tier1 - - 25 0 0.00 26 11 29.73 APLNR 0 genome.wustl.edu 37 11 57004102 57004102 + Missense_Mutation SNP T T G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 57004102 57004102 T G SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.377 p.D126A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 - - 31 0 0.00 23 4 14.81 ARHGAP11B 0 genome.wustl.edu 37 15 30918322 30918322 + RNA DEL C C - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 30918322 30918322 C - DEL ARHGAP11B ENST00000567449 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors ARHGAP11B HGNC ENSG00000187951 tier1 13 0 0.00 14 2 12.50 ARHGEF15 0 genome.wustl.edu 37 17 8215743 8215743 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 8215743 8215743 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.386 p.T129M 0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 87 0 0.00 73 4 5.19 ARID1B 0 genome.wustl.edu 37 6 157505527 157505527 + Frame_Shift_Del DEL G G - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 157505527 157505527 G - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.3628 p.D1211fs 0.792 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 30 0 0.00 47 4 7.84 ASB6 0 genome.wustl.edu 37 9 132400881 132400881 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 132400881 132400881 G T SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.569 p.T190N 0.985 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 tier1 - - 44 0 0.00 43 4 8.51 ASPG 0 genome.wustl.edu 37 14 104570719 104570719 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 104570719 104570719 G T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.832 p.D278Y 0.998 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 tier1 - - 87 0 0.00 64 51 43.97 ASRGL1 0 genome.wustl.edu 37 11 62105564 62105564 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 62105564 62105564 C T SNP ASRGL1 ENST00000301776 human ensembl 74_37 +1 known missense c.115 p.R39W 0.107 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 tier1 - - 32 0 0.00 32 18 36.00 ATG4B 0 genome.wustl.edu 37 2 242606219 242606219 + Missense_Mutation SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 242606219 242606219 C G SNP ATG4B ENST00000404914 human ensembl 74_37 +1 known missense c.698 p.T233R 0.932 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4B HGNC ENSG00000168397 12 0 0.00 11 3 21.43 ATP13A2 0 genome.wustl.edu 37 1 17323611 17323611 + Nonsense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 17323611 17323611 C A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known nonsense c.1099 p.E367* 0.999 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase 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 28 0 0.00 35 2 5.41 BRPF1 0 genome.wustl.edu 37 3 9783054 9783054 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 9783054 9783054 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.1785 p.R595 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 tier1 - - 33 0 0.00 41 4 8.89 BSDC1 0 genome.wustl.edu 37 1 32841985 32841985 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 32841985 32841985 C T SNP BSDC1 ENST00000341071 human ensembl 74_37 -1 known missense c.1085 p.G362D 0.003 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC ENSG00000160058 tier1 - - 18 0 0.00 32 8 19.51 BVES 0 genome.wustl.edu 37 6 105573372 105573372 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 105573372 105573372 G T SNP BVES ENST00000314641 human ensembl 74_37 -1 known missense c.433 p.L145I 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 tier1 - - 61 0 0.00 49 4 7.55 C19orf68 0 genome.wustl.edu 37 19 48675270 48675270 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 48675270 48675270 C T SNP C19orf68 ENST00000328759 human ensembl 74_37 +1 known missense c.211 p.L71F 1.000 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 tier1 - - 28 0 0.00 46 10 17.86 C1orf173 0 genome.wustl.edu 37 1 75037442 75037442 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 75037442 75037442 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3952 p.G1318W 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 40 0 0.00 29 2 6.45 C2CD3 0 genome.wustl.edu 37 11 73785305 73785305 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 73785305 73785305 G T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.4944 p.S1648R 0.997 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 36 0 0.00 47 4 7.84 C5orf45 0 genome.wustl.edu 37 5 179264464 179264464 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 179264464 179264464 T C SNP C5orf45 ENST00000292586 human ensembl 74_37 -1 known missense c.959 p.E320G 0.000 NULL NULL - no_errors C5orf45 HGNC ENSG00000161010 29 0 0.00 32 4 11.11 C7 0 genome.wustl.edu 37 5 40959629 40959629 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 40959629 40959629 G T SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1568 p.C523F 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 tier1 - - 33 0 0.00 34 5 12.82 C9orf50 0 genome.wustl.edu 37 9 132382092 132382092 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 132382092 132382092 G T SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known missense c.526 p.H176N 0.000 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 41 0 0.00 60 4 6.25 CACNA1H 0 genome.wustl.edu 37 16 1259375 1259375 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 1259375 1259375 G T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.3707 p.R1236L 0.987 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 59 0 0.00 65 4 5.71 CALCOCO1 0 genome.wustl.edu 37 12 54118467 54118467 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 54118467 54118467 G T SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known missense c.221 p.T74N 0.781 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 tier1 - - 78 0 0.00 44 4 8.33 CAPN13 0 genome.wustl.edu 37 2 30957354 30957354 + Missense_Mutation SNP G G C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 30957354 30957354 G C SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.1759 p.L587V 0.630 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 43 0 0.00 43 20 30.77 CASC5 0 genome.wustl.edu 37 15 40914458 40914458 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 40914458 40914458 A G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2074 p.I692V 0.008 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 29 0 0.00 15 8 34.78 CASKIN1 0 genome.wustl.edu 37 16 2236814 2236814 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 2236814 2236814 C T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known silent c.942 p.Q314 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 tier1 - - 36 0 0.00 63 4 5.97 CBFA2T2 0 genome.wustl.edu 37 20 32228152 32228152 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 20 32228152 32228152 G T SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known missense c.1330 p.A444S 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 tier1 - - 40 0 0.00 34 4 10.53 CCDC120 0 genome.wustl.edu 37 X 48924907 48924908 + Frame_Shift_Del DEL TG TG - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 48924907 48924908 TG - DEL CCDC120 ENST00000603986 human ensembl 74_37 +1 known frame_shift_del c.1257_1258 p.A420fs 0.971:0.958 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 tier1 9 0 0.00 10 2 16.67 CCDC39 0 genome.wustl.edu 37 3 180372723 180372723 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 180372723 180372723 G T SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.757 p.Q253K 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 71 0 0.00 84 29 25.66 CCHCR1 0 genome.wustl.edu 37 6 31122386 31122386 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 31122386 31122386 C T SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known missense c.688 p.A230T 0.234 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 tier1 - - 40 0 0.00 50 4 7.41 CCNB3 0 genome.wustl.edu 37 X 50090673 50090673 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 50090673 50090673 G T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known nonsense c.3859 p.E1287* 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 tier1 - - 28 0 0.00 27 4 12.90 CHEK1 0 genome.wustl.edu 37 11 125503112 125503112 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 125503112 125503112 G T SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known missense c.479 p.R160L 0.998 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 CHEK1 HGNC ENSG00000149554 55 0 0.00 51 3 5.56 CKAP5 0 genome.wustl.edu 37 11 46765717 46765718 + Frame_Shift_Ins INS - - AGCA TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 46765717 46765718 - AGCA INS CKAP5 ENST00000415402 human ensembl 74_37 -1 known frame_shift_ins c.5976_5975 p.R1993fs 1.000:1.000 NULL pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 36 0 0.00 42 9 17.65 COL4A5 0 genome.wustl.edu 37 X 107842050 107842050 + Frame_Shift_Del DEL A A - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 107842050 107842050 A - DEL COL4A5 ENST00000328300 human ensembl 74_37 +1 known frame_shift_del c.1898 p.G635fs 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 39 0 0.00 37 2 5.13 COL6A5 0 genome.wustl.edu 37 3 130190616 130190616 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 130190616 130190616 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.7665 p.G2555 0.055 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 42 0 0.00 57 4 6.56 CPNE4 0 genome.wustl.edu 37 3 131442353 131442353 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 131442353 131442353 G T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.351 p.S117R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 53 0 0.00 75 4 5.06 CRISP3 0 genome.wustl.edu 37 6 49700981 49700981 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 49700981 49700981 C T SNP CRISP3 ENST00000433368 human ensembl 74_37 -1 known missense c.517 p.V173I 0.009 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 tier1 - - 55 0 0.00 55 18 24.66 CROT 0 genome.wustl.edu 37 7 87020907 87020907 + Missense_Mutation SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 87020907 87020907 C G SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.1304 p.P435R 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 tier1 - - 33 0 0.00 35 15 29.41 CSNK1G2 0 genome.wustl.edu 37 19 1969882 1969884 + In_Frame_Del DEL GGG GGG - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 GGG GGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 1969882 1969884 GGG 0 DEL CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known in_frame_del c.111_113 p.G38in_frame_del 0.105:0.997:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 120 0 0.00 78 7 8.24 CYFIP2 0 genome.wustl.edu 37 5 156787307 156787307 + Silent SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 156787307 156787307 C G SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.2910 p.L970 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 tier1 - - 72 0 0.00 26 34 56.67 DAAM1 0 genome.wustl.edu 37 14 59787247 59787247 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 59787247 59787247 G T SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known nonsense c.385 p.E129* 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 39 0 0.00 57 3 5.00 DCAF10 0 genome.wustl.edu 37 9 37842093 37842093 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 37842093 37842093 G T SNP DCAF10 ENST00000377724 human ensembl 74_37 +1 known missense c.661 p.D221Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF10 HGNC ENSG00000122741 tier1 - - 42 0 0.00 30 4 11.76 DCTN2 0 genome.wustl.edu 37 12 57927734 57927734 + Splice_Site SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 57927734 57927734 A T SNP DCTN2 ENST00000434715 human ensembl 74_37 -1 known splice_site c.684+2 e9+2 0.999 - - - no_errors DCTN2 HGNC ENSG00000175203 tier1 - - 77 0 0.00 54 20 27.03 DDX19B 0 genome.wustl.edu 37 16 70351454 70351454 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 70351454 70351454 A G SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.352 p.I118V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 tier1 - - 63 0 0.00 32 35 52.24 DDX5 0 genome.wustl.edu 37 17 62496054 62496054 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 62496054 62496054 C A SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known missense c.1832 p.G611V 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 tier1 - - 30 0 0.00 18 21 53.85 DEPDC1 0 genome.wustl.edu 37 1 68947259 68947259 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 68947259 68947259 T C SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.1799 p.D600G 0.958 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 tier1 - - 80 0 0.00 84 18 17.65 DGKK 0 genome.wustl.edu 37 X 50146073 50146073 + RNA SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 50146073 50146073 A G SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 20 0 0.00 10 18 64.29 DIDO1 0 genome.wustl.edu 37 20 61537402 61537402 + Frame_Shift_Del DEL T T - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 20 61537402 61537402 T - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.1425 p.E476fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 34 0 0.00 23 2 8.00 DLEU7 0 genome.wustl.edu 37 13 51397464 51397464 + Missense_Mutation SNP G G C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 13 51397464 51397464 G C SNP DLEU7 ENST00000504404 human ensembl 74_37 -1 known missense c.652 p.L218V 1.000 NULL NULL - no_errors DLEU7 HGNC ENSG00000186047 tier1 - - 48 0 0.00 28 34 54.84 DNHD1 0 genome.wustl.edu 37 11 6588195 6588195 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 6588195 6588195 T C SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.11456 p.I3819T 0.879 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 31 0 0.00 43 14 24.56 DOCK9 0 genome.wustl.edu 37 13 99534153 99534153 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 13 99534153 99534153 C A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.2671 p.V891L 0.997 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 tier1 - - 24 0 0.00 55 10 15.38 DUSP10 0 genome.wustl.edu 37 1 221875157 221875157 + RNA DEL A A - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 221875157 221875157 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 12 0 0.00 21 4 16.00 DYNC1LI1 0 genome.wustl.edu 37 3 32569958 32569958 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 32569958 32569958 G T SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.1442 p.P481Q 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 tier1 - - 40 0 0.00 40 4 9.09 EFCAB13 0 genome.wustl.edu 37 17 45422437 45422437 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 45422437 45422437 G T SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known nonsense c.490 p.G164* 0.001 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 tier1 - - 50 0 0.00 52 4 7.14 EFR3B 0 genome.wustl.edu 37 2 25366701 25366701 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 25366701 25366701 C A SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.2020 p.L674I 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 tier1 - - 54 0 0.00 46 4 8.00 EIF1AY 0 genome.wustl.edu 37 Y 22751375 22751375 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 Y 22751375 22751375 A G SNP EIF1AY ENST00000361365 human ensembl 74_37 +1 known missense c.343 p.I115V 1.000 superfamily_NA-bd_OB-fold pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AY HGNC ENSG00000198692 tier1 - - 23 0 0.00 12 32 72.73 EIF5B 0 genome.wustl.edu 37 2 99977012 99977012 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 99977012 99977012 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.246 p.K82 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 62 0 0.00 71 8 10.13 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65288 65288 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 GL000212.1 65288 65288 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1037 p.T346M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 30 0 0.00 30 6 16.67 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65289 65289 + Silent SNP G G C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 GL000212.1 65289 65289 G C SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.1038 p.T346 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 30 0 0.00 30 6 16.67 ENSG00000221219 0 genome.wustl.edu 37 4 54969776 54969776 + RNA SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 54969776 54969776 G A SNP ENSG00000221219 ENST00000408292 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC110298.1 Clone_based_ensembl_gene ENSG00000221219 tier1 - - 42 0 0.00 30 6 16.67 ENSG00000223759 0 genome.wustl.edu 37 1 149673218 149673219 + RNA INS - - C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 149673218 149673219 0 C INS ENSG00000223759 ENST00000443602 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.006 - - - no_errors RP11-353N4.4 Clone_based_vega_gene ENSG00000223759 12 0 0.00 10 3 23.08 ENSG00000225490 0 genome.wustl.edu 37 20 29521795 29521795 + RNA SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 20 29521795 29521795 C T SNP ENSG00000225490 ENST00000454331 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors RP4-610C12.3 Clone_based_vega_gene ENSG00000225490 tier1 - - 54 0 0.00 43 19 30.65 ENSG00000271894 0 genome.wustl.edu 37 2 56612129 56612129 + RNA SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 56612129 56612129 C T SNP ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 - - 60 0 0.00 76 20 20.83 ENSG00000272491 0 genome.wustl.edu 37 1 48694879 48694879 + RNA SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 48694879 48694879 C A SNP ENSG00000272491 ENST00000606809 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1024N4.4 Clone_based_vega_gene ENSG00000272491 tier1 - - 37 0 0.00 20 11 35.48 EPHA2 0 genome.wustl.edu 37 1 16464460 16464460 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 16464460 16464460 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.1200 p.S400 0.862 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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 51 0 0.00 46 3 6.12 EPHA3 0 genome.wustl.edu 37 3 89390109 89390109 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 89390109 89390109 G T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.858 p.K286N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHA3 HGNC ENSG00000044524 tier1 - - 62 0 0.00 51 5 8.93 ETNPPL 0 genome.wustl.edu 37 4 109674127 109674127 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 109674127 109674127 T C SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.542 p.D181G 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 tier1 - - 61 0 0.00 44 28 38.89 FAM107B 0 genome.wustl.edu 37 10 14816271 14816271 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 14816271 14816271 G T SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known nonsense c.392 p.S131* 1.000 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 tier1 - - 29 0 0.00 50 4 7.41 FAM129B 0 genome.wustl.edu 37 9 130271337 130271337 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 130271337 130271337 A G SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.1235 p.L412P 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 57 0 0.00 70 4 5.41 FAM160A1 0 genome.wustl.edu 37 4 152571182 152571182 + Silent SNP T T G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 152571182 152571182 T G SNP FAM160A1 ENST00000435205 human ensembl 74_37 +1 known silent c.1989 p.A663 0.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 tier1 - - 50 0 0.00 38 17 30.91 FAM168A 0 genome.wustl.edu 37 11 73130983 73130983 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 73130983 73130983 G T SNP FAM168A ENST00000064778 human ensembl 74_37 -1 known silent c.240 p.T80 1.000 NULL NULL - no_errors FAM168A HGNC ENSG00000054965 61 0 0.00 71 4 5.33 FAM72B 0 genome.wustl.edu 37 1 120854652 120854652 + RNA SNP T T G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 120854652 120854652 T G SNP FAM72B ENST00000471903 human ensembl 74_37 +1 known rna NULL NULL 0.633 - - - no_errors FAM72B HGNC ENSG00000188610 tier1 - - 42 0 0.00 27 14 34.15 FAM84B 0 genome.wustl.edu 37 8 127565642 127565642 + RNA SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 127565642 127565642 G T SNP FAM84B ENST00000517458 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM84B HGNC ENSG00000168672 tier1 - - 62 0 0.00 72 5 6.49 FANCC 0 genome.wustl.edu 37 9 98009794 98009794 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 98009794 98009794 G T SNP FANCC ENST00000289081 human ensembl 74_37 -1 known missense c.170 p.S57Y 0.058 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 27 0 0.00 28 2 6.67 FHAD1 0 genome.wustl.edu 37 1 15717703 15717703 + RNA SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 15717703 15717703 A G SNP FHAD1 ENST00000472449 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors FHAD1 HGNC ENSG00000142621 tier1 - - 53 0 0.00 39 23 36.51 FIGN 0 genome.wustl.edu 37 2 164468092 164468092 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 164468092 164468092 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.250 p.D84N 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 46 0 0.00 31 4 11.43 FLG 0 genome.wustl.edu 37 1 152280506 152280506 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 152280506 152280506 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6856 p.H2286Y 0.009 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 193 0 0.00 238 15 5.91 FLNC 0 genome.wustl.edu 37 7 128486363 128486363 + Frame_Shift_Del DEL C C - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 128486363 128486363 C - DEL FLNC ENST00000325888 human ensembl 74_37 +1 known frame_shift_del c.3973 p.L1325fs 0.656 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 22 0 0.00 20 2 9.09 FLT3 0 genome.wustl.edu 37 13 28623675 28623675 + Splice_Site SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 13 28623675 28623675 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known splice_site c.883-1 e8-1 1.000 - - - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 43 0 0.00 12 26 68.42 FLVCR2 0 genome.wustl.edu 37 14 76045398 76045398 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 76045398 76045398 C T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.83 p.S28L 0.737 superfamily_Trimer_LpxA-like pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 tier1 - - 72 0 0.00 70 28 28.57 FOXP1 0 genome.wustl.edu 37 3 71008342 71008342 + RNA DEL T T - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 71008342 71008342 T - DEL FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.439 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 29 0 0.00 24 3 11.11 FSIP2 0 genome.wustl.edu 37 2 186656763 186656763 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 186656763 186656763 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.5167 p.S1723P 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 9 0 0.00 24 9 27.27 GATM 0 genome.wustl.edu 37 15 45657033 45657033 + Nonsense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 45657033 45657033 C T SNP GATM ENST00000396659 human ensembl 74_37 -1 known nonsense c.1004 p.W335* 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 tier1 - - 52 0 0.00 52 4 7.14 GNB1L 0 genome.wustl.edu 37 22 19808147 19808147 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 22 19808147 19808147 C T SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known silent c.228 p.T76 0.311 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 - no_errors GNB1L HGNC ENSG00000185838 tier1 - - 93 0 0.00 73 28 27.72 GON4L 0 genome.wustl.edu 37 1 155785777 155785777 + RNA DEL A A - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 155785777 155785777 A - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 14 0 0.00 31 7 18.42 GPR88 0 genome.wustl.edu 37 1 101004692 101004692 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 101004692 101004692 C T SNP GPR88 ENST00000315033 human ensembl 74_37 +1 known missense c.170 p.S57L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR88 HGNC ENSG00000181656 tier1 - - 32 0 0.00 26 13 33.33 GREB1 0 genome.wustl.edu 37 2 11761097 11761097 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 11761097 11761097 G T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known nonsense c.4111 p.E1371* 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 32 0 0.00 36 2 5.26 GRWD1 0 genome.wustl.edu 37 19 48956267 48956267 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 48956267 48956267 C T SNP GRWD1 ENST00000253237 human ensembl 74_37 +1 known silent c.1326 p.R442 0.950 NULL pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GRWD1 HGNC ENSG00000105447 tier1 - - 19 0 0.00 24 7 22.58 GZF1 0 genome.wustl.edu 37 20 23350227 23350227 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 20 23350227 23350227 G T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1634 p.R545L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 25 0 0.00 26 3 10.34 HDDC2 0 genome.wustl.edu 37 6 125613988 125613988 + Missense_Mutation SNP T T A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 125613988 125613988 T A SNP HDDC2 ENST00000398153 human ensembl 74_37 -1 known missense c.377 p.E126V 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 tier1 - - 43 0 0.00 36 4 10.00 HIPK2 0 genome.wustl.edu 37 7 139416737 139416737 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 139416737 139416737 T C SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.97 p.I33V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 tier1 - - 36 0 0.00 37 16 30.19 HMGB1P5 0 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 18 0 0.00 20 3 13.04 HNRNPM 0 genome.wustl.edu 37 19 8536251 8536251 + Nonsense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 8536251 8536251 C T SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known nonsense c.937 p.Q313* 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 74 0 0.00 34 4 10.53 HPS4 0 genome.wustl.edu 37 22 26860750 26860750 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 22 26860750 26860750 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.885 p.Q295 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 13 0 0.00 21 3 12.50 HPS5 0 genome.wustl.edu 37 11 18327774 18327774 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 18327774 18327774 C T SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known silent c.732 p.R244 0.997 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 74 0 0.00 95 8 7.77 IFNA4 0 genome.wustl.edu 37 9 21187114 21187114 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 21187114 21187114 G A SNP IFNA4 ENST00000421715 human ensembl 74_37 -1 known silent c.417 p.S139 0.020 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA4 HGNC ENSG00000236637 tier1 - - 113 0 0.00 39 36 48.00 IGF2R 0 genome.wustl.edu 37 6 160525851 160525851 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 160525851 160525851 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.7211 p.G2404E 1.000 NULL pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 31 0 0.00 39 4 9.30 IMPG2 0 genome.wustl.edu 37 3 100963611 100963611 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 100963611 100963611 A G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1564 p.S522P 0.405 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 28 0 0.00 19 23 54.76 ING5 0 genome.wustl.edu 37 2 242662678 242662678 + Silent SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 242662678 242662678 A G SNP ING5 ENST00000313552 human ensembl 74_37 +1 known silent c.672 p.K224 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING5 HGNC ENSG00000168395 tier1 - - 73 0 0.00 45 36 44.44 INSIG2 0 genome.wustl.edu 37 2 118860856 118860856 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 118860856 118860856 C T SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.328 p.R110W 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 40 0 0.00 55 4 6.78 IPO9 0 genome.wustl.edu 37 1 201837796 201837796 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 201837796 201837796 G A SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.1876 p.A626T 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 tier1 - - 40 0 0.00 47 4 7.84 IPO9-AS1 0 genome.wustl.edu 37 1 201791219 201791219 + RNA SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 201791219 201791219 G A SNP IPO9-AS1 ENST00000421159 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors IPO9-AS1 HGNC ENSG00000231871 tier1 - - 53 0 0.00 37 10 21.28 KCTD16 0 genome.wustl.edu 37 5 143853578 143853578 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 143853578 143853578 G T SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.1188 p.E396D 0.997 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 30 0 0.00 32 3 8.57 KHDRBS2 0 genome.wustl.edu 37 6 62757860 62757860 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 62757860 62757860 A G SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.259 p.S87P 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 50 0 0.00 35 18 33.96 KIAA0947 0 genome.wustl.edu 37 5 5462676 5462676 + Silent SNP A A C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 5462676 5462676 A C SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.3229 p.R1077 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 26 0 0.00 45 30 40.00 KIF21A 0 genome.wustl.edu 37 12 39703470 39703471 + Frame_Shift_Ins INS - - A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 39703470 39703471 - A INS KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_ins c.4198_4197 p.T1399fs 1.000:0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 39 0 0.00 17 18 51.43 KIF5B 0 genome.wustl.edu 37 10 32324841 32324841 + Frame_Shift_Del DEL T T - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 32324841 32324841 T - DEL KIF5B ENST00000302418 human ensembl 74_37 -1 known frame_shift_del c.793 p.I265fs 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 tier1 50 0 0.00 30 20 40.00 KIR3DX1 0 genome.wustl.edu 37 19 55048095 55048095 + Missense_Mutation SNP A A C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 55048095 55048095 A C SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.662 p.Y221S 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 50 0 0.00 42 14 24.56 KMT2A 0 genome.wustl.edu 37 11 118343155 118343155 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 118343155 118343155 G T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.1281 p.R427 0.974 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 29 0 0.00 26 2 7.14 KRTAP13-4 0 genome.wustl.edu 37 21 31802694 31802694 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 21 31802694 31802694 C A SNP KRTAP13-4 ENST00000334068 human ensembl 74_37 +1 known missense c.101 p.A34D 0.004 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 tier1 - - 47 0 0.00 50 23 31.51 LDLRAD4 0 genome.wustl.edu 37 18 13645351 13645351 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 18 13645351 13645351 A G SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.616 p.R206G 0.993 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 41 0 0.00 24 2 7.69 LDLRAP1 0 genome.wustl.edu 37 1 25889481 25889481 + RNA SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 25889481 25889481 C G SNP LDLRAP1 ENST00000484476 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 - - 79 0 0.00 89 12 11.88 LGALS9C 0 genome.wustl.edu 37 17 18396131 18396131 + Silent SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 18396131 18396131 T C SNP LGALS9C ENST00000328114 human ensembl 74_37 +1 known silent c.882 p.S294 0.081 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9C HGNC ENSG00000171916 tier1 rs138238232 - 63 0 0.00 49 8 14.04 LGI2 0 genome.wustl.edu 37 4 25013980 25013980 + Missense_Mutation SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 25013980 25013980 A T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.797 p.F266Y 1.000 pfam_EPTP pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 tier1 - - 63 0 0.00 29 16 35.56 LIG1 0 genome.wustl.edu 37 19 48665527 48665527 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 48665527 48665527 G T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known silent c.99 p.P33 0.144 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 tier1 - - 36 0 0.00 35 4 10.26 LINC00341 0 genome.wustl.edu 37 14 95875694 95875694 + RNA SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 95875694 95875694 G T SNP LINC00341 ENST00000464767 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LINC00341 HGNC ENSG00000229645 29 0 0.00 35 4 10.26 LINC00623 0 genome.wustl.edu 37 1 149581283 149581283 + RNA SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 149581283 149581283 C T SNP LINC00623 ENST00000598569 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 tier1 - - 14 0 0.00 13 8 38.10 LMTK2 0 genome.wustl.edu 37 7 97820971 97820971 + Silent SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 97820971 97820971 C A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.1194 p.P398 0.107 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 38 0 0.00 55 3 5.17 LOC101927550 0 genome.wustl.edu 37 7 98630574 98630575 + RNA INS - - A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 98630574 98630575 - A INS LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 tier1 28 0 0.00 26 2 7.14 LOC101929676 0 genome.wustl.edu 37 4 119552902 119552902 + RNA SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 119552902 119552902 C G SNP LOC101929676 ENST00000567913 human ensembl 74_37 +1 known rna NULL NULL 0.461 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 21 0 0.00 25 5 16.67 LOC441666 0 genome.wustl.edu 37 10 42831134 42831134 + RNA SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 42831134 42831134 C T SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.071 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 rs78055338 - 24 0 0.00 18 14 43.75 MAP3K10 0 genome.wustl.edu 37 19 40718833 40718833 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 40718833 40718833 G T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known silent c.1674 p.T558 0.765 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 49 0 0.00 61 4 6.15 MARCH4 0 genome.wustl.edu 37 2 217234657 217234657 + Frame_Shift_Del DEL G G - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 217234657 217234657 G - DEL MARCH4 ENST00000273067 human ensembl 74_37 -1 known frame_shift_del c.327 p.L110fs 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 25 0 0.00 26 2 7.14 MBLAC2 0 genome.wustl.edu 37 5 89770101 89770101 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 89770101 89770101 C T SNP MBLAC2 ENST00000316610 human ensembl 74_37 -1 known silent c.9 p.A3 1.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC2 HGNC ENSG00000176055 tier1 - - 31 0 0.00 24 14 36.84 MCHR2 0 genome.wustl.edu 37 6 100395640 100395640 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 100395640 100395640 G T SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known missense c.390 p.D130E 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 44 0 0.00 36 3 7.69 MCMDC2 0 genome.wustl.edu 37 8 67793086 67793086 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 67793086 67793086 G T SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known nonsense c.712 p.E238* 1.000 superfamily_NA-bd_OB-fold,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 tier1 - - 39 0 0.00 59 4 6.35 MECOM 0 genome.wustl.edu 37 3 168810878 168810878 + Frame_Shift_Del DEL G G - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 168810878 168810878 G - DEL MECOM ENST00000494292 human ensembl 74_37 -1 known frame_shift_del c.3005 p.S1002fs 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 64 0 0.00 77 32 29.36 MED14 0 genome.wustl.edu 37 X 40541948 40541948 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 40541948 40541948 C A SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.2272 p.G758C 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 28 0 0.00 39 9 18.75 MGA 0 genome.wustl.edu 37 15 42041627 42041627 + Missense_Mutation SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 42041627 42041627 C G SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5822 p.S1941C 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 32 0 0.00 27 6 18.18 MIR1260A 0 genome.wustl.edu 37 14 77732623 77732623 + RNA DEL A A - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 77732623 77732623 A - DEL MIR1260A ENST00000408827 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR1260A HGNC ENSG00000221754 tier1 35 0 0.00 36 4 10.00 MIR3648 0 genome.wustl.edu 37 21 9825882 9825882 + RNA SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 21 9825882 9825882 G A SNP MIR3648 ENST00000581792 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors MIR3648 HGNC ENSG00000264462 tier1 - - 63 0 0.00 42 5 10.64 MLNR 0 genome.wustl.edu 37 13 49794627 49794627 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 13 49794627 49794627 G T SNP MLNR ENST00000218721 human ensembl 74_37 +1 known missense c.154 p.G52W 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GHS-R - no_errors MLNR HGNC ENSG00000102539 16 0 0.00 32 3 8.57 MMP16 0 genome.wustl.edu 37 8 89179938 89179938 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 89179938 89179938 G T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.669 p.D223E 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 56 0 0.00 65 4 5.80 MMP27 0 genome.wustl.edu 37 11 102562551 102562551 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 102562551 102562551 G A SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known silent c.1488 p.S496 0.127 NULL pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 tier1 - - 59 0 0.00 45 22 32.84 MNDA 0 genome.wustl.edu 37 1 158815481 158815481 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 158815481 158815481 C T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known silent c.675 p.Y225 0.017 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 44 0 0.00 53 3 5.36 MRPL32 0 genome.wustl.edu 37 7 42976978 42976978 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 42976978 42976978 G T SNP MRPL32 ENST00000223324 human ensembl 74_37 +1 known missense c.370 p.A124S 1.000 pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd - no_errors MRPL32 HGNC ENSG00000106591 tier1 - - 46 0 0.00 51 4 7.27 MUC15 0 genome.wustl.edu 37 11 26587287 26587287 + Missense_Mutation SNP T T G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 26587287 26587287 T G SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.200 p.K67T 0.002 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 tier1 - - 53 0 0.00 43 23 34.85 MUC16 0 genome.wustl.edu 37 19 9066912 9066912 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 9066912 9066912 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20534 p.T6845I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 54 0 0.00 28 27 49.09 MUC5AC 0 genome.wustl.edu 37 11 1220217 1220217 + RNA SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 1220217 1220217 C T SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.955 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 50 0 0.00 66 24 26.67 MUC6 0 genome.wustl.edu 37 11 1025310 1025310 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 1025310 1025310 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2857 p.V953M 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 33 0 0.00 37 4 9.76 MUM1L1 0 genome.wustl.edu 37 X 105451396 105451396 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 105451396 105451396 C T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known silent c.1971 p.Y657 0.278 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 39 0 0.00 39 4 9.30 MVD 0 genome.wustl.edu 37 16 88721685 88721685 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 88721685 88721685 G T SNP MVD ENST00000301012 human ensembl 74_37 -1 known silent c.819 p.P273 0.993 pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb - no_errors MVD HGNC ENSG00000167508 50 0 0.00 39 4 9.30 MYO5A 0 genome.wustl.edu 37 15 52720618 52720618 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 52720618 52720618 G T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.287 p.S96Y 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 52 0 0.00 44 3 6.38 NDST4 0 genome.wustl.edu 37 4 115997378 115997378 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 115997378 115997378 C T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.815 p.G272D 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 33 0 0.00 30 2 6.25 NEB 0 genome.wustl.edu 37 2 152468716 152468716 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 152468716 152468716 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.11789 p.A3930V 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 79 0 0.00 71 4 5.33 NETO2 0 genome.wustl.edu 37 16 47162452 47162452 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 47162452 47162452 C A SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.265 p.D89Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 15 0 0.00 20 2 9.09 NFE2L1 0 genome.wustl.edu 37 17 46133885 46133885 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 46133885 46133885 G T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known missense c.648 p.W216C 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 tier1 - - 34 0 0.00 31 4 11.43 NPVF 0 genome.wustl.edu 37 7 25266259 25266259 + Missense_Mutation SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 25266259 25266259 A T SNP NPVF ENST00000222674 human ensembl 74_37 -1 known missense c.525 p.D175E 0.000 NULL NULL - no_errors NPVF HGNC ENSG00000105954 tier1 - - 53 0 0.00 66 53 44.54 NUTM1 0 genome.wustl.edu 37 15 34649094 34649094 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 34649094 34649094 G A SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.2801 p.G934D 0.026 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 tier1 - - 20 0 0.00 21 6 22.22 NUTM1 0 genome.wustl.edu 37 15 34646055 34646055 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 34646055 34646055 G T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known nonsense c.973 p.E325* 1.000 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 43 0 0.00 32 2 5.88 OR14A2 0 genome.wustl.edu 37 1 247886507 247886507 + Missense_Mutation SNP G G C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 247886507 247886507 G C SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.839 p.P280R 0.839 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 OR14A2 HGNC ENSG00000241128 tier1 - - 43 0 0.00 43 10 18.87 OR8B3 0 genome.wustl.edu 37 11 124266927 124266927 + Silent SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 124266927 124266927 A G SNP OR8B3 ENST00000354597 human ensembl 74_37 -1 known silent c.321 p.F107 0.691 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 OR8B3 HGNC ENSG00000196661 26 0 0.00 27 2 6.90 ORAI1 0 genome.wustl.edu 37 12 122079313 122079313 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 122079313 122079313 G T SNP ORAI1 ENST00000330079 human ensembl 74_37 +1 known missense c.676 p.V226F 0.001 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI1 HGNC ENSG00000182500 tier1 - - 59 0 0.00 56 4 6.67 OTOF 0 genome.wustl.edu 37 2 26695388 26695388 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 26695388 26695388 G T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3863 p.A1288E 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 38 0 0.00 60 5 7.69 OXER1 0 genome.wustl.edu 37 2 42991002 42991002 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 42991002 42991002 G A SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known silent c.318 p.G106 0.885 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 tier1 - - 32 0 0.00 41 4 8.89 P2RY14 0 genome.wustl.edu 37 3 150931563 150931563 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 150931563 150931563 C T SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known missense c.542 p.R181Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 tier1 - - 27 0 0.00 45 6 11.76 PABPC5 0 genome.wustl.edu 37 X 90691327 90691327 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 90691327 90691327 G A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.751 p.A251T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 31 0 0.00 20 3 13.04 PADI6 0 genome.wustl.edu 37 1 17707573 17707573 + RNA SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 17707573 17707573 G A SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors PADI6 HGNC ENSG00000256049 tier1 - - 57 0 0.00 38 18 32.14 PAXIP1 0 genome.wustl.edu 37 7 154782739 154782740 + Frame_Shift_Ins INS - - A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 154782739 154782740 - A INS PAXIP1 ENST00000397192 human ensembl 74_37 -1 known frame_shift_ins c.301_300 p.G100fs 1.000:1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 37 0 0.00 40 3 6.98 PBRM1 0 genome.wustl.edu 37 3 52668638 52668638 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 52668638 52668638 G T SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known silent c.1281 p.P427 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 38 0 0.00 42 3 6.67 PCDHA4 0 genome.wustl.edu 37 5 140188667 140188667 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 140188667 140188667 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1895 p.S632N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 87 0 0.00 69 40 36.70 PCDHB2 0 genome.wustl.edu 37 5 140475366 140475366 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 140475366 140475366 G T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.992 p.G331V 0.447 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 38 0 0.00 29 3 9.38 PCLO 0 genome.wustl.edu 37 7 82583743 82583743 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 82583743 82583743 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6526 p.V2176I 0.972 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 tier1 - - 34 0 0.00 30 15 31.91 PCMTD1 0 genome.wustl.edu 37 8 52733245 52733245 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 52733245 52733245 G T SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.740 p.A247D 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 53 0 0.00 56 3 5.08 PCP4L1 0 genome.wustl.edu 37 1 161254251 161254251 + Frame_Shift_Del DEL A A - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 161254251 161254251 A - DEL PCP4L1 ENST00000504449 human ensembl 74_37 +1 known frame_shift_del c.187 p.K64fs 1.000 NULL NULL - no_errors PCP4L1 HGNC ENSG00000248485 tier1 22 0 0.00 30 2 6.25 PDE3A 0 genome.wustl.edu 37 12 20801778 20801778 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 20801778 20801778 A G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.2722 p.T908A 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 68 0 0.00 60 26 30.23 PDXDC2P 0 genome.wustl.edu 37 16 70072984 70072984 + RNA DEL T T - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 70072984 70072984 T - DEL PDXDC2P ENST00000530079 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 tier1 18 0 0.00 17 2 10.53 PDZD8 0 genome.wustl.edu 37 10 119100615 119100615 + Splice_Site SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 119100615 119100615 T C SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known splice_site c.873-2 e2-2 1.000 - - - no_errors PDZD8 HGNC ENSG00000165650 tier1 - - 74 0 0.00 62 4 6.06 PGK1 0 genome.wustl.edu 37 X 77381578 77381578 + RNA SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 77381578 77381578 A T SNP PGK1 ENST00000476531 human ensembl 74_37 +1 known rna NULL NULL 0.892 - - - no_errors PGK1 HGNC ENSG00000102144 tier1 - - 13 0 0.00 5 10 66.67 PHKA1 0 genome.wustl.edu 37 X 71800902 71800902 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 X 71800902 71800902 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.3673 p.A1225T 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 45 0 0.00 26 35 57.38 PI4KB 0 genome.wustl.edu 37 1 151265383 151265383 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 151265383 151265383 G T SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.2432 p.S811Y 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 43 0 0.00 51 3 5.56 PICK1 0 genome.wustl.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 22 38471034 38471036 GGA - DEL PICK1 ENST00000356976 human ensembl 74_37 +1 known in_frame_del c.1143_1145 p.E385in_frame_del 0.071:1.000:1.000 NULL pfam_AH_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_AH_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 tier1 19 0 0.00 24 4 14.29 PIGN 0 genome.wustl.edu 37 18 59813201 59813201 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 18 59813201 59813201 G T SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.863 p.A288D 1.000 pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 tier1 - - 66 0 0.00 52 4 7.14 PLCL1 0 genome.wustl.edu 37 2 198953678 198953678 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 198953678 198953678 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2812 p.D938Y 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 38 0 0.00 37 21 36.21 PLEKHH1 0 genome.wustl.edu 37 14 68038523 68038523 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 68038523 68038523 G A SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.1489 p.D497N 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 tier1 rs201561620 - 44 0 0.00 41 4 8.89 PNISR 0 genome.wustl.edu 37 6 99848035 99848036 + RNA INS - - A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 99848035 99848036 - A INS PNISR ENST00000481229 human ensembl 74_37 -1 known rna NULL NULL 0.988:0.986 - - - no_errors PNISR HGNC ENSG00000132424 tier1 23 0 0.00 20 2 9.09 PRB3 0 genome.wustl.edu 37 12 11421033 11421033 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 11421033 11421033 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known silent c.150 p.T50 0.005 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 77 0 0.00 78 40 33.90 PRKCB 0 genome.wustl.edu 37 16 23847536 23847536 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 23847536 23847536 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.40 p.E14K 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 17 0 0.00 12 8 40.00 PRPF39 0 genome.wustl.edu 37 14 45579751 45579751 + Splice_Site SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 45579751 45579751 G T SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known splice_site c.1304-1 e9-1 1.000 - - - no_errors PRPF39 HGNC ENSG00000185246 tier1 - - 52 0 0.00 39 4 9.30 PTBP1 0 genome.wustl.edu 37 19 806468 806468 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 806468 806468 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.1031 p.A344V 0.973 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 75 0 0.00 78 5 6.02 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 15 0 0.00 22 4 15.38 PTPN22 0 genome.wustl.edu 37 1 114414233 114414233 + Missense_Mutation SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 114414233 114414233 C G SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known missense c.13 p.E5Q 1.000 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 tier1 - - 43 0 0.00 36 9 20.00 PTPRR 0 genome.wustl.edu 37 12 71148007 71148007 + Frame_Shift_Del DEL A A - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 71148007 71148007 A - DEL PTPRR ENST00000283228 human ensembl 74_37 -1 known frame_shift_del c.702 p.L235fs 0.995 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 26 0 0.00 18 2 10.00 PVRL2 0 genome.wustl.edu 37 19 45381584 45381585 + Frame_Shift_Ins INS - - T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 45381584 45381585 - T INS PVRL2 ENST00000252485 human ensembl 74_37 +1 known frame_shift_ins c.1147_1148 p.L384fs 0.997:1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 tier1 38 0 0.00 39 15 27.78 PXDN 0 genome.wustl.edu 37 2 1653244 1653244 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 1653244 1653244 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2308 p.V770M 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 25 0 0.00 35 2 5.41 QDPR 0 genome.wustl.edu 37 4 17506070 17506070 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 17506070 17506070 C A SNP QDPR ENST00000281243 human ensembl 74_37 -1 known missense c.227 p.G76V 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 tier1 - - 60 0 0.00 42 9 17.65 RAB3GAP2 0 genome.wustl.edu 37 1 220440891 220440891 + RNA SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 220440891 220440891 G T SNP RAB3GAP2 ENST00000462353 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 49 0 0.00 54 7 11.48 RASSF7 0 genome.wustl.edu 37 11 562263 562263 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 562263 562263 G A SNP RASSF7 ENST00000414138 human ensembl 74_37 +1 known missense c.304 p.G102R 0.000 NULL NULL - no_errors RASSF7 HGNC ENSG00000099849 tier1 - - 31 0 0.00 18 19 51.35 RBBP6 0 genome.wustl.edu 37 16 24582688 24582688 + Missense_Mutation SNP T T A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 24582688 24582688 T A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.4301 p.L1434Q 0.006 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 35 0 0.00 25 9 26.47 RBM15 0 genome.wustl.edu 37 1 110883931 110883931 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 110883931 110883931 G A SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.1904 p.S635N 1.000 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 tier1 - - 25 0 0.00 13 7 35.00 RBP3 0 genome.wustl.edu 37 10 48381934 48381934 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 48381934 48381934 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.3715 p.R1239W 0.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 27 0 0.00 44 3 6.38 RCC2 0 genome.wustl.edu 37 1 17743020 17743020 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 17743020 17743020 G T SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.982 p.P328T 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 tier1 - - 42 0 0.00 60 4 6.25 RFWD2 0 genome.wustl.edu 37 1 175957539 175957539 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 175957539 175957539 G T SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known missense c.1857 p.D619E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 tier1 - - 30 0 0.00 38 4 9.52 RFX5 0 genome.wustl.edu 37 1 151314865 151314865 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 151314865 151314865 G A SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.1648 p.H550Y 0.711 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 28 0 0.00 41 4 8.89 RFX7 0 genome.wustl.edu 37 15 56395777 56395777 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 56395777 56395777 G T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.493 p.R165S 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 48 0 0.00 53 3 5.36 RGS7 0 genome.wustl.edu 37 1 241031952 241031952 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 241031952 241031952 C A SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.544 p.D182Y 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 tier1 - - 37 0 0.00 39 22 36.07 RNASEH2B 0 genome.wustl.edu 37 13 51519601 51519601 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 13 51519601 51519601 G T SNP RNASEH2B ENST00000336617 human ensembl 74_37 +1 known silent c.549 p.V183 0.021 pfam_RNase_H2_suB pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 37 0 0.00 49 3 5.77 RNPC3 0 genome.wustl.edu 37 1 104068788 104068788 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 104068788 104068788 G T SNP RNPC3 ENST00000423855 human ensembl 74_37 +1 known missense c.96 p.R32S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 - - 62 0 0.00 56 22 28.21 RUNX1T1 0 genome.wustl.edu 37 8 92983023 92983023 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 92983023 92983023 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1435 p.V479M 1.000 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 27 0 0.00 22 6 21.43 RYR3 0 genome.wustl.edu 37 15 34115234 34115234 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 34115234 34115234 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.11033 p.G3678V 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 58 0 0.00 51 4 7.27 SAFB2 0 genome.wustl.edu 37 19 5621406 5621406 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 5621406 5621406 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known missense c.188 p.A63V 0.997 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 tier1 - - 36 0 0.00 20 4 16.67 SAMD9L 0 genome.wustl.edu 37 7 92761406 92761406 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 7 92761406 92761406 G T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.3879 p.S1293R 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 27 0 0.00 46 4 8.00 SAMSN1 0 genome.wustl.edu 37 21 15882700 15882700 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 21 15882700 15882700 G A SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known silent c.492 p.F164 1.000 pfam_rSAM/SH3_domain-containing,superfamily_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 tier1 - - 35 0 0.00 33 26 44.07 SCRIB 0 genome.wustl.edu 37 8 144893398 144893398 + Missense_Mutation SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 144893398 144893398 A T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.1024 p.L342M 0.831 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 29 0 0.00 33 4 10.81 SEC14L2 0 genome.wustl.edu 37 22 30811775 30811775 + Missense_Mutation SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 22 30811775 30811775 A G SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known missense c.692 p.H231R 0.872 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L2 HGNC ENSG00000100003 tier1 - - 21 0 0.00 25 6 19.35 SEPT8 0 genome.wustl.edu 37 5 132096666 132096666 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 132096666 132096666 G T SNP SEPT8 ENST00000378719 human ensembl 74_37 -1 known missense c.1114 p.H372N 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 24 0 0.00 33 2 5.71 SH3RF2 0 genome.wustl.edu 37 5 145439666 145439666 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 145439666 145439666 G T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.1793 p.S598I 0.899 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 104 0 0.00 76 4 5.00 SIK1 0 genome.wustl.edu 37 21 44838214 44838214 + Frame_Shift_Del DEL C C - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 21 44838214 44838214 C - DEL SIK1 ENST00000270162 human ensembl 74_37 -1 known frame_shift_del c.1670 p.G557fs 0.991 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 12 0 0.00 19 2 9.52 SIRPG 0 genome.wustl.edu 37 20 1615955 1615955 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 20 1615955 1615955 C A SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.1039 p.V347F 0.001 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 tier1 - - 61 0 0.00 64 37 36.63 SKIL 0 genome.wustl.edu 37 3 170110118 170110118 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 170110118 170110118 G T SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.1968 p.Q656H 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 tier1 - - 28 0 0.00 36 10 21.74 SLC41A3 0 genome.wustl.edu 37 3 125741672 125741672 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 125741672 125741672 C T SNP SLC41A3 ENST00000315891 human ensembl 74_37 -1 known silent c.702 p.L234 0.989 pfam_SLC41_membr_dom pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 58 0 0.00 76 4 5.00 SLCO3A1 0 genome.wustl.edu 37 15 92715088 92715088 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 92715088 92715088 G A SNP SLCO3A1 ENST00000424469 human ensembl 74_37 +1 putative missense c.2075 p.S692N 1.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 47 0 0.00 28 17 37.78 SMG5 0 genome.wustl.edu 37 1 156219653 156219653 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 156219653 156219653 C T SNP SMG5 ENST00000368267 human ensembl 74_37 -1 known missense c.1001 p.S334N 0.011 NULL pfam_EST1 - no_errors SMG5 HGNC ENSG00000198952 tier1 - - 41 0 0.00 41 4 8.89 SNCG 0 genome.wustl.edu 37 10 88719881 88719881 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 88719881 88719881 G A SNP SNCG ENST00000372017 human ensembl 74_37 +1 known missense c.287 p.R96H 0.052 pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma - no_errors SNCG HGNC ENSG00000173267 tier1 - - 29 0 0.00 26 12 31.58 SNORD116-24 0 genome.wustl.edu 37 15 25339239 25339239 + RNA SNP A A T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 25339239 25339239 A T SNP SNORD116-24 ENST00000384549 human ensembl 74_37 +1 known rna NULL NULL 0.919 - - - no_errors SNORD116-24 HGNC ENSG00000207279 tier1 - - 104 0 0.00 57 46 44.66 SPATA31E1 0 genome.wustl.edu 37 9 90503680 90503680 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 90503680 90503680 G T SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known silent c.4278 p.S1426 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 38 0 0.00 25 7 21.88 SPATA33 0 genome.wustl.edu 37 16 89724680 89724680 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 89724680 89724680 C T SNP SPATA33 ENST00000579310 human ensembl 74_37 +1 known missense c.62 p.T21I 0.000 NULL NULL - no_errors SPATA33 HGNC ENSG00000167523 tier1 - - 77 0 0.00 87 25 22.32 SPATA33 0 genome.wustl.edu 37 16 89724682 89724682 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 89724682 89724682 T C SNP SPATA33 ENST00000579310 human ensembl 74_37 +1 known missense c.64 p.Y22H 0.000 NULL NULL - no_errors SPATA33 HGNC ENSG00000167523 tier1 - - 79 0 0.00 87 25 22.32 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 tier1 24 0 0.00 24 6 20.00 SUPV3L1 0 genome.wustl.edu 37 10 70968805 70968805 + RNA DEL T T - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 70968805 70968805 T - DEL SUPV3L1 ENST00000497254 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SUPV3L1 HGNC ENSG00000156502 tier1 25 0 0.00 34 4 10.53 SWI5 0 genome.wustl.edu 37 9 131037732 131037732 + Silent SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 9 131037732 131037732 C A SNP SWI5 ENST00000495313 human ensembl 74_37 +1 putative silent c.46 p.R16 0.005 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 tier1 - - 83 0 0.00 96 38 28.36 SYNE2 0 genome.wustl.edu 37 14 64634074 64634074 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 64634074 64634074 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.16729 p.R5577W 0.966 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 57 0 0.00 50 3 5.66 SYNJ2 0 genome.wustl.edu 37 6 158487571 158487571 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 158487571 158487571 G T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known nonsense c.1621 p.G541* 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc 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 74 0 0.00 76 5 6.17 TACR3 0 genome.wustl.edu 37 4 104579403 104579403 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 104579403 104579403 G T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.706 p.Q236K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_NK1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 tier1 - - 70 0 0.00 74 5 6.33 TAGAP 0 genome.wustl.edu 37 6 159457254 159457254 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 6 159457254 159457254 G T SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.1801 p.Q601K 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 17 0 0.00 24 4 14.29 TAS2R8 0 genome.wustl.edu 37 12 10959369 10959369 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 10959369 10959369 G T SNP TAS2R8 ENST00000240615 human ensembl 74_37 -1 known missense c.211 p.L71M 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 28 0 0.00 49 3 5.77 TBC1D23 0 genome.wustl.edu 37 3 100029351 100029351 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 3 100029351 100029351 C T SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known silent c.1518 p.I506 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 - - 45 0 0.00 62 16 20.51 TCF7L2 0 genome.wustl.edu 37 10 114911604 114911604 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 114911604 114911604 G A SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known silent c.1122 p.L374 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 53 0 0.00 60 4 6.25 TEX9 0 genome.wustl.edu 37 15 56720604 56720604 + Nonsense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 56720604 56720604 G T SNP TEX9 ENST00000352903 human ensembl 74_37 +1 known nonsense c.1138 p.E380* 1.000 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 20 0 0.00 30 2 6.25 TGM7 0 genome.wustl.edu 37 15 43568766 43568766 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 15 43568766 43568766 G T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.2020 p.L674I 0.886 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 45 0 0.00 33 2 5.71 TMBIM4 0 genome.wustl.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 66531936 66531937 - A INS TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_ins c.521_520 p.Y174fs 0.856:0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 tier1 53 0 0.00 44 4 8.33 TMEM67 0 genome.wustl.edu 37 8 94777867 94777867 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 94777867 94777867 G T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.644 p.G215V 1.000 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 67 0 0.00 64 4 5.88 TNFRSF10D 0 genome.wustl.edu 37 8 23006036 23006036 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 23006036 23006036 G A SNP TNFRSF10D ENST00000312584 human ensembl 74_37 -1 known silent c.285 p.A95 0.000 prints_TNFR_10 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 tier1 - - 69 0 0.00 38 23 37.10 TOP3A 0 genome.wustl.edu 37 17 18202892 18202892 + Missense_Mutation SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 18202892 18202892 G A SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known missense c.971 p.P324L 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 tier1 - - 69 0 0.00 22 23 51.11 TP53 0 genome.wustl.edu 37 17 7578291 7578291 + Splice_Site SNP T T A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 7578291 7578291 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.560-2 e5-2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 54 0 0.00 28 22 44.00 TRIOBP 0 genome.wustl.edu 37 22 38130534 38130534 + Silent SNP G G A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 22 38130534 38130534 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.4191 p.R1397 0.597 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 66 0 0.00 79 23 22.55 TRMT1L 0 genome.wustl.edu 37 1 185108677 185108677 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 185108677 185108677 G T SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.1144 p.L382I 1.000 pfam_TRM1 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 tier1 - - 41 0 0.00 60 4 6.25 TTN 0 genome.wustl.edu 37 2 179464488 179464488 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 179464488 179464488 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48436 p.P16146T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 30 0 0.00 49 3 5.77 TTN 0 genome.wustl.edu 37 2 179474466 179474466 + Silent SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 2 179474466 179474466 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.43980 p.A14660 0.107 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 33 0 0.00 42 4 8.70 TUBG2 0 genome.wustl.edu 37 17 40818726 40818726 + Missense_Mutation SNP G G C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 17 40818726 40818726 G C SNP TUBG2 ENST00000251412 human ensembl 74_37 +1 known missense c.1264 p.D422H 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 tier1 - - 78 0 0.00 47 25 34.72 TXNRD1 0 genome.wustl.edu 37 12 104715025 104715025 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 104715025 104715025 G T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1146 p.M382I 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 67 0 0.00 66 4 5.71 UBQLN4 0 genome.wustl.edu 37 1 156020165 156020165 + Missense_Mutation SNP T T A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 156020165 156020165 T A SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.658 p.M220L 1.000 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 tier1 - - 52 0 0.00 25 14 35.90 UGT3A1 0 genome.wustl.edu 37 5 35965642 35965642 + Frame_Shift_Del DEL G G - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 5 35965642 35965642 G 0 DEL UGT3A1 ENST00000274278 human ensembl 74_37 -1 known frame_shift_del c.689 p.P230fs 0.584 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 88 0 0.00 123 12 8.89 UNC13A 0 genome.wustl.edu 37 19 17766135 17766135 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 17766135 17766135 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.1604 p.A535D 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 39 0 0.00 34 14 29.17 UNC13A 0 genome.wustl.edu 37 19 17766136 17766136 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 17766136 17766136 C A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.1603 p.A535S 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 39 0 0.00 32 14 30.43 USH1C 0 genome.wustl.edu 37 11 17531023 17531023 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 11 17531023 17531023 G T SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1893 p.S631R 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 tier1 - - 42 0 0.00 62 5 7.46 VPS13D 0 genome.wustl.edu 37 1 12416003 12416003 + Frame_Shift_Del DEL C C - TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 12416003 12416003 C - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.9727 p.P3243fs 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 tier1 41 0 0.00 48 16 25.00 VWA3A 0 genome.wustl.edu 37 16 22128497 22128497 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 22128497 22128497 G T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.990 p.E330D 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 42 0 0.00 55 4 6.78 WDFY4 0 genome.wustl.edu 37 10 50174670 50174670 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 10 50174670 50174670 T C SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.8536 p.F2846L 0.965 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 54 0 0.00 47 4 7.84 WDR18 0 genome.wustl.edu 37 19 991108 991108 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 991108 991108 C A SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.769 p.P257T 0.821 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR18 HGNC ENSG00000065268 tier1 - - 57 0 0.00 37 31 45.59 WNK1 0 genome.wustl.edu 37 12 994860 994860 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 994860 994860 G T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.6384 p.Q2128H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 43 0 0.00 74 4 5.13 XPO6 0 genome.wustl.edu 37 16 28128767 28128767 + Missense_Mutation SNP C C A TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 16 28128767 28128767 C A SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.1876 p.A626S 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 tier1 - - 26 0 0.00 19 8 29.63 XRCC1 0 genome.wustl.edu 37 19 44055806 44055806 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 44055806 44055806 C T SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known silent c.1116 p.Q372 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 tier1 - - 53 0 0.00 51 22 30.14 ZBTB40 0 genome.wustl.edu 37 1 22816927 22816927 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 1 22816927 22816927 G T SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.486 p.E162D 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 30 0 0.00 37 4 9.76 ZC3H10 0 genome.wustl.edu 37 12 56515545 56515545 + Missense_Mutation SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 56515545 56515545 C T SNP ZC3H10 ENST00000257940 human ensembl 74_37 +1 known missense c.1199 p.S400L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 tier1 - - 18 0 0.00 6 13 68.42 ZDHHC17 0 genome.wustl.edu 37 12 77239524 77239524 + Silent SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 12 77239524 77239524 G T SNP ZDHHC17 ENST00000334822 human ensembl 74_37 +1 known silent c.1365 p.V455 0.965 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase 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,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ENSG00000186908 tier1 - - 66 0 0.00 33 4 10.81 ZFHX2 0 genome.wustl.edu 37 14 23992792 23992792 + Missense_Mutation SNP T T C TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 14 23992792 23992792 T C SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.6359 p.E2120G 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 15 0 0.00 10 15 60.00 ZFP64 0 genome.wustl.edu 37 20 50701424 50701424 + Missense_Mutation SNP C C G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 20 50701424 50701424 C G SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1610 p.S537T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 25 0 0.00 23 13 36.11 ZNF480 0 genome.wustl.edu 37 19 52825798 52825798 + Missense_Mutation SNP G G T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 19 52825798 52825798 G T SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.1295 p.C432F 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 ZNF480 HGNC ENSG00000198464 tier1 - - 52 0 0.00 62 4 6.06 ZNF595 0 genome.wustl.edu 37 4 53273 53273 + RNA SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 4 53273 53273 C T SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 220 0 0.00 251 21 7.69 ZNF623 0 genome.wustl.edu 37 8 144733440 144733440 + Silent SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba 8f6eec0f-94ae-4e36-8f6f-b912a0c0d428 8 144733440 144733440 A G SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known silent c.1398 p.K466 0.983 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 tier1 - - 39 0 0.00 18 9 33.33