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 A1BG 1 genome.wustl.edu 37 19 58864353 58864353 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 58864353 58864353 C T SNP A1BG ENST00000263100 human ensembl 70_37 -1 known missense c.281 p.R94H 0.503 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors A1BG HGNC AAK1 22848 genome.wustl.edu 37 2 69754432 69754432 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 69754432 69754432 G A SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known silent c.891 p.D297 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors AAK1 HGNC ABR 29 genome.wustl.edu 37 17 953339 953339 + Missense_Mutation SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 953339 953339 T G SNP ABR ENST00000302538 human ensembl 70_37 -1 known missense c.1742 p.K581T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ACP6 51205 genome.wustl.edu 37 1 147120085 147120085 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 147120085 147120085 G A SNP ACP6 ENST00000369238 human ensembl 70_37 -1 known missense c.1106 p.S369F 0.997 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP6 HGNC ACVR1C 130399 genome.wustl.edu 37 2 158412762 158412762 + Silent SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 158412762 158412762 C G SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known silent c.387 p.A129 0.519 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1C HGNC ADAM29 11086 genome.wustl.edu 37 4 175896932 175896932 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 175896932 175896932 C T SNP ADAM29 ENST00000359240 human ensembl 70_37 +1 known nonsense c.256 p.Q86* 0.975 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18777507 18777507 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 18777507 18777507 G A SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel missense c.3280 p.D1094N 0.989 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150525407 150525407 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 150525407 150525407 G A SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.112 p.E38K 0.107 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ASPM 259266 genome.wustl.edu 37 1 197059457 197059457 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 197059457 197059457 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.9698 p.R3233Q 0.912 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ATG7 10533 genome.wustl.edu 37 3 11372813 11372813 + Splice_Site SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 11372813 11372813 G A SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known splice_site c.679-1 e7-1 1.000 - - - no_errors ATG7 HGNC ATP2B4 493 genome.wustl.edu 37 1 203672793 203672793 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 203672793 203672793 C T SNP ATP2B4 ENST00000357681 human ensembl 70_37 +1 known silent c.951 p.D317 0.997 pfam_ATPase_P-typ_ATPase-assoc-dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC BRCA2 675 genome.wustl.edu 37 13 32912060 32912060 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 13 32912060 32912060 C T SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known missense c.3568 p.R1190W 0.293 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC C17orf53 78995 genome.wustl.edu 37 17 42222620 42222620 + Missense_Mutation SNP A A C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 42222620 42222620 A C SNP C17orf53 ENST00000319977 human ensembl 70_37 +1 known missense c.53 p.E18A 1.000 NULL NULL - no_errors C17orf53 HGNC C7orf63 79846 genome.wustl.edu 37 7 89917563 89917563 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 89917563 89917563 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known missense c.1672 p.E558K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC CACNA1H 8912 genome.wustl.edu 37 16 1254308 1254309 + Frame_Shift_Ins INS - - G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 1254308 1254309 - G INS CACNA1H ENST00000348261 human ensembl 70_37 +1 known frame_shift_ins c.2301_2302 p.A767fs 0.000:0.004 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CARNS1 57571 genome.wustl.edu 37 11 67186395 67186395 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 67186395 67186395 G T SNP CARNS1 ENST00000445895 human ensembl 70_37 +1 known missense c.533 p.G178V 0.904 NULL superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC CCDC114 93233 genome.wustl.edu 37 19 48800516 48800516 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 48800516 48800516 G A SNP CCDC114 ENST00000315396 human ensembl 70_37 -1 known missense c.1730 p.T577M 0.004 NULL NULL - no_errors CCDC114 HGNC CCDC73 493860 genome.wustl.edu 37 11 32636423 32636423 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 32636423 32636423 G C SNP CCDC73 ENST00000335185 human ensembl 70_37 -1 known missense c.1441 p.Q481E 0.822 NULL NULL - no_errors CCDC73 HGNC CDC42EP4 23580 genome.wustl.edu 37 17 71282208 71282208 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 71282208 71282208 C T SNP CDC42EP4 ENST00000335793 human ensembl 70_37 -1 known silent c.432 p.V144 0.883 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC CDC42EP4 23580 genome.wustl.edu 37 17 71282253 71282253 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 71282253 71282253 C G SNP CDC42EP4 ENST00000335793 human ensembl 70_37 -1 known missense c.387 p.E129D 0.724 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP4 HGNC CDH12 1010 genome.wustl.edu 37 5 21975288 21975288 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 21975288 21975288 G C SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known missense c.438 p.F146L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC CDK10 8558 genome.wustl.edu 37 16 89757024 89757026 + In_Frame_Del DEL AGA AGA - TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 89757024 89757026 AGA - DEL CDK10 ENST00000353379 human ensembl 70_37 +1 known in_frame_del c.224_226 p.K76in_frame_del 1.000:1.000:1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK10 HGNC CELSR2 1952 genome.wustl.edu 37 1 109801411 109801411 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 109801411 109801411 G A SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.3668 p.R1223H 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CHD6 84181 genome.wustl.edu 37 20 40192757 40192757 + Missense_Mutation SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 20 40192757 40192757 T C SNP CHD6 ENST00000373222 human ensembl 70_37 -1 known missense c.31 p.T11A 0.003 NULL NULL - no_errors CHD6 HGNC CKMT2 1160 genome.wustl.edu 37 5 80554979 80554979 + Nonsense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 80554979 80554979 G A SNP CKMT2 ENST00000254035 human ensembl 70_37 +1 known nonsense c.920 p.W307* 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC CNTN1 1272 genome.wustl.edu 37 12 41337930 41337930 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 41337930 41337930 C T SNP CNTN1 ENST00000347616 human ensembl 70_37 +1 known silent c.1641 p.I547 0.296 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC COQ3 51805 genome.wustl.edu 37 6 99817559 99817559 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 6 99817559 99817559 C T SNP COQ3 ENST00000254759 human ensembl 70_37 -1 known missense c.1027 p.E343K 0.407 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC CPSF7 79869 genome.wustl.edu 37 11 61178432 61178432 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 61178432 61178432 G A SNP CPSF7 ENST00000340437 human ensembl 70_37 -1 known missense c.1528 p.R510W 0.968 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC CPXCR1 53336 genome.wustl.edu 37 X 88008861 88008861 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 88008861 88008861 G A SNP CPXCR1 ENST00000276127 human ensembl 70_37 +1 known missense c.446 p.R149K 0.072 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC CUX1 1523 genome.wustl.edu 37 7 101844947 101844947 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 101844947 101844947 C T SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known silent c.2403 p.D801 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CWF19L1 55280 genome.wustl.edu 37 10 101996654 101996654 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 101996654 101996654 G T SNP CWF19L1 ENST00000354105 human ensembl 70_37 -1 known missense c.1327 p.Q443K 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC CWH43 80157 genome.wustl.edu 37 4 49040097 49040097 + Missense_Mutation SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 49040097 49040097 T G SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known missense c.1703 p.L568R 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC DDX42 11325 genome.wustl.edu 37 17 61888467 61888467 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 61888467 61888467 G C SNP DDX42 ENST00000389924 human ensembl 70_37 +1 known missense c.1332 p.K444N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC DNAJC5 80331 genome.wustl.edu 37 20 62559804 62559804 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 20 62559804 62559804 C T SNP DNAJC5 ENST00000360864 human ensembl 70_37 +1 known missense c.106 p.R36W 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5 HGNC EIF2B4 8890 genome.wustl.edu 37 2 27592363 27592363 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 27592363 27592363 C G SNP EIF2B4 ENST00000347454 human ensembl 70_37 -1 known missense c.129 p.K43N 1.000 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC EIF3D 8664 genome.wustl.edu 37 22 36915583 36915583 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 22 36915583 36915583 C G SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.580 p.E194Q 0.366 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ELK3 2004 genome.wustl.edu 37 12 96641178 96641178 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 96641178 96641178 C G SNP ELK3 ENST00000228741 human ensembl 70_37 +1 known missense c.668 p.S223C 1.000 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELK3 HGNC ENSG00000245482 0 genome.wustl.edu 37 12 34176752 34176752 + RNA SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 34176752 34176752 C G SNP ENSG00000245482 ENST00000501954 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-847H18.2 Clone_based_vega_gene EPAS1 2034 genome.wustl.edu 37 2 46597010 46597010 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 46597010 46597010 G A SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.824 p.R275H 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC ERP27 121506 genome.wustl.edu 37 12 15090933 15090933 + Missense_Mutation SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 15090933 15090933 T C SNP ERP27 ENST00000266397 human ensembl 70_37 -1 known missense c.148 p.M50V 0.701 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC FAM154B 283726 genome.wustl.edu 37 15 82564165 82564165 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 82564165 82564165 G A SNP FAM154B ENST00000565432 human ensembl 70_37 +1 putative silent c.314 p.*105 0.000 NULL NULL - no_errors FAM154B HGNC FAM71B 153745 genome.wustl.edu 37 5 156590578 156590578 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 156590578 156590578 C G SNP FAM71B ENST00000302938 human ensembl 70_37 -1 known missense c.698 p.G233A 0.955 NULL pfam_DUF3699 - no_errors FAM71B HGNC FAM86B1 85002 genome.wustl.edu 37 8 12041095 12041095 + RNA SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 8 12041095 12041095 T G SNP FAM86B1 ENST00000524484 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM86B1 HGNC FBN1 2200 genome.wustl.edu 37 15 48736764 48736764 + Missense_Mutation SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 48736764 48736764 T C SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.6011 p.Y2004C 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FBN1 2200 genome.wustl.edu 37 15 48826336 48826336 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 48826336 48826336 G A SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.803 p.S268F 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FOSL2 2355 genome.wustl.edu 37 2 28635065 28635065 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 28635065 28635065 C G SNP FOSL2 ENST00000264716 human ensembl 70_37 +1 known missense c.731 p.S244C 0.999 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC FOSL2 2355 genome.wustl.edu 37 2 28635081 28635081 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 28635081 28635081 C T SNP FOSL2 ENST00000264716 human ensembl 70_37 +1 known silent c.747 p.I249 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC FREM1 158326 genome.wustl.edu 37 9 14750127 14750127 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 14750127 14750127 C G SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known missense c.5558 p.G1853A 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC GBP1 2633 genome.wustl.edu 37 1 89521614 89521614 + RNA SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 89521614 89521614 C T SNP GBP1 ENST00000495131 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GBP1 HGNC GLIS2 84662 genome.wustl.edu 37 16 4385082 4385082 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 4385082 4385082 C T SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known silent c.544 p.L182 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLRA2 2742 genome.wustl.edu 37 X 14748344 14748344 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 14748344 14748344 C T SNP GLRA2 ENST00000218075 human ensembl 70_37 +1 known missense c.1096 p.R366C 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A2,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC GPR158 57512 genome.wustl.edu 37 10 25464455 25464455 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 25464455 25464455 C T SNP GPR158 ENST00000376351 human ensembl 70_37 +1 known nonsense c.106 p.R36* 0.042 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC GRIA3 2892 genome.wustl.edu 37 X 122551678 122551678 + Nonsense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 122551678 122551678 C G SNP GRIA3 ENST00000541091 human ensembl 70_37 +1 known nonsense c.1878 p.Y626* 0.049 smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd - no_errors GRIA3 HGNC GRN 2896 genome.wustl.edu 37 17 42429607 42429607 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 42429607 42429607 G C SNP GRN ENST00000053867 human ensembl 70_37 +1 known missense c.1404 p.Q468H 0.977 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC HERC6 55008 genome.wustl.edu 37 4 89326036 89326036 + Silent SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 89326036 89326036 T C SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known silent c.1101 p.S367 0.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC HSPB8 26353 genome.wustl.edu 37 12 119617367 119617367 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 119617367 119617367 G A SNP HSPB8 ENST00000281938 human ensembl 70_37 +1 known missense c.250 p.E84K 0.944 superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB8 HGNC HTR3A 3359 genome.wustl.edu 37 11 113848497 113848497 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 113848497 113848497 G A SNP HTR3A ENST00000355556 human ensembl 70_37 +1 known silent c.90 p.R30 0.001 tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC IFNGR2 3460 genome.wustl.edu 37 21 34804527 34804528 + Frame_Shift_Ins INS - - AA TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 21 34804527 34804528 - AA INS IFNGR2 ENST00000290219 human ensembl 70_37 +1 known frame_shift_ins c.605_606 p.P204fs 0.004:0.000 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IFNGR2 HGNC IL9R 3581 genome.wustl.edu 37 X 155231085 155231085 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 155231085 155231085 G A SNP IL9R ENST00000369423 human ensembl 70_37 +1 known silent c.57 p.K19 0.004 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC IL9R 3581 genome.wustl.edu 37 X 155239720 155239720 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 155239720 155239720 G A SNP IL9R ENST00000244174 human ensembl 70_37 +1 known silent c.1212 p.T404 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC INTS3 65123 genome.wustl.edu 37 1 153745111 153745111 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 153745111 153745111 C T SNP INTS3 ENST00000456435 human ensembl 70_37 +1 known silent c.2398 p.L800 0.343 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC INTU 27152 genome.wustl.edu 37 4 128626914 128626914 + Missense_Mutation SNP A A G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 128626914 128626914 A G SNP INTU ENST00000335251 human ensembl 70_37 +1 known missense c.1735 p.T579A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC KCNC4 3749 genome.wustl.edu 37 1 110766382 110766382 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 110766382 110766382 G A SNP KCNC4 ENST00000369787 human ensembl 70_37 +1 known missense c.1475 p.R492Q 0.993 prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC KLHL4 56062 genome.wustl.edu 37 X 86868950 86868950 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 86868950 86868950 G A SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.493 p.A165T 1.000 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KPNA2 3838 genome.wustl.edu 37 17 66039427 66039427 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 66039427 66039427 G T SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known missense c.878 p.G293V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC KRT35 3886 genome.wustl.edu 37 17 39633831 39633831 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 39633831 39633831 G A SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known missense c.1159 p.R387W 0.880 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC LAIR1 3903 genome.wustl.edu 37 19 54872754 54872754 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 54872754 54872754 C G SNP LAIR1 ENST00000391742 human ensembl 70_37 -1 known missense c.133 p.V45L 0.053 smart_Ig_sub smart_Ig_sub - no_errors LAIR1 HGNC LENG9 94059 genome.wustl.edu 37 19 54974291 54974291 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 54974291 54974291 G C SNP LENG9 ENST00000333834 human ensembl 70_37 -1 known missense c.485 p.S162W 1.000 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC LLPH 84298 genome.wustl.edu 37 12 66517664 66517664 + Missense_Mutation SNP T T G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 66517664 66517664 T G SNP LLPH ENST00000266604 human ensembl 70_37 -1 known missense c.346 p.S116R 0.785 pfam_LAPS18-like pfam_LAPS18-like - no_errors LLPH HGNC LPIN3 64900 genome.wustl.edu 37 20 39987182 39987182 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 20 39987182 39987182 C T SNP LPIN3 ENST00000373257 human ensembl 70_37 +1 known missense c.2411 p.T804M 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC LRIT3 345193 genome.wustl.edu 37 4 110791137 110791137 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 110791137 110791137 C T SNP LRIT3 ENST00000594814 human ensembl 70_37 +1 known missense c.1232 p.S411F 0.324 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT3 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19482436 19482436 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 19482436 19482436 G T SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.614 p.A205D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135326895 135326895 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 135326895 135326895 G C SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.259 p.Q87E 0.821 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC MFSD6 54842 genome.wustl.edu 37 2 191301315 191301315 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 191301315 191301315 C G SNP MFSD6 ENST00000281416 human ensembl 70_37 +1 known missense c.560 p.S187C 0.107 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC KMT2C 58508 genome.wustl.edu 37 7 151970952 151970952 + Nonsense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 151970952 151970952 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.850 p.R284* 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MST1R 4486 genome.wustl.edu 37 3 49933981 49933981 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 49933981 49933981 C T SNP MST1R ENST00000296474 human ensembl 70_37 -1 known missense c.2431 p.E811K 0.350 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pirsf_Tyr_kinase_HGF/MSP_rcpt pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST1R HGNC MYADML 151325 genome.wustl.edu 37 2 33952630 33952630 + RNA SNP A A G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 33952630 33952630 A G SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MYADML HGNC MYF5 4617 genome.wustl.edu 37 12 81112734 81112734 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 12 81112734 81112734 C T SNP MYF5 ENST00000228644 human ensembl 70_37 +1 known silent c.672 p.L224 0.989 NULL pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF5 HGNC MYH15 22989 genome.wustl.edu 37 3 108195277 108195277 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 108195277 108195277 G A SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known silent c.1260 p.N420 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC NEB 4703 genome.wustl.edu 37 2 152476025 152476025 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 152476025 152476025 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.10812 p.I3604 0.839 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,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 NLRP5 126206 genome.wustl.edu 37 19 56538828 56538828 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 56538828 56538828 G C SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known missense c.1229 p.R410T 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC NPVF 64111 genome.wustl.edu 37 7 25266507 25266507 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 25266507 25266507 C A SNP NPVF ENST00000222674 human ensembl 70_37 -1 known missense c.277 p.G93W 1.000 NULL NULL - no_errors NPVF HGNC NRIP1 8204 genome.wustl.edu 37 21 16338529 16338529 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 21 16338529 16338529 G A SNP NRIP1 ENST00000318948 human ensembl 70_37 -1 known missense c.1985 p.P662L 0.963 NULL NULL - no_errors NRIP1 HGNC NSUN7 79730 genome.wustl.edu 37 4 40752791 40752791 + Silent SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 40752791 40752791 G C SNP NSUN7 ENST00000381782 human ensembl 70_37 +1 known silent c.81 p.L27 0.010 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC NXNL1 115861 genome.wustl.edu 37 19 17566593 17566593 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 17566593 17566593 C T SNP NXNL1 ENST00000301944 human ensembl 70_37 -1 known missense c.502 p.D168N 1.000 NULL superfamily_Thioredoxin-like_fold - no_errors NXNL1 HGNC OR11A1 26531 genome.wustl.edu 37 6 29395167 29395167 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 6 29395167 29395167 C T SNP OR11A1 ENST00000377147 human ensembl 70_37 -1 known silent c.252 p.L84 0.023 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR11A1 HGNC OR6K3 391114 genome.wustl.edu 37 1 158687406 158687406 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 158687406 158687406 G A SNP OR6K3 ENST00000368146 human ensembl 70_37 -1 known missense c.548 p.P183L 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC OR8U1 219417 genome.wustl.edu 37 11 56143745 56143745 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 56143745 56143745 G A SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.646 p.V216I 0.004 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 OR8U1 HGNC PAK3 5063 genome.wustl.edu 37 X 110406215 110406215 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 110406215 110406215 G C SNP PAK3 ENST00000360648 human ensembl 70_37 +1 known missense c.649 p.E217Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK3 HGNC PCDH15 65217 genome.wustl.edu 37 10 56138561 56138561 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 56138561 56138561 C T SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.299 p.G100E 1.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDHGB2 56103 genome.wustl.edu 37 5 140741175 140741175 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741175 140741175 C G SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known missense c.1473 p.I491M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC PCDHGB2 56103 genome.wustl.edu 37 5 140741440 140741440 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741440 140741440 C G SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known missense c.1738 p.R580G 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC PCDHGB2 56103 genome.wustl.edu 37 5 140741819 140741819 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741819 140741819 C T SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known missense c.2117 p.A706V 0.034 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC PCDHGB2 56103 genome.wustl.edu 37 5 140741884 140741884 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 140741884 140741884 C T SNP PCDHGB2 ENST00000522605 human ensembl 70_37 +1 known nonsense c.2182 p.Q728* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144864276 144864276 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 144864276 144864276 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.5819 p.R1940Q 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDGFC 56034 genome.wustl.edu 37 4 157688963 157688963 + Nonsense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 157688963 157688963 G A SNP PDGFC ENST00000502773 human ensembl 70_37 -1 known nonsense c.883 p.Q295* 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_CUB,pfam_PD_growth_factor,superfamily_CUB,smart_CUB,smart_PD_growth_factor,pfscan_CUB,pfscan_PD_growth_factor - no_errors PDGFC HGNC PHF3 23469 genome.wustl.edu 37 6 64422276 64422276 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 6 64422276 64422276 C T SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known nonsense c.4792 p.Q1598* 0.054 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC PHKA1 5255 genome.wustl.edu 37 X 71825423 71825423 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c X 71825423 71825423 C T SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known missense c.2653 p.E885K 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC PIDD 55367 genome.wustl.edu 37 11 800182 800182 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 800182 800182 C T SNP PIDD ENST00000347755 human ensembl 70_37 -1 known silent c.2223 p.Q741 1.000 NULL pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC PIK3C2B 5287 genome.wustl.edu 37 1 204403616 204403616 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 204403616 204403616 C G SNP PIK3C2B ENST00000367187 human ensembl 70_37 -1 known missense c.3637 p.D1213H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC PIK3C3 5289 genome.wustl.edu 37 18 39550410 39550410 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 39550410 39550410 G A SNP PIK3C3 ENST00000262039 human ensembl 70_37 +1 known missense c.521 p.R174H 1.000 pfam_PI3K_C2_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC PMM2 5373 genome.wustl.edu 37 16 8906893 8906893 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 8906893 8906893 G A SNP PMM2 ENST00000268261 human ensembl 70_37 +1 known missense c.569 p.R190K 0.992 pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM2 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7619550 7619550 + Nonsense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 7619550 7619550 C T SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known nonsense c.2605 p.R869* 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC PPP4R1 9989 genome.wustl.edu 37 18 9570273 9570273 + Silent SNP T T C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 9570273 9570273 T C SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known silent c.1455 p.P485 0.143 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC PRRC2B 84726 genome.wustl.edu 37 9 134362661 134362661 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 134362661 134362661 C T SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known silent c.5964 p.F1988 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PSMA8 143471 genome.wustl.edu 37 18 23758844 23758844 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 23758844 23758844 G C SNP PSMA8 ENST00000308268 human ensembl 70_37 +1 known missense c.546 p.K182N 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC REPIN1 29803 genome.wustl.edu 37 7 150069177 150069177 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 7 150069177 150069177 C T SNP REPIN1 ENST00000489432 human ensembl 70_37 +1 known missense c.1018 p.R340W 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC RNF149 284996 genome.wustl.edu 37 2 101905451 101905453 + In_Frame_Del DEL TAA TAA - TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 TAA TAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 101905451 101905453 TAA - DEL RNF149 ENST00000295317 human ensembl 70_37 -1 known in_frame_del c.847_845 p.I282in_frame_del 0.999:0.991:1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ROBO1 6091 genome.wustl.edu 37 3 78734954 78734954 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 78734954 78734954 G A SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known silent c.1284 p.C428 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC RP1L1 94137 genome.wustl.edu 37 8 10480214 10480214 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 8 10480214 10480214 C T SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known silent c.498 p.Q166 0.180 superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RRH 10692 genome.wustl.edu 37 4 110765315 110765315 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 110765315 110765315 G C SNP RRH ENST00000317735 human ensembl 70_37 +1 known missense c.976 p.D326H 0.970 prints_Peropsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC SCCPDH 51097 genome.wustl.edu 37 1 246927547 246927547 + Splice_Site SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 246927547 246927547 G A SNP SCCPDH ENST00000366510 human ensembl 70_37 +1 known splice_site c.991-1 e10-1 1.000 - - - no_errors SCCPDH HGNC SLC16A5 9121 genome.wustl.edu 37 17 73096514 73096514 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 73096514 73096514 C G SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known missense c.756 p.F252L 0.333 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC SLC16A5 9121 genome.wustl.edu 37 17 73096595 73096595 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 73096595 73096595 C G SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known missense c.837 p.I279M 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC SLC9A1 6548 genome.wustl.edu 37 1 27426904 27426904 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 1 27426904 27426904 G A SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known missense c.2342 p.A781V 0.002 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC SMG6 23293 genome.wustl.edu 37 17 1964759 1964760 + RNA INS - - G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 1964759 1964760 - G INS SMG6 ENST00000570756 human ensembl 70_37 -1 known rna NULL NULL 0.024:0.027 - - - no_errors SMG6 HGNC SRSF1 6426 genome.wustl.edu 37 17 56084341 56084341 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 56084341 56084341 C T SNP SRSF1 ENST00000258962 human ensembl 70_37 -1 known missense c.158 p.G53E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC SSBP2 23635 genome.wustl.edu 37 5 80736439 80736439 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 5 80736439 80736439 C A SNP SSBP2 ENST00000320672 human ensembl 70_37 -1 known missense c.866 p.G289V 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC SUMO1 7341 genome.wustl.edu 37 2 203079157 203079157 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 203079157 203079157 C G SNP SUMO1 ENST00000392245 human ensembl 70_37 -1 known missense c.88 p.D30H 1.000 pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors SUMO1 HGNC TADA2A 6871 genome.wustl.edu 37 17 35830526 35830526 + Silent SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 35830526 35830526 C G SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known silent c.918 p.L306 0.811 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC TET3 200424 genome.wustl.edu 37 2 74320665 74320665 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 74320665 74320665 G A SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.2734 p.E912K 1.000 NULL NULL - no_errors TET3 HGNC TEX2 55852 genome.wustl.edu 37 17 62291274 62291274 + Missense_Mutation SNP G G C TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 17 62291274 62291274 G C SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.304 p.Q102E 0.908 NULL pfam_DUF2404 - no_errors TEX2 HGNC TMEM131 23505 genome.wustl.edu 37 2 98409038 98409038 + Missense_Mutation SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 98409038 98409038 C G SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.3955 p.E1319Q 0.036 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC TMTC4 84899 genome.wustl.edu 37 13 101257341 101257341 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 13 101257341 101257341 G A SNP TMTC4 ENST00000342624 human ensembl 70_37 -1 known silent c.2190 p.I730 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC TMX3 54495 genome.wustl.edu 37 18 66344338 66344338 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 18 66344338 66344338 G A SNP TMX3 ENST00000299608 human ensembl 70_37 -1 known silent c.1197 p.A399 0.132 NULL pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC TSGA10 80705 genome.wustl.edu 37 2 99688285 99688285 + Missense_Mutation SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 99688285 99688285 G A SNP TSGA10 ENST00000355053 human ensembl 70_37 -1 known missense c.991 p.R331W 0.669 NULL NULL - no_errors TSGA10 HGNC TUBB8 347688 genome.wustl.edu 37 10 93876 93876 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 10 93876 93876 G A SNP TUBB8 ENST00000328974 human ensembl 70_37 -1 known silent c.456 p.L152 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC TYR 7299 genome.wustl.edu 37 11 88911391 88911391 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 11 88911391 88911391 G A SNP TYR ENST00000263321 human ensembl 70_37 +1 known silent c.270 p.Q90 0.968 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC VPS13B 157680 genome.wustl.edu 37 8 100155380 100155380 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 8 100155380 100155380 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known silent c.1830 p.S610 0.126 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC WDR12 55759 genome.wustl.edu 37 2 203748344 203748344 + Missense_Mutation SNP C C A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 2 203748344 203748344 C A SNP WDR12 ENST00000261015 human ensembl 70_37 -1 known missense c.1109 p.W370L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR12 HGNC WDR19 57728 genome.wustl.edu 37 4 39246134 39246134 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 4 39246134 39246134 C T SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known silent c.2607 p.Y869 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ZNF148 7707 genome.wustl.edu 37 3 124951901 124951901 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 3 124951901 124951901 C T SNP ZNF148 ENST00000360647 human ensembl 70_37 -1 known missense c.1669 p.E557K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ZNF462 58499 genome.wustl.edu 37 9 109690314 109690314 + Missense_Mutation SNP G G T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 9 109690314 109690314 G T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.4121 p.C1374F 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF573 126231 genome.wustl.edu 37 19 38229812 38229812 + Missense_Mutation SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 19 38229812 38229812 C T SNP ZNF573 ENST00000590414 human ensembl 70_37 -1 known missense c.1579 p.E527K 0.339 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 ZNF573 HGNC ZNF770 54989 genome.wustl.edu 37 15 35274379 35274379 + Silent SNP C C T TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 15 35274379 35274379 C T SNP ZNF770 ENST00000356321 human ensembl 70_37 -1 known silent c.1257 p.L419 0.743 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ZSCAN10 84891 genome.wustl.edu 37 16 3140073 3140073 + Silent SNP G G A TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cfd08e6d-ca7c-47ed-a7b1-b9affdaf1190 cc7fbc59-ea41-4bf9-931a-a84da881e22c 16 3140073 3140073 G A SNP ZSCAN10 ENST00000252463 human ensembl 70_37 -1 known silent c.1197 p.H399 0.181 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC