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 ACOX1 0 genome.wustl.edu 37 17 73945584 73945584 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 73945584 73945584 C A SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.1576 p.A526S 1.000 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 tier1 - - 113 0 0.00 93 21 18.42 ADCY2 0 genome.wustl.edu 37 5 7817053 7817053 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 7817053 7817053 C T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.2958 p.A986 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 - - 102 0 0.00 138 10 6.76 ADCY8 0 genome.wustl.edu 37 8 132052132 132052132 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 132052132 132052132 G T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.448 p.R150 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 114 0 0.00 53 30 36.14 ADORA2A 0 genome.wustl.edu 37 22 24837050 24837050 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 24837050 24837050 C A SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.832 p.H278N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 30 0 0.00 22 2 8.33 AEBP1 0 genome.wustl.edu 37 7 44152676 44152676 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 44152676 44152676 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.2656 p.L886 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 39 0 0.00 39 5 11.36 AFG3L2 0 genome.wustl.edu 37 18 12358764 12358764 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 12358764 12358764 C T SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known missense c.931 p.A311T 1.000 superfamily_P-loop_NTPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 53 0 0.00 46 4 8.00 AHNAK2 0 genome.wustl.edu 37 14 105418557 105418557 + Silent SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 105418557 105418557 A G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.3231 p.L1077 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 117 0 0.00 102 20 16.39 AKAP9 0 genome.wustl.edu 37 7 91646416 91646416 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 91646416 91646416 G T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.3873 p.K1291N 0.947 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 52 0 0.00 46 7 13.21 ALDH1A2 0 genome.wustl.edu 37 15 58306478 58306478 + Missense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 58306478 58306478 A T SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.119 p.I40N 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 51 0 0.00 22 5 18.52 AMOTL1 0 genome.wustl.edu 37 11 94533184 94533184 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 94533184 94533184 G T SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.828 p.K276N 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 tier1 - - 88 0 0.00 49 4 7.55 ANKFY1 0 genome.wustl.edu 37 17 4086708 4086708 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 4086708 4086708 G A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.2063 p.A688V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 tier1 - - 31 0 0.00 25 4 13.79 ANKRD13D 0 genome.wustl.edu 37 11 67068775 67068775 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 67068775 67068775 C T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known silent c.1254 p.L418 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 tier1 - - 67 0 0.00 47 9 16.07 ANTXRL 0 genome.wustl.edu 37 10 47701302 47701302 + Frame_Shift_Del DEL G G - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 47701302 47701302 G - DEL ANTXRL ENST00000537271 human ensembl 74_37 +1 known frame_shift_del c.1658 p.R553fs 0.000 NULL pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXRL HGNC ENSG00000198250 tier1 42 0 0.00 29 3 9.38 AP1S1 0 genome.wustl.edu 37 7 100799996 100799996 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 100799996 100799996 G A SNP AP1S1 ENST00000337619 human ensembl 74_37 +1 known missense c.125 p.R42Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 tier1 - - 40 0 0.00 60 5 7.69 APOB 0 genome.wustl.edu 37 2 21230478 21230478 + Nonsense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 21230478 21230478 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known nonsense c.9262 p.Q3088* 0.981 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 50 0 0.00 56 3 5.08 ARAP2 0 genome.wustl.edu 37 4 36230983 36230983 + Missense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 36230983 36230983 A T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.126 p.N42K 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 56 0 0.00 26 6 18.75 ARHGAP24 0 genome.wustl.edu 37 4 86396648 86396648 + RNA SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 86396648 86396648 G T SNP ARHGAP24 ENST00000506421 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 42 0 0.00 24 4 14.29 ARMC5 0 genome.wustl.edu 37 16 31473731 31473731 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 31473731 31473731 G T SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.1148 p.S383I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 13 0 0.00 15 2 11.76 ARPC5 0 genome.wustl.edu 37 1 183596224 183596224 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 183596224 183596224 C T SNP ARPC5 ENST00000462965 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ARPC5 HGNC ENSG00000162704 tier1 - - 68 0 0.00 70 4 5.41 ASIC5 0 genome.wustl.edu 37 4 156760008 156760008 + Missense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 156760008 156760008 T A SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known missense c.1023 p.E341D 0.999 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 - - 73 0 0.00 54 4 6.90 ATRNL1 0 genome.wustl.edu 37 10 117024684 117024684 + Frame_Shift_Del DEL A A - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 117024684 117024684 A - DEL ATRNL1 ENST00000355044 human ensembl 74_37 +1 known frame_shift_del c.1702 p.I569fs 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 43 0 0.00 33 3 8.33 ATXN7 0 genome.wustl.edu 37 3 63898360 63898361 + In_Frame_Ins INS - - GCAGCA TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 63898360 63898361 0 GCAGCA INS ATXN7 ENST00000398590 human ensembl 74_37 +1 known in_frame_ins c.86_87 p.33in_frame_insQQ 1.000:1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 8 0 0.00 4 2 33.33 BCAN 0 genome.wustl.edu 37 1 156618381 156618381 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 156618381 156618381 C A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.791 p.P264H 0.978 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 69 0 0.00 51 4 7.14 BCLAF1 0 genome.wustl.edu 37 6 136596728 136596728 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 136596728 136596728 G A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.1794 p.S598 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 86 0 0.00 44 8 15.09 BMP2 0 genome.wustl.edu 37 20 6750872 6750872 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 6750872 6750872 C T SNP BMP2 ENST00000378827 human ensembl 74_37 +1 known silent c.99 p.F33 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 tier1 - - 53 0 0.00 55 5 8.33 BMPR1B 0 genome.wustl.edu 37 4 96075789 96075789 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 96075789 96075789 G T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1564 p.A522S 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 52 0 0.00 35 2 5.41 BRDT 0 genome.wustl.edu 37 1 92470125 92470125 + Missense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 92470125 92470125 A T SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.2543 p.K848M 0.997 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 66 0 0.00 48 3 5.88 C11orf63 0 genome.wustl.edu 37 11 122774866 122774866 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 122774866 122774866 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.578 p.S193I 0.995 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 28 0 0.00 8 6 40.00 C19orf18 0 genome.wustl.edu 37 19 58472872 58472872 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 58472872 58472872 T C SNP C19orf18 ENST00000314391 human ensembl 74_37 -1 known missense c.419 p.K140R 0.690 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 23 0 0.00 29 2 6.45 CACHD1 0 genome.wustl.edu 37 1 65143953 65143953 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 65143953 65143953 G A SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known silent c.3204 p.V1068 0.987 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 tier1 - - 103 0 0.00 74 45 37.82 CACNA1A 0 genome.wustl.edu 37 19 13368366 13368366 + Splice_Site SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 13368366 13368366 C A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known splice_site c.4389-1 e28-1 1.000 - - - no_errors CACNA1A HGNC ENSG00000141837 26 0 0.00 29 2 6.45 CATSPER3 0 genome.wustl.edu 37 5 134303709 134303709 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 134303709 134303709 T C SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known missense c.28 p.S10P 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 tier1 - - 49 0 0.00 39 4 9.30 CCDC180 0 genome.wustl.edu 37 9 100124578 100124578 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 100124578 100124578 G T SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.3889 p.G1297W 0.001 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 - - 68 0 0.00 49 4 7.55 CCRN4L 0 genome.wustl.edu 37 4 139966564 139966564 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 139966564 139966564 C A SNP CCRN4L ENST00000280614 human ensembl 74_37 +1 known missense c.1232 p.P411H 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 tier1 - - 93 0 0.00 49 5 9.09 CDK16 0 genome.wustl.edu 37 X 47088143 47088143 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 47088143 47088143 C G SNP CDK16 ENST00000276052 human ensembl 74_37 +1 known missense c.1689 p.F563L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK16 HGNC ENSG00000102225 tier1 - - 15 0 0.00 6 7 53.85 CDKL1 0 genome.wustl.edu 37 14 50829684 50829684 + RNA SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 50829684 50829684 G T SNP CDKL1 ENST00000356146 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors CDKL1 HGNC ENSG00000100490 tier1 - - 38 0 0.00 45 4 8.16 CDNF 0 genome.wustl.edu 37 10 14879874 14879874 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 14879874 14879874 C T SNP CDNF ENST00000465530 human ensembl 74_37 -1 known silent c.72 p.T24 0.000 NULL pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 48 0 0.00 30 4 11.76 CDT1 0 genome.wustl.edu 37 16 88873597 88873597 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 88873597 88873597 G T SNP CDT1 ENST00000301019 human ensembl 74_37 +1 known missense c.1261 p.D421Y 0.948 NULL pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 tier1 - - 59 0 0.00 44 4 8.33 CELSR1 0 genome.wustl.edu 37 22 46787669 46787669 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 46787669 46787669 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.6009 p.C2003 0.843 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 124 0 0.00 87 6 6.45 CEP152 0 genome.wustl.edu 37 15 49083553 49083553 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 49083553 49083553 G T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.853 p.L285I 0.914 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 67 0 0.00 33 2 5.71 CEP55 0 genome.wustl.edu 37 10 95263009 95263009 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 95263009 95263009 C T SNP CEP55 ENST00000371485 human ensembl 74_37 +1 known missense c.323 p.T108M 0.875 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 70 0 0.00 54 3 5.26 CHIAP2 0 genome.wustl.edu 37 1 111827633 111827633 + RNA SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 111827633 111827633 G T SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 tier1 - - 79 0 0.00 53 4 7.02 CHPF2 0 genome.wustl.edu 37 7 150935231 150935231 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 150935231 150935231 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1783 p.V595M 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 52 0 0.00 74 4 5.13 CMC1 0 genome.wustl.edu 37 3 28361202 28361202 + RNA SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 28361202 28361202 A G SNP CMC1 ENST00000467644 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CMC1 HGNC ENSG00000187118 tier1 - - 23 0 0.00 17 10 37.04 COG5 0 genome.wustl.edu 37 7 106888850 106888850 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 106888850 106888850 T C SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.1937 p.D646G 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 - - 96 0 0.00 92 14 13.08 COL9A1 0 genome.wustl.edu 37 6 70926288 70926288 + RNA SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 70926288 70926288 T C SNP COL9A1 ENST00000486080 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 74 0 0.00 49 8 14.04 CPS1 0 genome.wustl.edu 37 2 211421465 211421465 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 211421465 211421465 G A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.26 p.R9K 1.000 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 92 0 0.00 47 19 28.79 CPT1B 0 genome.wustl.edu 37 22 51010669 51010669 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 51010669 51010669 G A SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.1421 p.A474V 0.994 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 40 0 0.00 27 8 22.86 CSAG4 0 genome.wustl.edu 37 X 151896131 151896131 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 151896131 151896131 C T SNP CSAG4 ENST00000361201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC ENSG00000242599 tier1 - - 100 0 0.00 142 9 5.92 CTNNA3 0 genome.wustl.edu 37 10 68280473 68280473 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 68280473 68280473 G T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1433 p.T478N 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 47 0 0.00 30 2 6.25 CTSS 0 genome.wustl.edu 37 1 150727558 150727558 + Silent SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 150727558 150727558 T C SNP CTSS ENST00000368985 human ensembl 74_37 -1 known silent c.318 p.T106 0.406 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 46 0 0.00 30 5 14.29 CXXC1 0 genome.wustl.edu 37 18 47812290 47812290 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 47812290 47812290 C G SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.468 p.Q156H 0.976 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 55 0 0.00 53 3 5.36 CXorf22 0 genome.wustl.edu 37 X 35974234 35974234 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 35974234 35974234 C A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.1331 p.P444H 1.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 75 0 0.00 56 4 6.67 DDX17 0 genome.wustl.edu 37 22 38884008 38884008 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 38884008 38884008 G T SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known silent c.1560 p.T520 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 tier1 - - 36 0 0.00 27 4 12.90 DKK4 0 genome.wustl.edu 37 8 42232393 42232393 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 42232393 42232393 C T SNP DKK4 ENST00000220812 human ensembl 74_37 -1 known missense c.301 p.E101K 0.865 NULL pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 tier1 - - 76 0 0.00 42 8 16.00 DMTF1 0 genome.wustl.edu 37 7 86795900 86795901 + Frame_Shift_Ins INS - - T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 86795900 86795901 - T INS DMTF1 ENST00000331242 human ensembl 74_37 +1 known frame_shift_ins c.211_212 p.S72fs 1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 tier1 123 0 0.00 95 29 23.39 DMTF1 0 genome.wustl.edu 37 7 86823243 86823243 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 86823243 86823243 A G SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.1853 p.H618R 0.984 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 34 0 0.00 34 2 5.56 DNAH7 0 genome.wustl.edu 37 2 196746602 196746602 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 196746602 196746602 C G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5878 p.A1960P 0.002 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 93 0 0.00 58 18 23.68 DNAJC24 0 genome.wustl.edu 37 11 31392319 31392319 + Frame_Shift_Del DEL A A - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 31392319 31392319 A - DEL DNAJC24 ENST00000465995 human ensembl 74_37 +1 known frame_shift_del c.24 p.K10fs 0.000 superfamily_DnaJ_domain,smart_DnaJ_domain pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC24 HGNC ENSG00000170946 tier1 50 0 0.00 21 2 8.70 DNMT1 0 genome.wustl.edu 37 19 10265092 10265092 + Silent SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 10265092 10265092 C A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.1896 p.T632 0.161 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 tier1 - - 46 0 0.00 25 4 13.79 DOC2B 0 genome.wustl.edu 37 17 11314 11314 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 11314 11314 C T SNP DOC2B ENST00000343572 human ensembl 74_37 -1 known silent c.657 p.E219 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors DOC2B HGNC ENSG00000272636 96 0 0.00 58 4 6.45 DST 0 genome.wustl.edu 37 6 56342211 56342211 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 56342211 56342211 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.21514 p.I7172V 0.997 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 85 0 0.00 81 12 12.90 ELTD1 0 genome.wustl.edu 37 1 79387315 79387315 + Missense_Mutation SNP A A C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 79387315 79387315 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1240 p.S414A 1.000 smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 45 0 0.00 38 3 7.32 ENG 0 genome.wustl.edu 37 9 130578326 130578326 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 130578326 130578326 G T SNP ENG ENST00000373203 human ensembl 74_37 -1 known missense c.1748 p.T583K 0.895 NULL pfam_ZP_dom - no_errors ENG HGNC ENSG00000106991 64 0 0.00 58 4 6.45 ENSG00000202487 0 genome.wustl.edu 37 10 128609392 128609392 + RNA DEL G G - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 128609392 128609392 G - DEL ENSG00000202487 ENST00000365617 human ensembl 74_37 +1 novel rna NULL NULL 0.081 - - - no_errors Y_RNA RFAM ENSG00000202487 tier1 14 0 0.00 4 2 33.33 ENSG00000205148 0 genome.wustl.edu 37 15 96831313 96831313 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 96831313 96831313 G A SNP ENSG00000205148 ENST00000378936 human ensembl 74_37 -1 known silent c.348 p.P116 0.994 NULL NULL - no_errors AC016251.1 Clone_based_ensembl_gene ENSG00000205148 tier1 - - 59 0 0.00 59 4 6.35 ENSG00000216032 0 genome.wustl.edu 37 X 145072422 145072422 + RNA SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 145072422 145072422 T A SNP ENSG00000216032 ENST00000401213 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL445258.1 Clone_based_ensembl_gene ENSG00000216032 tier1 - - 30 0 0.00 22 13 37.14 ENSG00000231933 0 genome.wustl.edu 37 22 26291373 26291373 + RNA SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 26291373 26291373 G A SNP ENSG00000231933 ENST00000593715 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-125H2.2 Clone_based_vega_gene ENSG00000231933 tier1 - - 17 0 0.00 10 6 37.50 ENSG00000234290 0 genome.wustl.edu 37 5 131805690 131805691 + RNA DEL CA CA - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 131805690 131805691 CA - DEL ENSG00000234290 ENST00000443093 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.009 - - - no_errors AC116366.6 Clone_based_vega_gene ENSG00000234290 tier1 32 0 0.00 14 2 12.50 ENSG00000254003 0 genome.wustl.edu 37 7 87848273 87848273 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 87848273 87848273 C T SNP ENSG00000254003 ENST00000520993 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTB-167B5.1 Clone_based_vega_gene ENSG00000254003 tier1 - - 45 0 0.00 25 12 32.43 ENSG00000264714 0 genome.wustl.edu 37 18 10727953 10727954 + RNA INS - - A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 10727953 10727954 - A INS ENSG00000264714 ENST00000581724 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-21G15.1 Clone_based_vega_gene ENSG00000264714 tier1 18 0 0.00 12 4 25.00 ENSG00000265393 0 genome.wustl.edu 37 8 145737961 145737961 + RNA SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 145737961 145737961 A G SNP ENSG00000265393 ENST00000580385 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2517M22.17 Clone_based_vega_gene ENSG00000265393 tier1 - - 82 0 0.00 73 5 6.41 ENSG00000268199 0 genome.wustl.edu 37 19 18554169 18554169 + RNA SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 18554169 18554169 G A SNP ENSG00000268199 ENST00000594590 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3137H5.1 Clone_based_vega_gene ENSG00000268199 tier1 - - 125 0 0.00 106 6 5.36 ENTPD6 0 genome.wustl.edu 37 20 25206242 25206242 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 25206242 25206242 C T SNP ENTPD6 ENST00000463734 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ENTPD6 HGNC ENSG00000197586 tier1 - - 41 0 0.00 41 4 8.89 EPHA1 0 genome.wustl.edu 37 7 143088289 143088290 + RNA INS - - AT TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 143088289 143088290 - AT INS EPHA1 ENST00000458129 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors EPHA1 HGNC ENSG00000146904 tier1 46 0 0.00 39 9 18.75 EPHX3 0 genome.wustl.edu 37 19 15341862 15341862 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 15341862 15341862 G A SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known missense c.527 p.A176V 0.521 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 tier1 - - 52 0 0.00 69 4 5.48 EPPK1 0 genome.wustl.edu 37 8 144945772 144945772 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 144945772 144945772 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1650 p.E550 0.657 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 53 0 0.00 44 4 8.33 ERC1 0 genome.wustl.edu 37 12 1192560 1192560 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 1192560 1192560 G T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.900 p.Q300H 0.995 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 57 0 0.00 54 4 6.90 ESPL1 0 genome.wustl.edu 37 12 53682998 53682998 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 53682998 53682998 G T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.4833 p.R1611 0.995 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 23 0 0.00 17 2 10.53 ETNPPL 0 genome.wustl.edu 37 4 109667932 109667932 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 109667932 109667932 C T SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known silent c.1158 p.Q386 0.989 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 60 0 0.00 64 4 5.88 EXT1 0 genome.wustl.edu 37 8 118817064 118817064 + Missense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 118817064 118817064 T A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1952 p.N651I 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 tier1 - - 127 0 0.00 88 13 12.87 FABP1 0 genome.wustl.edu 37 2 88427516 88427516 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 88427516 88427516 G A SNP FABP1 ENST00000295834 human ensembl 74_37 -1 known silent c.21 p.Y7 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP1 HGNC ENSG00000163586 tier1 - - 52 0 0.00 38 23 37.70 FAM166B 0 genome.wustl.edu 37 9 35563176 35563176 + Missense_Mutation SNP G G C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 35563176 35563176 G C SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.273 p.I91M 0.992 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 tier1 - - 39 0 0.00 35 6 14.63 FAM19A3 0 genome.wustl.edu 37 1 113269299 113269299 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 113269299 113269299 C T SNP FAM19A3 ENST00000369630 human ensembl 74_37 +1 known silent c.507 p.D169 0.000 NULL pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC ENSG00000184599 27 0 0.00 36 4 10.00 FAM46B 0 genome.wustl.edu 37 1 27332675 27332675 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 27332675 27332675 C T SNP FAM46B ENST00000289166 human ensembl 74_37 -1 known silent c.1038 p.L346 0.999 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 29 0 0.00 36 4 10.00 FAM53C 0 genome.wustl.edu 37 5 137680997 137680997 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 137680997 137680997 C T SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known missense c.620 p.A207V 0.962 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 tier1 - - 64 0 0.00 50 4 7.41 FAM86A 0 genome.wustl.edu 37 16 5147684 5147684 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 5147684 5147684 G A SNP FAM86A ENST00000427587 human ensembl 74_37 -1 known silent c.57 p.R19 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86A HGNC ENSG00000118894 tier1 - - 77 0 0.00 63 25 28.41 FBN2 0 genome.wustl.edu 37 5 127728955 127728955 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 127728955 127728955 G T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.1338 p.G446 0.997 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 54 0 0.00 32 13 28.89 FEM1C 0 genome.wustl.edu 37 5 114879143 114879143 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 114879143 114879143 G A SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known silent c.48 p.L16 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 54 0 0.00 31 2 6.06 FERMT1 0 genome.wustl.edu 37 20 6091160 6091160 + Splice_Site SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 6091160 6091160 T A SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known splice_site c.533-2 e4-2 1.000 - - - no_errors FERMT1 HGNC ENSG00000101311 tier1 - - 31 0 0.00 31 4 11.43 FHIT 0 genome.wustl.edu 37 3 59997128 59997128 + Splice_Site SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 59997128 59997128 T C SNP FHIT ENST00000341848 human ensembl 74_37 -1 known splice_site c.250-2 e3-2 1.000 - - - no_errors FHIT HGNC ENSG00000189283 tier1 - - 72 0 0.00 36 16 30.77 FIGN 0 genome.wustl.edu 37 2 164468194 164468194 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 164468194 164468194 A G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.148 p.Y50H 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 51 0 0.00 57 21 26.92 FLT4 0 genome.wustl.edu 37 5 180048054 180048054 + RNA SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 180048054 180048054 G A SNP FLT4 ENST00000424276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 47 0 0.00 25 6 19.35 FPGS 0 genome.wustl.edu 37 9 130570536 130570536 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 130570536 130570536 G A SNP FPGS ENST00000373247 human ensembl 74_37 +1 known silent c.768 p.V256 0.885 superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 tier1 - - 48 0 0.00 33 4 10.81 FSIP2 0 genome.wustl.edu 37 2 186655868 186655868 + Silent SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 186655868 186655868 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.4272 p.A1424 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 31 0 0.00 34 4 10.53 GBF1 0 genome.wustl.edu 37 10 104119146 104119146 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 104119146 104119146 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.1131 p.Y377 0.741 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 tier1 - - 72 0 0.00 44 4 8.33 GCNT3 0 genome.wustl.edu 37 15 59911073 59911073 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 59911073 59911073 C T SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known silent c.636 p.D212 0.994 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 80 0 0.00 53 3 5.36 GDPD3 0 genome.wustl.edu 37 16 30124768 30124768 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 30124768 30124768 G A SNP GDPD3 ENST00000406256 human ensembl 74_37 -1 known missense c.32 p.A11V 0.614 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD3 HGNC ENSG00000102886 tier1 - - 71 0 0.00 51 4 7.27 GJC1 0 genome.wustl.edu 37 17 42883008 42883008 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 42883008 42883008 A G SNP GJC1 ENST00000330514 human ensembl 74_37 -1 known missense c.178 p.C60R 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin45 - no_errors GJC1 HGNC ENSG00000182963 tier1 - - 46 0 0.00 49 4 7.55 GLI1 0 genome.wustl.edu 37 12 57865571 57865571 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 57865571 57865571 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known silent c.3048 p.V1016 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 37 0 0.00 30 4 11.76 GLIPR1L2 0 genome.wustl.edu 37 12 75807475 75807475 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 75807475 75807475 C T SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known missense c.578 p.A193V 0.999 superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 82 0 0.00 47 3 6.00 GLRA3 0 genome.wustl.edu 37 4 175565062 175565062 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 175565062 175565062 G T SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known silent c.1270 p.R424 0.980 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 54 0 0.00 37 2 5.13 GOLGB1 0 genome.wustl.edu 37 3 121437303 121437303 + Missense_Mutation SNP A A C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 121437303 121437303 A C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.802 p.L268V 0.838 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 72 0 0.00 33 29 46.77 GPR161 0 genome.wustl.edu 37 1 168073767 168073767 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 168073767 168073767 G T SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.382 p.L128M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 50 0 0.00 53 4 7.02 GPRC5C 0 genome.wustl.edu 37 17 72442995 72442995 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 72442995 72442995 G A SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.1289 p.G430E 0.976 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 - - 87 0 0.00 65 12 15.58 GSR 0 genome.wustl.edu 37 8 30560690 30560690 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 30560690 30560690 C A SNP GSR ENST00000221130 human ensembl 74_37 -1 known missense c.560 p.S187I 0.813 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 tier1 - - 55 0 0.00 59 4 6.35 HM13 0 genome.wustl.edu 37 20 30126009 30126009 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 30126009 30126009 C T SNP HM13 ENST00000398174 human ensembl 74_37 +1 known silent c.310 p.L104 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 tier1 - - 44 0 0.00 32 11 25.58 HNRNPD 0 genome.wustl.edu 37 4 83292697 83292697 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 83292697 83292697 C T SNP HNRNPD ENST00000313899 human ensembl 74_37 -1 known missense c.274 p.A92T 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 tier1 - - 40 0 0.00 28 4 12.50 HNRNPR 0 genome.wustl.edu 37 1 23645059 23645059 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 23645059 23645059 C T SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known missense c.943 p.G315R 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 tier1 - - 65 0 0.00 42 8 16.00 HSD17B13 0 genome.wustl.edu 37 4 88239522 88239522 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 88239522 88239522 C G SNP HSD17B13 ENST00000328546 human ensembl 74_37 -1 known missense c.277 p.D93H 0.993 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B13 HGNC ENSG00000170509 46 0 0.00 41 5 10.87 IL18RAP 0 genome.wustl.edu 37 2 103067351 103067351 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 103067351 103067351 C A SNP IL18RAP ENST00000264260 human ensembl 74_37 +1 known missense c.1254 p.S418R 0.006 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL18RAP HGNC ENSG00000115607 tier1 - - 66 0 0.00 71 5 6.58 ILF2 0 genome.wustl.edu 37 1 153636905 153636905 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 153636905 153636905 G A SNP ILF2 ENST00000361891 human ensembl 74_37 -1 known missense c.623 p.A208V 1.000 pfam_DZF,smart_DZF pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 tier1 - - 52 0 0.00 26 4 13.33 INO80 0 genome.wustl.edu 37 15 41365685 41365685 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 41365685 41365685 G T SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.1336 p.H446N 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 tier1 - - 62 0 0.00 48 4 7.69 INSR 0 genome.wustl.edu 37 19 7141779 7141779 + Missense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 7141779 7141779 T A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.2591 p.N864I 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 50 0 0.00 26 4 13.33 ITGA3 0 genome.wustl.edu 37 17 48157713 48157713 + Nonsense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 48157713 48157713 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known nonsense c.2794 p.R932* 0.956 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 tier1 - - 50 0 0.00 30 6 16.67 ITGAD 0 genome.wustl.edu 37 16 31419760 31419760 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 31419760 31419760 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1024 p.A342T 0.006 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 34 0 0.00 34 4 10.53 KAT6A 0 genome.wustl.edu 37 8 41836217 41836217 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 41836217 41836217 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.986 p.R329Q 1.000 superfamily_Znf_FYVE_PHD pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 tier1 - - 98 0 0.00 41 23 35.38 KCNAB2 0 genome.wustl.edu 37 1 6111666 6111666 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 6111666 6111666 C A SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known missense c.70 p.H24N 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 tier1 - - 11 0 0.00 11 5 31.25 KCNJ6 0 genome.wustl.edu 37 21 39086839 39086839 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 21 39086839 39086839 G T SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known silent c.621 p.T207 0.981 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 tier1 - - 76 0 0.00 55 4 6.78 KCNK5 0 genome.wustl.edu 37 6 39159198 39159198 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 39159198 39159198 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.968 p.P323L 0.009 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 22 0 0.00 15 3 16.67 KCNQ5 0 genome.wustl.edu 37 6 73751728 73751728 + Nonsense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 73751728 73751728 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known nonsense c.559 p.R187* 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 66 0 0.00 47 3 6.00 KCNS2 0 genome.wustl.edu 37 8 99440687 99440687 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 99440687 99440687 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known silent c.480 p.K160 1.000 NULL pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 20 0 0.00 25 3 10.71 KCP 0 genome.wustl.edu 37 7 128547229 128547229 + RNA SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 128547229 128547229 G T SNP KCP ENST00000297801 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KCP HGNC ENSG00000135253 tier1 - - 65 0 0.00 65 5 7.14 KHNYN 0 genome.wustl.edu 37 14 24905337 24905337 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 24905337 24905337 G T SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known missense c.1637 p.R546L 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 - - 63 0 0.00 62 4 5.97 KIAA0368 0 genome.wustl.edu 37 9 114124436 114124436 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 114124436 114124436 C A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.5928 p.W1976C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 43 0 0.00 13 6 31.58 KIAA0753 0 genome.wustl.edu 37 17 6510250 6510250 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 6510250 6510250 C T SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.1952 p.R651K 1.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 tier1 - - 40 0 0.00 40 11 21.57 KIAA1210 0 genome.wustl.edu 37 X 118221250 118221250 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 118221250 118221250 C A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.3943 p.A1315S 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 55 0 0.00 20 3 13.04 KIF13A 0 genome.wustl.edu 37 6 17837812 17837812 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 17837812 17837812 G A SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.833 p.S278L 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 76 0 0.00 51 3 5.56 KLHL23 0 genome.wustl.edu 37 2 170591806 170591806 + Nonsense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 170591806 170591806 T A SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known nonsense c.282 p.Y94* 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 67 0 0.00 45 4 8.16 L3MBTL1 0 genome.wustl.edu 37 20 42169415 42169415 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 42169415 42169415 T C SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.2288 p.L763P 1.000 superfamily_SAM/pointed pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 tier1 - - 57 0 0.00 49 4 7.55 LATS1 0 genome.wustl.edu 37 6 150005477 150005477 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 150005477 150005477 G T SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.748 p.P250T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 71 0 0.00 57 4 6.56 LILRB1 0 genome.wustl.edu 37 19 55146736 55146736 + Nonsense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 55146736 55146736 A T SNP LILRB1 ENST00000421584 human ensembl 74_37 +1 known nonsense c.1510 p.K504* 0.025 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 62 0 0.00 55 21 27.63 LIPI 0 genome.wustl.edu 37 21 15554181 15554181 + Splice_Site SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 21 15554181 15554181 C T SNP LIPI ENST00000344577 human ensembl 74_37 -1 known splice_site c.605-1 e4-1 1.000 - - - no_errors LIPI HGNC ENSG00000188992 64 0 0.00 38 4 9.52 LOC101929693 0 genome.wustl.edu 37 17 38497581 38497581 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 38497581 38497581 C T SNP LOC101929693 ENST00000581080 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2267D19.2 Clone_based_vega_gene ENSG00000265666 tier1 - - 38 0 0.00 37 4 9.76 LOC285696 0 genome.wustl.edu 37 5 17216508 17216508 + RNA SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 17216508 17216508 G A SNP LOC285696 ENST00000399760 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC091878.1 Clone_based_vega_gene ENSG00000215196 tier1 - - 33 0 0.00 32 9 21.95 LRP1B 0 genome.wustl.edu 37 2 141079538 141079538 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 141079538 141079538 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12634 p.L4212M 0.003 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 91 0 0.00 90 9 9.09 LSM11 0 genome.wustl.edu 37 5 157181018 157181018 + Missense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 157181018 157181018 A T SNP LSM11 ENST00000286307 human ensembl 74_37 +1 known missense c.595 p.T199S 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 91 0 0.00 37 2 5.13 MACF1 0 genome.wustl.edu 37 1 39951437 39951437 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 39951437 39951437 T C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.16264 p.S5422P 0.999 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 61 0 0.00 63 5 7.35 MACROD2 0 genome.wustl.edu 37 20 15967423 15967423 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 15967423 15967423 A G SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.1037 p.Q346R 1.000 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 46 0 0.00 26 9 25.71 MAN2A2 0 genome.wustl.edu 37 15 91449976 91449976 + Frame_Shift_Del DEL C C - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 91449976 91449976 C - DEL MAN2A2 ENST00000360468 human ensembl 74_37 +1 known frame_shift_del c.842 p.R283fs 0.980 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 tier1 23 0 0.00 18 2 10.00 MAN2B1 0 genome.wustl.edu 37 19 12775706 12775706 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 12775706 12775706 C A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.530 p.R177L 0.997 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 37 0 0.00 37 2 5.13 MAP2 0 genome.wustl.edu 37 2 210517948 210517948 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 210517948 210517948 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.54 p.P18 0.012 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 100 0 0.00 49 3 5.77 MARCH4 0 genome.wustl.edu 37 2 217234789 217234789 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 217234789 217234789 G A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.195 p.H65 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 46 0 0.00 29 8 21.62 MARCH9 0 genome.wustl.edu 37 12 58150746 58150746 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 58150746 58150746 C T SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known missense c.392 p.S131L 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 50 0 0.00 48 4 7.69 MCM2 0 genome.wustl.edu 37 3 127325075 127325075 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 127325075 127325075 C T SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.788 p.A263V 1.000 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 71 0 0.00 65 4 5.80 MCM3AP 0 genome.wustl.edu 37 21 47704296 47704296 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 21 47704296 47704296 C A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.905 p.R302M 0.938 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 60 0 0.00 22 19 46.34 MEGF8 0 genome.wustl.edu 37 19 42873013 42873013 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 42873013 42873013 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.6500 p.P2167L 0.138 smart_Plexin-like_fold pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 81 0 0.00 74 6 7.50 MEIS1 0 genome.wustl.edu 37 2 66796256 66796256 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 66796256 66796256 C T SNP MEIS1 ENST00000409517 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MEIS1 HGNC ENSG00000143995 tier1 - - 91 0 0.00 73 22 23.16 MICAL3 0 genome.wustl.edu 37 22 18347478 18347478 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 18347478 18347478 A G SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.3164 p.L1055P 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 53 0 0.00 42 4 8.70 MRPL3 0 genome.wustl.edu 37 3 131181670 131181670 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 131181670 131181670 G T SNP MRPL3 ENST00000264995 human ensembl 74_37 -1 known missense c.944 p.P315Q 0.999 superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 tier1 - - 54 0 0.00 33 4 10.81 MS4A14 0 genome.wustl.edu 37 11 60183805 60183805 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 60183805 60183805 T C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1364 p.M455T 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 58 0 0.00 33 13 28.26 MS4A6E 0 genome.wustl.edu 37 11 60105265 60105265 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 60105265 60105265 G A SNP MS4A6E ENST00000300182 human ensembl 74_37 +1 known missense c.199 p.G67S 0.005 pfam_CD20-like pfam_CD20-like - no_errors MS4A6E HGNC ENSG00000166926 tier1 - - 100 0 0.00 77 29 27.36 MT-TS1 0 genome.wustl.edu 37 MT 7465 7466 + RNA INS - - C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 MT 7465 7466 0 C INS MT-TS1 ENST00000387416 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TS1 HGNC ENSG00000210151 93 0 0.00 334 43 11.41 MTOR 0 genome.wustl.edu 37 1 11184628 11184628 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 11184628 11184628 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.6589 p.R2197C 0.963 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 43 0 0.00 41 4 8.89 MUC16 0 genome.wustl.edu 37 19 9061099 9061099 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 9061099 9061099 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.26347 p.A8783T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 48 0 0.00 43 4 8.51 MYH15 0 genome.wustl.edu 37 3 108133184 108133184 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 108133184 108133184 G T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4100 p.A1367D 0.736 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 60 0 0.00 44 5 10.20 MYO15A 0 genome.wustl.edu 37 17 18051429 18051429 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 18051429 18051429 G T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.6596 p.G2199V 0.995 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 70 0 0.00 62 4 6.06 NAPG 0 genome.wustl.edu 37 18 10548971 10548971 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 10548971 10548971 G T SNP NAPG ENST00000322897 human ensembl 74_37 +1 known missense c.673 p.G225W 1.000 NULL NULL - no_errors NAPG HGNC ENSG00000134265 tier1 - - 56 0 0.00 66 4 5.71 NASP 0 genome.wustl.edu 37 1 46073618 46073618 + Silent SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 46073618 46073618 A G SNP NASP ENST00000402363 human ensembl 74_37 +1 known silent c.1041 p.P347 0.001 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 62 0 0.00 65 4 5.80 NCOR2 0 genome.wustl.edu 37 12 124824739 124824740 + Frame_Shift_Ins INS - - GCCG TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 124824739 124824740 - GCCG INS NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_ins c.5521_5520 p.S1840fs 1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 31 0 0.00 36 5 12.20 NEDD9 0 genome.wustl.edu 37 6 11190694 11190694 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 11190694 11190694 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.1408 p.V470I 0.000 pfam_Serine_rich pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 - - 71 0 0.00 31 16 34.04 NEU4 0 genome.wustl.edu 37 2 242757506 242757506 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 242757506 242757506 A G SNP NEU4 ENST00000325935 human ensembl 74_37 +1 known missense c.626 p.H209R 0.963 superfamily_Sialidases superfamily_Sialidases - no_errors NEU4 HGNC ENSG00000204099 tier1 - - 38 0 0.00 35 4 10.26 NFASC 0 genome.wustl.edu 37 1 204987304 204987304 + RNA SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 204987304 204987304 G A SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 37 0 0.00 34 19 35.85 NLRC3 0 genome.wustl.edu 37 16 3613869 3613869 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 3613869 3613869 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.1210 p.P404S 0.990 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 23 0 0.00 21 9 30.00 NONO 0 genome.wustl.edu 37 X 70520904 70520905 + RNA INS - - T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 70520904 70520905 - T INS NONO ENST00000490044 human ensembl 74_37 +1 known rna NULL NULL 0.993:0.995 - - - no_errors NONO HGNC ENSG00000147140 tier1 23 0 0.00 20 4 16.67 NPC1 0 genome.wustl.edu 37 18 21121380 21121380 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 21121380 21121380 G A SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.2263 p.P755S 1.000 pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 tier1 - - 61 0 0.00 60 4 6.25 NR5A2 0 genome.wustl.edu 37 1 200012970 200012970 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 200012970 200012970 G A SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.271 p.D91N 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 tier1 - - 58 0 0.00 61 9 12.86 OGFOD2 0 genome.wustl.edu 37 12 123461501 123461501 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 123461501 123461501 G A SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known silent c.387 p.R129 0.078 NULL smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 70 0 0.00 57 3 5.00 OPN5 0 genome.wustl.edu 37 6 47779443 47779443 + Silent SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 47779443 47779443 T C SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known silent c.1032 p.S344 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 tier1 - - 31 0 0.00 29 4 12.12 OR2J3 0 genome.wustl.edu 37 6 29080478 29080478 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 29080478 29080478 C G SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.811 p.Q271E 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 tier1 - - 33 0 0.00 19 6 24.00 OR51A4 0 genome.wustl.edu 37 11 4967979 4967979 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 4967979 4967979 G A SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known silent c.352 p.L118 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 58 0 0.00 30 2 6.25 OR5T2 0 genome.wustl.edu 37 11 56000005 56000005 + Silent SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 56000005 56000005 A G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.657 p.D219 0.018 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 80 0 0.00 64 6 8.57 OTOG 0 genome.wustl.edu 37 11 17569725 17569725 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 17569725 17569725 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.218 p.A73V 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 46 0 0.00 40 4 8.89 P4HTM 0 genome.wustl.edu 37 3 49041623 49041623 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 49041623 49041623 C T SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.817 p.R273W 0.998 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 tier1 rs199611252 - 20 0 0.00 20 5 20.00 PADI4 0 genome.wustl.edu 37 1 17657501 17657501 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 17657501 17657501 G A SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known missense c.130 p.A44T 0.008 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 tier1 - - 68 0 0.00 35 4 10.26 PCDH18 0 genome.wustl.edu 37 4 138453100 138453100 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 138453100 138453100 G A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.143 p.S48L 0.933 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 52 0 0.00 36 2 5.26 PCDHB13 0 genome.wustl.edu 37 5 140595492 140595492 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 140595492 140595492 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1797 p.N599 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 40 0 0.00 26 11 29.73 PCDHB14 0 genome.wustl.edu 37 5 140603871 140603871 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 140603871 140603871 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.794 p.S265L 0.939 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 PCDHB14 HGNC ENSG00000120327 tier1 - - 79 0 0.00 51 17 25.00 PCGF2 0 genome.wustl.edu 37 17 36891779 36891779 + Missense_Mutation SNP G G C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 36891779 36891779 G C SNP PCGF2 ENST00000579882 human ensembl 74_37 -1 putative missense c.736 p.L246V 0.088 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 23 0 0.00 23 5 17.86 PCMTD1 0 genome.wustl.edu 37 8 52773576 52773576 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 52773576 52773576 A G SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.136 p.Y46H 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 tier1 - - 39 0 0.00 26 8 23.53 PCNXL2 0 genome.wustl.edu 37 1 233121788 233121788 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 233121788 233121788 C T SNP PCNXL2 ENST00000344698 human ensembl 74_37 -1 known missense c.2246 p.G749D 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 40 0 0.00 31 4 11.43 PDE8B 0 genome.wustl.edu 37 5 76704799 76704799 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 5 76704799 76704799 C T SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.1447 p.R483W 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 tier1 - - 98 0 0.00 65 5 7.14 PELI2 0 genome.wustl.edu 37 14 56763776 56763776 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 56763776 56763776 G A SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known silent c.1155 p.P385 0.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 tier1 - - 50 0 0.00 56 4 6.67 PELI3 0 genome.wustl.edu 37 11 66241210 66241210 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 66241210 66241210 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.654 p.E218 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 134 0 0.00 100 20 16.67 PITRM1 0 genome.wustl.edu 37 10 3208472 3208472 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 3208472 3208472 A G SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.367 p.F123L 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 80 0 0.00 64 4 5.88 PLA1A 0 genome.wustl.edu 37 3 119325794 119325794 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 119325794 119325794 G A SNP PLA1A ENST00000273371 human ensembl 74_37 +1 known missense c.247 p.G83R 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 tier1 rs141940849 - 44 0 0.00 11 18 62.07 PLEKHO2 0 genome.wustl.edu 37 15 65157916 65157916 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 65157916 65157916 G A SNP PLEKHO2 ENST00000323544 human ensembl 74_37 +1 known silent c.1302 p.E434 0.663 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC ENSG00000241839 tier1 - - 56 0 0.00 26 4 13.33 POMT1 0 genome.wustl.edu 37 9 134386739 134386739 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 134386739 134386739 A G SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known missense c.937 p.I313V 0.999 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 64 0 0.00 67 4 5.63 PPP1R9A 0 genome.wustl.edu 37 7 94879515 94879515 + Missense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 94879515 94879515 T A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.2278 p.L760M 0.999 superfamily_Smac_DIABLO-like pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 80 0 0.00 64 4 5.88 PPP6R2 0 genome.wustl.edu 37 22 50879410 50879410 + Frame_Shift_Del DEL C C - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 50879410 50879410 C - DEL PPP6R2 ENST00000216061 human ensembl 74_37 +1 known frame_shift_del c.2555 p.P854fs 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 tier1 70 0 0.00 49 3 5.77 PQBP1 0 genome.wustl.edu 37 X 48759676 48759676 + Missense_Mutation SNP A A C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 48759676 48759676 A C SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.459 p.R153S 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 tier1 - - 22 0 0.00 7 12 63.16 PRKD1 0 genome.wustl.edu 37 14 30103628 30103628 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 30103628 30103628 G A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1310 p.T437M 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 42 0 0.00 23 2 8.00 PRSS51 0 genome.wustl.edu 37 8 10355439 10355439 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 10355439 10355439 C T SNP PRSS51 ENST00000523024 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PRSS51 HGNC ENSG00000253649 tier1 - - 70 0 0.00 37 14 27.45 PRUNE2 0 genome.wustl.edu 37 9 79320636 79320636 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 79320636 79320636 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.5477 p.S1826F 0.813 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 51 0 0.00 26 3 10.34 PSME3 0 genome.wustl.edu 37 17 40993560 40993560 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 40993560 40993560 C T SNP PSME3 ENST00000293362 human ensembl 74_37 +1 known missense c.769 p.R257W 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME3 HGNC ENSG00000131467 tier1 - - 59 0 0.00 55 15 21.43 PTCHD3 0 genome.wustl.edu 37 10 27692206 27692206 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 27692206 27692206 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.1292 p.G431D 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 68 0 0.00 55 4 6.78 PTPN4 0 genome.wustl.edu 37 2 120677751 120677751 + Missense_Mutation SNP G G C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 120677751 120677751 G C SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.935 p.R312T 1.000 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 - - 32 0 0.00 40 5 11.11 PTPRN 0 genome.wustl.edu 37 2 220155604 220155604 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 220155604 220155604 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.2738 p.A913V 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 65 0 0.00 37 2 5.00 PTPRQ 0 genome.wustl.edu 37 12 81013218 81013218 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 81013218 81013218 G T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known silent c.5274 p.L1758 0.996 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 79 0 0.00 71 4 5.33 R3HDM2 0 genome.wustl.edu 37 12 57648738 57648738 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 57648738 57648738 T C SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.2749 p.T917A 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 64 0 0.00 27 20 42.55 RAB11FIP3 0 genome.wustl.edu 37 16 532543 532543 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 532543 532543 A G SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.922 p.S308G 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 tier1 - - 24 0 0.00 28 4 12.50 RAG1 0 genome.wustl.edu 37 11 36596040 36596040 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 36596040 36596040 C T SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.1186 p.R396C 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 tier1 rs104894289 - 47 0 0.00 32 9 21.95 RENBP 0 genome.wustl.edu 37 X 153208330 153208330 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 153208330 153208330 G A SNP RENBP ENST00000393700 human ensembl 74_37 -1 known missense c.664 p.R222W 0.004 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 tier1 - - 36 0 0.00 58 22 27.50 RNF122 0 genome.wustl.edu 37 8 33406939 33406939 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 33406939 33406939 G A SNP RNF122 ENST00000256257 human ensembl 74_37 -1 known silent c.342 p.A114 0.998 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 tier1 - - 46 0 0.00 37 9 19.57 RSPH4A 0 genome.wustl.edu 37 6 116948791 116948791 + Splice_Site SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 116948791 116948791 G T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known splice_site c.922-1 e3-1 1.000 - - - no_errors RSPH4A HGNC ENSG00000111834 tier1 - - 55 0 0.00 58 4 6.45 SAP130 0 genome.wustl.edu 37 2 128699581 128699581 + Nonstop_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 128699581 128699581 T C SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known nonstop c.3251 p.*1084W 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 21 0 0.00 20 3 13.04 SCAF8 0 genome.wustl.edu 37 6 155143418 155143418 + Missense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 155143418 155143418 A T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.1999 p.T667S 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 - - 80 0 0.00 62 4 6.06 SCN11A 0 genome.wustl.edu 37 3 38924792 38924792 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 38924792 38924792 G T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3151 p.Q1051K 0.974 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 68 0 0.00 27 20 42.55 SCN11A 0 genome.wustl.edu 37 3 38938526 38938526 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 38938526 38938526 G T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2213 p.P738Q 0.002 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 70 0 0.00 49 5 9.09 SCN9A 0 genome.wustl.edu 37 2 167056010 167056010 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 167056010 167056010 G T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known silent c.5142 p.P1714 0.002 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 55 0 0.00 57 4 6.56 SEMA3A 0 genome.wustl.edu 37 7 83643617 83643617 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 83643617 83643617 C G SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.718 p.D240H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 55 0 0.00 41 20 32.79 SERPINB10 0 genome.wustl.edu 37 18 61602418 61602420 + In_Frame_Del DEL TCA TCA - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 61602418 61602420 TCA - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known in_frame_del c.1136_1138 p.I380in_frame_del 1.000:1.000:1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 tier1 30 0 0.00 9 2 18.18 SETDB1 0 genome.wustl.edu 37 1 150913897 150913897 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 150913897 150913897 G A SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known silent c.540 p.L180 0.006 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 tier1 - - 55 0 0.00 74 4 5.13 SHPRH 0 genome.wustl.edu 37 6 146275889 146275889 + Frame_Shift_Del DEL C C - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 146275889 146275889 C - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.570 p.W191fs 0.000 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 38 0 0.00 36 2 5.26 SKI 0 genome.wustl.edu 37 1 2160898 2160898 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 2160898 2160898 G T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.693 p.L231 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 tier1 - - 51 0 0.00 35 33 48.53 SLC25A3P1 0 genome.wustl.edu 37 1 53904088 53904088 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 53904088 53904088 C T SNP SLC25A3P1 ENST00000566100 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 36 0 0.00 33 5 13.16 SLC25A3P1 0 genome.wustl.edu 37 1 53904463 53904463 + RNA SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 53904463 53904463 C T SNP SLC25A3P1 ENST00000562700 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 30 0 0.00 17 4 19.05 SLC2A9 0 genome.wustl.edu 37 4 9892247 9892247 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 4 9892247 9892247 G T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.1202 p.T401K 0.001 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 tier1 - - 55 0 0.00 58 4 6.45 SLC46A1 0 genome.wustl.edu 37 17 26727724 26727724 + Splice_Site SNP T T G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 26727724 26727724 T G SNP SLC46A1 ENST00000321666 human ensembl 74_37 -1 known splice_site c.1140+1 e3+1 0.999 - - - no_errors SLC46A1 HGNC ENSG00000076351 130 0 0.00 114 9 7.32 SLC9A5 0 genome.wustl.edu 37 16 67304865 67304865 + Silent SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 67304865 67304865 C T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known silent c.2443 p.L815 0.439 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 96 0 0.00 56 3 5.08 SLITRK3 0 genome.wustl.edu 37 3 164907746 164907746 + Silent SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 164907746 164907746 A T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.873 p.A291 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 67 0 0.00 53 4 7.02 SLITRK4 0 genome.wustl.edu 37 X 142717585 142717585 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 142717585 142717585 C A SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.1340 p.G447V 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 tier1 - - 33 0 0.00 26 14 35.00 SNHG14 0 genome.wustl.edu 37 15 25490534 25490534 + RNA SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 25490534 25490534 C A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 43 0 0.00 14 22 61.11 SNORA64 0 genome.wustl.edu 37 16 2012996 2012997 + RNA DEL AG AG - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 2012996 2012997 AG - DEL SNORA64 ENST00000384674 human ensembl 74_37 -1 known rna NULL NULL 0.331:0.320 - - - no_errors SNORA64 HGNC ENSG00000207405 tier1 83 0 0.00 50 16 24.24 SNORD115-29 0 genome.wustl.edu 37 15 25468394 25468394 + RNA SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 15 25468394 25468394 G T SNP SNORD115-29 ENST00000362834 human ensembl 74_37 +1 known rna NULL NULL 0.677 - - - no_errors SNORD115-29 HGNC ENSG00000199704 tier1 - - 97 0 0.00 75 52 40.94 SNRNP35 0 genome.wustl.edu 37 12 123956336 123956337 + RNA INS - - A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 12 123956336 123956337 - A INS SNRNP35 ENST00000527158 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SNRNP35 HGNC ENSG00000184209 tier1 47 0 0.00 31 4 11.43 SPPL2C 0 genome.wustl.edu 37 17 43923001 43923001 + Silent SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 43923001 43923001 T C SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.729 p.D243 0.003 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 49 0 0.00 40 4 9.09 SS18 0 genome.wustl.edu 37 18 23618524 23618524 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 18 23618524 23618524 G T SNP SS18 ENST00000415083 human ensembl 74_37 -1 known missense c.875 p.P292H 1.000 NULL pfam_SS18_fam - no_errors SS18 HGNC ENSG00000141380 tier1 - - 84 0 0.00 58 4 6.45 ST5 0 genome.wustl.edu 37 11 8719178 8719178 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 8719178 8719178 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.2946 p.D982 0.995 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 43 0 0.00 23 2 8.00 SURF2 0 genome.wustl.edu 37 9 136227218 136227218 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 9 136227218 136227218 G T SNP SURF2 ENST00000371964 human ensembl 74_37 +1 known missense c.595 p.D199Y 0.319 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 67 0 0.00 30 4 11.76 SYNJ1 0 genome.wustl.edu 37 21 34011255 34011255 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 21 34011255 34011255 G T SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.3995 p.S1332Y 1.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 tier1 - - 94 0 0.00 71 4 5.33 TANC1 0 genome.wustl.edu 37 2 160035233 160035233 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 160035233 160035233 G T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2069 p.G690V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 51 0 0.00 56 3 5.08 TANC2 0 genome.wustl.edu 37 17 61086934 61086934 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 61086934 61086934 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.14 p.S5N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 tier1 - - 71 0 0.00 37 11 22.92 TAS1R2 0 genome.wustl.edu 37 1 19180792 19180792 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 19180792 19180792 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.1172 p.A391V 0.927 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 45 0 0.00 35 5 12.50 TBL3 0 genome.wustl.edu 37 16 2025698 2025698 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 2025698 2025698 G A SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.974 p.R325Q 0.498 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 tier1 - - 26 0 0.00 20 4 16.67 TBR1 0 genome.wustl.edu 37 2 162273517 162273517 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 162273517 162273517 T C SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known missense c.596 p.L199P 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 74 0 0.00 72 4 5.26 TBX1 0 genome.wustl.edu 37 22 19766827 19766827 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 19766827 19766827 C T SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known missense c.1094 p.A365V 0.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 71 0 0.00 52 4 7.14 TEP1 0 genome.wustl.edu 37 14 20876111 20876111 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 20876111 20876111 G A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.488 p.S163F 0.584 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 - - 71 0 0.00 52 4 7.14 TGFBRAP1 0 genome.wustl.edu 37 2 105886008 105886008 + Silent SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 105886008 105886008 T A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.2127 p.P709 0.000 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 44 0 0.00 58 6 9.38 THOC5 0 genome.wustl.edu 37 22 29939454 29939454 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 29939454 29939454 G T SNP THOC5 ENST00000397871 human ensembl 74_37 -1 known missense c.318 p.H106Q 1.000 pfam_THO_Thoc5 pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 tier1 - - 72 0 0.00 55 4 6.78 TINAGL1 0 genome.wustl.edu 37 1 32052456 32052456 + Frame_Shift_Del DEL G G - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 32052456 32052456 G - DEL TINAGL1 ENST00000271064 human ensembl 74_37 +1 known frame_shift_del c.1280 p.G428fs 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 tier1 61 0 0.00 64 10 13.51 TLR7 0 genome.wustl.edu 37 X 12905425 12905425 + Nonsense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 12905425 12905425 A T SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known nonsense c.1798 p.K600* 0.981 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 tier1 - - 67 0 0.00 32 23 41.82 TMC4 0 genome.wustl.edu 37 19 54664700 54664700 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 54664700 54664700 T C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.1888 p.I630V 0.979 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 tier1 - - 34 0 0.00 30 5 14.29 TMEM189-UBE2V1 0 genome.wustl.edu 37 20 48746215 48746215 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 20 48746215 48746215 G T SNP TMEM189-UBE2V1 ENST00000341698 human ensembl 74_37 -1 known missense c.346 p.P116T 0.994 pfam_KuaUb-conj-enz_UEV1 pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors TMEM189-UBE2V1 HGNC ENSG00000124208 tier1 - - 66 0 0.00 49 4 7.55 TMEM206 0 genome.wustl.edu 37 1 212558750 212558750 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 212558750 212558750 C T SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known missense c.544 p.G182S 0.998 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 tier1 - - 69 0 0.00 70 16 18.60 TMEM26 0 genome.wustl.edu 37 10 63188874 63188874 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 63188874 63188874 C T SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known missense c.415 p.V139I 0.824 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 tier1 - - 49 0 0.00 26 7 21.21 TMEM8A 0 genome.wustl.edu 37 16 422216 422216 + Missense_Mutation SNP A A T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 422216 422216 A T SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.2087 p.L696Q 1.000 pfam_DUF3522 pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 tier1 - - 20 0 0.00 22 4 15.38 TMPRSS9 0 genome.wustl.edu 37 19 2399192 2399192 + Splice_Site SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 2399192 2399192 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known splice_site c.412+1 e3+1 1.000 - - - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 85 0 0.00 54 4 6.67 TNFAIP6 0 genome.wustl.edu 37 2 152236046 152236046 + Frame_Shift_Del DEL A A - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 2 152236046 152236046 A - DEL TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known frame_shift_del c.833 p.*278fs 0.961 NULL pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 tier1 17 0 0.00 26 4 13.33 TNRC6B 0 genome.wustl.edu 37 22 40718961 40718961 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 40718961 40718961 A G SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.5218 p.S1740G 0.501 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 tier1 - - 50 0 0.00 23 25 52.08 TONSL 0 genome.wustl.edu 37 8 145668590 145668590 + Silent SNP T T G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 8 145668590 145668590 T G SNP TONSL ENST00000409379 human ensembl 74_37 -1 known silent c.379 p.R127 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 65 0 0.00 57 5 8.06 TOP3B 0 genome.wustl.edu 37 22 22328814 22328814 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 22328814 22328814 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known silent c.117 p.H39 0.331 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 90 0 0.00 52 3 5.45 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 80 0 0.00 48 31 39.24 TRIM15 0 genome.wustl.edu 37 6 30136085 30136085 + Silent SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 30136085 30136085 C A SNP TRIM15 ENST00000376694 human ensembl 74_37 +1 known silent c.486 p.I162 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM15 HGNC ENSG00000204610 tier1 - - 35 0 0.00 37 6 13.95 TRIOBP 0 genome.wustl.edu 37 22 38134718 38134718 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 38134718 38134718 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.5176 p.A1726T 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 56 0 0.00 56 4 6.67 TRRAP 0 genome.wustl.edu 37 7 98515126 98515126 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 98515126 98515126 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2446 p.R816W 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 46 0 0.00 54 3 5.26 TUFT1 0 genome.wustl.edu 37 1 151547394 151547394 + Missense_Mutation SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 151547394 151547394 A G SNP TUFT1 ENST00000538902 human ensembl 74_37 +1 known missense c.788 p.Q263R 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors TUFT1 HGNC ENSG00000143367 36 0 0.00 47 3 6.00 UBAP2L 0 genome.wustl.edu 37 1 154199782 154199782 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 1 154199782 154199782 G A SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.115 p.A39T 1.000 superfamily_UBA-like pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 tier1 - - 64 0 0.00 68 4 5.56 UBE3C 0 genome.wustl.edu 37 7 156979534 156979534 + Missense_Mutation SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 156979534 156979534 G A SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1150 p.G384S 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 tier1 - - 83 0 0.00 55 15 21.43 UBQLNL 0 genome.wustl.edu 37 11 5537115 5537115 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 5537115 5537115 G T SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.557 p.S186Y 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 10 0 0.00 9 4 30.77 UFL1 0 genome.wustl.edu 37 6 96986512 96986512 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 6 96986512 96986512 G A SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known silent c.984 p.L328 0.997 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 tier1 - - 40 0 0.00 7 7 50.00 WDR91 0 genome.wustl.edu 37 7 134882799 134882799 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 134882799 134882799 G T SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known silent c.996 p.R332 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 tier1 - - 51 0 0.00 31 10 24.39 XIRP1 0 genome.wustl.edu 37 3 39228955 39228958 + Frame_Shift_Del DEL TGTC TGTC - TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 3 39228955 39228958 TGTC - DEL XIRP1 ENST00000340369 human ensembl 74_37 -1 known frame_shift_del c.1982_1979 p.R660fs 0.972:0.971:0.398:0.360 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 55 0 0.00 28 2 6.67 XPNPEP2 0 genome.wustl.edu 37 X 128881662 128881662 + Silent SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 X 128881662 128881662 G T SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known silent c.570 p.L190 0.791 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 tier1 - - 62 0 0.00 50 7 12.28 YAE1D1 0 genome.wustl.edu 37 7 39611882 39611882 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 39611882 39611882 G A SNP YAE1D1 ENST00000223273 human ensembl 74_37 +1 known silent c.258 p.L86 1.000 NULL pfam_Essential_protein_Yae1_N - no_errors YAE1D1 HGNC ENSG00000241127 tier1 - - 66 0 0.00 65 4 5.80 YLPM1 0 genome.wustl.edu 37 14 75265987 75265987 + Silent SNP A A G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 14 75265987 75265987 A G SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.3987 p.P1329 0.723 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 41 0 0.00 41 4 8.89 ZCCHC14 0 genome.wustl.edu 37 16 87453397 87453397 + Missense_Mutation SNP T T C TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 87453397 87453397 T C SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.626 p.Q209R 0.998 superfamily_Phox pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 tier1 - - 84 0 0.00 69 4 5.48 ZNF135 0 genome.wustl.edu 37 19 58578877 58578877 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 58578877 58578877 C A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.1097 p.T366N 0.020 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF135 HGNC ENSG00000176293 tier1 - - 67 0 0.00 44 8 15.38 ZNF23 0 genome.wustl.edu 37 16 71481938 71481939 + RNA INS - - A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 16 71481938 71481939 - A INS ZNF23 ENST00000539742 human ensembl 74_37 -1 known rna NULL NULL 0.090:0.080 - - - no_errors ZNF23 HGNC ENSG00000167377 tier1 35 0 0.00 10 2 16.67 ZNF479 0 genome.wustl.edu 37 7 57188226 57188226 + Missense_Mutation SNP C C G TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 57188226 57188226 C G SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.896 p.C299S 0.746 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 tier1 - - 130 0 0.00 114 7 5.79 ZNF70 0 genome.wustl.edu 37 22 24086332 24086332 + Silent SNP G G A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 22 24086332 24086332 G A SNP ZNF70 ENST00000341976 human ensembl 74_37 -1 known silent c.996 p.G332 0.976 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF70 HGNC ENSG00000187792 tier1 - - 56 0 0.00 35 10 22.22 ZNF772 0 genome.wustl.edu 37 19 57986507 57986507 + Silent SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 57986507 57986507 T A SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.207 p.T69 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF772 HGNC ENSG00000197128 tier1 - - 47 0 0.00 36 9 20.00 ZNF804B 0 genome.wustl.edu 37 7 88962978 88962978 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 7 88962978 88962978 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.682 p.H228N 0.974 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 35 0 0.00 19 9 32.14 ZNF836 0 genome.wustl.edu 37 19 52659498 52659498 + Missense_Mutation SNP T T A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 19 52659498 52659498 T A SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.1438 p.S480C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 tier1 - - 67 0 0.00 61 20 24.69 ZP1 0 genome.wustl.edu 37 11 60640738 60640738 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 11 60640738 60640738 C T SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.1216 p.R406W 0.076 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 44 0 0.00 31 2 6.06 ZSWIM8 0 genome.wustl.edu 37 10 75548436 75548436 + Missense_Mutation SNP G G T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 10 75548436 75548436 G T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.217 p.V73L 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 75 0 0.00 47 4 7.84 ZZEF1 0 genome.wustl.edu 37 17 3978660 3978660 + Missense_Mutation SNP C C A TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36c2d17a-9fa6-4389-94bb-fcdeb71361c6 869d84b3-0323-4628-b475-37ce31d22d02 17 3978660 3978660 C A SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.3298 p.A1100S 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 98 0 0.00 54 16 22.86