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 CD101 0 genome.wustl.edu 37 1 117564313 117564313 + Missense_Mutation SNP T T G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 117564313 117564313 T G SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.2136 p.I712M 0.972 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 53 0 0 17 6 26.087 TTF2 0 genome.wustl.edu 37 1 117641498 117641498 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 117641498 117641498 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.3313 p.V1105I 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 93 0 0 58 15 20.5479 HRNR 0 genome.wustl.edu 37 1 152188964 152188964 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 152188964 152188964 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5141 p.S1714N 0.006 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 23 0 0 35 9 20.4545 ADAR 0 genome.wustl.edu 37 1 154574725 154574725 + Splice_Site SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 154574725 154574725 C T SNP ADAR ENST00000494866 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.812 - - - no_errors ADAR HGNC ENSG00000160710 98 0 0 75 44 36.9748 NES 0 genome.wustl.edu 37 1 156640925 156640925 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 156640925 156640925 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.3055 p.P1019S 0.154 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 398 1 0.250627 253 129 33.7696 FBLIM1 0 genome.wustl.edu 37 1 16097029 16097029 + Missense_Mutation SNP T T A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 16097029 16097029 T A SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known missense c.667 p.F223I 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 84 0 0 38 38 50 FCRLA 0 genome.wustl.edu 37 1 161681106 161681106 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 161681106 161681106 G A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.410 p.R137Q 1.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 67 0 0 61 30 32.967 CACNA1E 0 genome.wustl.edu 37 1 181724521 181724521 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 181724521 181724521 A G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3977 p.E1326G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 136 0 0 198 32 13.913 HMCN1 0 genome.wustl.edu 37 1 186057323 186057323 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 186057323 186057323 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.9492 p.T3164 0.047 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 37 0 0 33 15 31.25 NAV1 0 genome.wustl.edu 37 1 201778646 201778646 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 201778646 201778646 C A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.4382 p.A1461D 0.999 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 35 0 0 33 2 5.71429 EPRS 0 genome.wustl.edu 37 1 220206907 220206907 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 220206907 220206907 T C SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.325 p.R109G 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 72 0 0 40 25 38.4615 DISC1 0 genome.wustl.edu 37 1 231858321 231858321 + Nonsense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 231858321 231858321 C T SNP DISC1 ENST00000317586 human ensembl 74_37 +1 known nonsense c.1084 p.R362* 0.000 NULL NULL - no_errors DISC1 HGNC ENSG00000162946 37 0 0 33 19 36.5385 TARBP1 0 genome.wustl.edu 37 1 234564922 234564922 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 234564922 234564922 G A SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.3020 p.A1007V 1.000 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 34 0 0 55 12 17.9104 PLCH2 0 genome.wustl.edu 37 1 2428074 2428074 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 2428074 2428074 C A SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.1864 p.L622M 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 29 0 0 28 3 9.67742 OR2AK2 0 genome.wustl.edu 37 1 248128933 248128933 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 248128933 248128933 C T SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known silent c.300 p.F100 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 176 0 0 90 79 46.7456 SLC6A9 0 genome.wustl.edu 37 1 44476517 44476517 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 44476517 44476517 T C SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.287 p.Q96R 1.000 prints_Na/ntran_symport_glycine_GLY1 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 109 0 0 72 24 25 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 32 0 0 31 3 8.82353 RET 0 genome.wustl.edu 37 10 43622117 43622117 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 10 43622117 43622117 A G SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.3134 p.N1045S 1.000 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 125 0 0 75 39 34.2105 ENSG00000243349 0 genome.wustl.edu 37 10 45652235 45652235 + RNA SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 10 45652235 45652235 C G SNP ENSG00000243349 ENST00000427229 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors RP11-445N18.7 Clone_based_vega_gene ENSG00000243349 22 0 0 22 5 18.5185 UNC5B 0 genome.wustl.edu 37 10 73053609 73053609 + Silent SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 10 73053609 73053609 C G SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known silent c.2094 p.A698 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 38 0 0 44 8 15.3846 SIK2 0 genome.wustl.edu 37 11 111572256 111572256 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 111572256 111572256 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.684 p.R228 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 99 0 0 86 21 19.6262 PLEKHA7 0 genome.wustl.edu 37 11 16812631 16812631 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 16812631 16812631 C T SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.2864 p.R955Q 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 72 0 0 48 39 44.8276 ANO3 0 genome.wustl.edu 37 11 26677708 26677708 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 26677708 26677708 C A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2613 p.F871L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 40 0 0 58 13 18.3099 IFITM2 0 genome.wustl.edu 37 11 309014 309014 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 309014 309014 C G SNP IFITM2 ENST00000399817 human ensembl 74_37 +1 known missense c.248 p.S83C 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM2 HGNC ENSG00000185201 50 0 0 22 9 29.0323 ZNF195 0 genome.wustl.edu 37 11 3381526 3381526 + Missense_Mutation SNP T T A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 3381526 3381526 T A SNP ZNF195 ENST00000399602 human ensembl 74_37 -1 known missense c.712 p.N238Y 0.045 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ENSG00000005801 28 0 0 21 6 22.2222 MADD 0 genome.wustl.edu 37 11 47330175 47330175 + Nonsense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 47330175 47330175 G T SNP MADD ENST00000311027 human ensembl 74_37 +1 known nonsense c.3793 p.E1265* 1.000 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 MADD HGNC ENSG00000110514 48 0 0 37 8 17.7778 OR4B1 0 genome.wustl.edu 37 11 48238439 48238439 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 48238439 48238439 T C SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known silent c.78 p.F26 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 117 0 0 103 19 15.5738 OR4A16 0 genome.wustl.edu 37 11 55110764 55110764 + Missense_Mutation SNP T T G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 55110764 55110764 T G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.88 p.L30V 0.068 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 72 0 0 83 14 14.433 OR10AG1 0 genome.wustl.edu 37 11 55735801 55735801 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 55735801 55735801 G T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.139 p.Q47K 0.915 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 62 0 0 89 18 16.8224 MED19 0 genome.wustl.edu 37 11 57472643 57472643 + Silent SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 57472643 57472643 G C SNP MED19 ENST00000431606 human ensembl 74_37 -1 known silent c.276 p.A92 1.000 pfam_Mediator_Med19_met pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 61 0 0 60 13 17.8082 CNGA4 0 genome.wustl.edu 37 11 6265554 6265554 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 6265554 6265554 C G SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1643 p.A548G 0.844 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 46 0 0 20 24 54.5455 GOLGA2P5 0 genome.wustl.edu 37 12 100550470 100550470 + RNA SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 100550470 100550470 A T SNP GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 0.808 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 35 0 0 26 5 16.129 SYCP3 0 genome.wustl.edu 37 12 102122964 102122964 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 102122964 102122964 C T SNP SYCP3 ENST00000266743 human ensembl 74_37 -1 known missense c.580 p.D194N 1.000 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 19 0 0 24 7 22.5806 OAS3 0 genome.wustl.edu 37 12 113388664 113388664 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 113388664 113388664 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.1541 p.S514N 0.002 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 95 0 0 72 20 21.7391 HSPB8 0 genome.wustl.edu 37 12 119624826 119624826 + RNA SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 119624826 119624826 C A SNP HSPB8 ENST00000542496 human ensembl 74_37 +1 putative rna NULL NULL 0.972 - - - no_errors HSPB8 HGNC ENSG00000152137 65 0 0 98 13 11.7117 ANAPC5 0 genome.wustl.edu 37 12 121768393 121768393 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 121768393 121768393 C A SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.1115 p.G372V 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 47 0 0 47 18 27.6923 KNTC1 0 genome.wustl.edu 37 12 123068996 123068996 + Silent SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 123068996 123068996 A C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.3435 p.P1145 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 55 0 0 26 21 44.6809 EP400 0 genome.wustl.edu 37 12 132547093 132547093 + Silent SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 132547093 132547093 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8289 p.Q2763 0.900 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 73 0 0 89 6 6.31579 CMAS 0 genome.wustl.edu 37 12 22208520 22208520 + Nonsense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 22208520 22208520 C T SNP CMAS ENST00000229329 human ensembl 74_37 +1 known nonsense c.535 p.R179* 1.000 pfam_Cytidylyl_trans pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 47 0 0 28 10 26.3158 ITPR2 0 genome.wustl.edu 37 12 26868707 26868707 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 26868707 26868707 T C SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.686 p.Y229C 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 45 0 0 27 11 28.9474 ANO6 0 genome.wustl.edu 37 12 45610058 45610058 + RNA SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 45610058 45610058 G C SNP ANO6 ENST00000426898 human ensembl 74_37 +1 known rna NULL NULL 0.901 - - - no_errors ANO6 HGNC ENSG00000177119 15 0 0 8 4 33.3333 KRT76 0 genome.wustl.edu 37 12 53170704 53170704 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 53170704 53170704 T C SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.372 p.G124 0.152 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 49 0 0 40 9 18.3673 KRT76 0 genome.wustl.edu 37 12 53170707 53170707 + Silent SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 53170707 53170707 A T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.369 p.G123 0.042 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 47 0 0 43 10 18.8679 ORMDL2 0 genome.wustl.edu 37 12 56214131 56214131 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 56214131 56214131 G C SNP ORMDL2 ENST00000243045 human ensembl 74_37 +1 known missense c.414 p.K138N 0.997 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL2 HGNC ENSG00000123353 138 0 0 108 23 17.5573 NABP2 0 genome.wustl.edu 37 12 56622875 56622875 + Missense_Mutation SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 12 56622875 56622875 T C SNP NABP2 ENST00000267023 human ensembl 74_37 +1 known missense c.514 p.S172P 0.215 NULL pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors NABP2 HGNC ENSG00000139579 41 0 0 23 17 42.5 GPC6 0 genome.wustl.edu 37 13 95050872 95050872 + Missense_Mutation SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 13 95050872 95050872 A T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.1442 p.N481I 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 38 0 0 35 26 42.623 CEP170B 0 genome.wustl.edu 37 14 105353627 105353627 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 14 105353627 105353627 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.3054 p.P1018 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 48 0 0 12 15 55.5556 POTEM 0 genome.wustl.edu 37 14 20002286 20002286 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 14 20002286 20002286 A G SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.1136 p.L379S 0.021 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 20 0 0 17 4 19.0476 TC2N 0 genome.wustl.edu 37 14 92264149 92264149 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 14 92264149 92264149 A C SNP TC2N ENST00000340892 human ensembl 74_37 -1 known missense c.835 p.S279A 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors TC2N HGNC ENSG00000165929 46 0 0 29 15 34.0909 LRRK1 0 genome.wustl.edu 37 15 101566255 101566255 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 15 101566255 101566255 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.2318 p.T773M 0.987 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 76 0 0 92 15 14.0187 LOC101927079 0 genome.wustl.edu 37 15 22332468 22332468 + RNA SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 15 22332468 22332468 T C SNP LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 144 0 0 115 8 6.50407 FBN1 0 genome.wustl.edu 37 15 48779557 48779557 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 15 48779557 48779557 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.3415 p.E1139K 0.988 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 128 0 0 120 10 7.69231 MYO5A 0 genome.wustl.edu 37 15 52664321 52664321 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 15 52664321 52664321 C T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known silent c.2817 p.Q939 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 82 0 0 57 18 24 CIB1 0 genome.wustl.edu 37 15 90775542 90775542 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 15 90775542 90775542 C A SNP CIB1 ENST00000328649 human ensembl 74_37 -1 known missense c.104 p.C35F 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB1 HGNC ENSG00000185043 75 0 0 60 37 38.1443 OTOA 0 genome.wustl.edu 37 16 21716356 21716356 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 16 21716356 21716356 C T SNP OTOA ENST00000388957 human ensembl 74_37 +1 known silent c.6 p.F2 0.056 NULL NULL - no_errors OTOA HGNC ENSG00000155719 237 1 0.420168 239 45 15.8451 NPIPB4 0 genome.wustl.edu 37 16 21848641 21848641 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 16 21848641 21848641 G A SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.1067 p.P356L 0.084 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 53 0 0 54 13 19.403 MYLPF 0 genome.wustl.edu 37 16 30387532 30387532 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 16 30387532 30387532 G A SNP MYLPF ENST00000322861 human ensembl 74_37 +1 known missense c.163 p.A55T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYLPF HGNC ENSG00000180209 70 0 0 78 15 16.129 CDH8 0 genome.wustl.edu 37 16 61851482 61851482 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 16 61851482 61851482 G A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1178 p.S393L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 64 0 0 48 7 12.7273 CDH8 0 genome.wustl.edu 37 16 61851483 61851483 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 16 61851483 61851483 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1177 p.S393P 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 64 0 0 49 7 12.5 NUDT7 0 genome.wustl.edu 37 16 77775522 77775522 + Missense_Mutation SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 16 77775522 77775522 A T SNP NUDT7 ENST00000268533 human ensembl 74_37 +1 known missense c.392 p.N131I 0.591 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 56 0 0 37 18 32.7273 PRPF8 0 genome.wustl.edu 37 17 1579329 1579329 + Nonsense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 1579329 1579329 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known nonsense c.2572 p.Q858* 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 75 0 0 52 34 39.5349 C17orf76-AS1 0 genome.wustl.edu 37 17 16343497 16343497 + Splice_Site SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 16343497 16343497 A G SNP C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.176 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 75 0 0 27 14 34.1463 EVI2B 0 genome.wustl.edu 37 17 29631855 29631855 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 29631855 29631855 C G SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known missense c.818 p.R273T 0.732 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 68 0 0 33 34 50.7463 MED24 0 genome.wustl.edu 37 17 38185183 38185183 + Silent SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 38185183 38185183 C A SNP MED24 ENST00000394128 human ensembl 74_37 -1 known silent c.1305 p.L435 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 125 0 0 54 20 27.027 METTL2A 0 genome.wustl.edu 37 17 60525117 60525117 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 60525117 60525117 C G SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known missense c.972 p.F324L 1.000 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 235 0 0 177 40 18.4332 MGAT5B 0 genome.wustl.edu 37 17 74944785 74944785 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 74944785 74944785 G C SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.2271 p.Q757H 1.000 superfamily_PyrdxlP-dep_Trfase superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 26 0 0 29 2 6.45161 TP53 0 genome.wustl.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 7577548 7577548 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.733 p.G245S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 83 0 0 29 58 66.6667 AATK 0 genome.wustl.edu 37 17 79095381 79095381 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 79095381 79095381 C A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.2355 p.E785D 0.008 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 27 0 0 20 2 9.09091 NPLOC4 0 genome.wustl.edu 37 17 79573783 79573783 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 17 79573783 79573783 C T SNP NPLOC4 ENST00000374747 human ensembl 74_37 -1 known silent c.588 p.G196 0.241 pfam_NPL4_Zn-bd_put,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 44 0 0 46 14 23.3333 COLEC12 0 genome.wustl.edu 37 18 357517 357517 + Nonsense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 18 357517 357517 G A SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known nonsense c.64 p.Q22* 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 21 0 0 41 9 18 NFKBIB 0 genome.wustl.edu 37 19 39390817 39390817 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 19 39390817 39390817 C G SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known missense c.145 p.L49V 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIB HGNC ENSG00000104825 13 0 0 20 6 23.0769 PSG3 0 genome.wustl.edu 37 19 43234168 43234168 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 19 43234168 43234168 G T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.750 p.N250K 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 221 0 0 140 30 17.6471 NLRP13 0 genome.wustl.edu 37 19 56423693 56423693 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 19 56423693 56423693 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.1490 p.T497M 0.029 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 67 0 0 37 14 27.451 MUC16 0 genome.wustl.edu 37 19 9066002 9066002 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 19 9066002 9066002 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.21444 p.V7148 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 124 0 0 87 7 7.44681 RANBP2 0 genome.wustl.edu 37 2 109382496 109382496 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 109382496 109382496 G C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.5501 p.G1834A 0.778 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 106 0 0 52 17 24.6377 SLC4A10 0 genome.wustl.edu 37 2 162719476 162719476 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 162719476 162719476 C A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.670 p.Q224K 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 19 0 0 24 9 27.2727 TTN 0 genome.wustl.edu 37 2 179424095 179424095 + Nonsense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 179424095 179424095 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.79060 p.E26354* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 88 0 0 118 31 20.8054 COL4A4 0 genome.wustl.edu 37 2 227917059 227917059 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 227917059 227917059 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2930 p.P977L 0.987 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 48 0 0 25 11 30.5556 ENSG00000234072 0 genome.wustl.edu 37 2 27590438 27590438 + RNA SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 27590438 27590438 C T SNP ENSG00000234072 ENST00000412749 human ensembl 74_37 +1 known rna NULL NULL 0.190 - - - no_errors AC074117.10 Clone_based_vega_gene ENSG00000234072 72 0 0 57 19 25 EIF2AK3 0 genome.wustl.edu 37 2 88883033 88883033 + Nonsense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 88883033 88883033 G A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known nonsense c.1678 p.Q560* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 46 0 0 69 15 17.8571 SPTLC3 0 genome.wustl.edu 37 20 13134714 13134714 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 20 13134714 13134714 G C SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1344 p.M448I 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 57 0 0 72 10 12.1951 PCSK2 0 genome.wustl.edu 37 20 17341186 17341186 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 20 17341186 17341186 G T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.406 p.G136W 1.000 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 17 0 0 17 4 19.0476 TMC2 0 genome.wustl.edu 37 20 2582792 2582792 + Nonsense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 20 2582792 2582792 G T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known nonsense c.1258 p.E420* 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 54 0 0 59 13 18.0556 CHD6 0 genome.wustl.edu 37 20 40044276 40044276 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 20 40044276 40044276 C G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6489 p.E2163D 0.994 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 38 0 0 43 6 12.2449 EDN3 0 genome.wustl.edu 37 20 57899407 57899407 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 20 57899407 57899407 A G SNP EDN3 ENST00000337938 human ensembl 74_37 +1 known missense c.610 p.S204G 0.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 198 0 0 195 34 14.8472 AGPAT3 0 genome.wustl.edu 37 21 45391318 45391318 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 21 45391318 45391318 G A SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known silent c.714 p.P238 0.182 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 173 1 0.574713 171 153 47.2222 ENSG00000207834 0 genome.wustl.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 22 23006960 23006960 C A SNP ENSG00000207834 ENST00000385099 human ensembl 74_37 +1 novel rna NULL NULL 0.876 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000207834 9 0 0 10 3 23.0769 ENSG00000207834 0 genome.wustl.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 22 23006961 23006961 C T SNP ENSG00000207834 ENST00000385099 human ensembl 74_37 +1 novel rna NULL NULL 0.759 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000207834 9 0 0 10 3 23.0769 POM121L9P 0 genome.wustl.edu 37 22 24659741 24659741 + RNA SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 22 24659741 24659741 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 26 0 0 17 3 15 APOL2 0 genome.wustl.edu 37 22 36624263 36624263 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 22 36624263 36624263 G T SNP APOL2 ENST00000249066 human ensembl 74_37 -1 known missense c.201 p.D67E 0.001 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 182 0 0 87 67 43.5065 TRIOBP 0 genome.wustl.edu 37 22 38130970 38130970 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 22 38130970 38130970 G C SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.4627 p.G1543R 0.932 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 128 0 0 38 41 51.8987 SCUBE1 0 genome.wustl.edu 37 22 43600117 43600117 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 22 43600117 43600117 C T SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.2853 p.A951 0.035 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 108 0 0 52 25 32.4675 SI 0 genome.wustl.edu 37 3 164750331 164750331 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 164750331 164750331 G T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.2715 p.F905L 0.136 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 38 0 0 52 13 20 SLC7A14 0 genome.wustl.edu 37 3 170198405 170198405 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 170198405 170198405 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1666 p.R556W 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 90 0 0 48 45 48.3871 MRPL47 0 genome.wustl.edu 37 3 179311619 179311619 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 179311619 179311619 A C SNP MRPL47 ENST00000476781 human ensembl 74_37 -1 known missense c.467 p.L156R 1.000 NULL pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 75 0 0 83 6 6.74157 TP63 0 genome.wustl.edu 37 3 189607201 189607201 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 189607201 189607201 C T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.1580 p.P527L 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 98 0 0 99 34 25.5639 FYTTD1 0 genome.wustl.edu 37 3 197501044 197501044 + Missense_Mutation SNP C C G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 197501044 197501044 C G SNP FYTTD1 ENST00000241502 human ensembl 74_37 +1 known missense c.619 p.Q207E 1.000 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 83 0 0 91 16 14.9533 SCN10A 0 genome.wustl.edu 37 3 38781019 38781019 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 38781019 38781019 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2267 p.R756Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 66 0 0 34 11 24.4444 SCN11A 0 genome.wustl.edu 37 3 38913761 38913761 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 38913761 38913761 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3418 p.L1140V 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 105 0 0 67 30 30.9278 ITPR1 0 genome.wustl.edu 37 3 4709210 4709210 + Silent SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 4709210 4709210 G T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.1818 p.L606 0.718 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 38 0 0 27 2 6.89655 COL7A1 0 genome.wustl.edu 37 3 48623397 48623397 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 3 48623397 48623397 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.3735 p.E1245 0.213 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 150 0 0 77 18 18.9474 CENPE 0 genome.wustl.edu 37 4 104067005 104067005 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 4 104067005 104067005 A G SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.4394 p.I1465T 0.003 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 43 0 0 35 11 23.913 MYOZ2 0 genome.wustl.edu 37 4 120072095 120072095 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 4 120072095 120072095 C T SNP MYOZ2 ENST00000307128 human ensembl 74_37 +1 known missense c.145 p.H49Y 0.988 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 69 0 0 62 14 18.4211 MARCH1 0 genome.wustl.edu 37 4 164466760 164466760 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 4 164466760 164466760 C T SNP MARCH1 ENST00000274056 human ensembl 74_37 -1 known missense c.559 p.G187S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 69 0 0 64 6 8.57143 NIPAL1 0 genome.wustl.edu 37 4 48037691 48037691 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 4 48037691 48037691 G A SNP NIPAL1 ENST00000295461 human ensembl 74_37 +1 known silent c.735 p.L245 0.993 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 93 0 0 75 16 17.5824 PCDHA13 0 genome.wustl.edu 37 5 140263750 140263750 + Missense_Mutation SNP A A T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 5 140263750 140263750 A T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1897 p.T633S 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 193 0 0 129 38 22.7545 FAT2 0 genome.wustl.edu 37 5 150947107 150947107 + Silent SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 5 150947107 150947107 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.1386 p.S462 0.860 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 99 0 0 92 24 20.6897 PRDM9 0 genome.wustl.edu 37 5 23524503 23524503 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 5 23524503 23524503 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1011 p.R337S 0.847 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 58 0 0 34 14 29.1667 RICTOR 0 genome.wustl.edu 37 5 39002671 39002671 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 5 39002671 39002671 C A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.358 p.V120L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 96 0 0 80 25 23.8095 SOBP 0 genome.wustl.edu 37 6 107956313 107956313 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 6 107956313 107956313 G A SNP SOBP ENST00000317357 human ensembl 74_37 +1 known silent c.2265 p.K755 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 26 0 0 17 6 26.087 HEY2 0 genome.wustl.edu 37 6 126080831 126080831 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 6 126080831 126080831 G A SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known silent c.897 p.A299 0.000 prints_Antifreeze_1 pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 241 0 0 88 54 38.0282 MOXD1 0 genome.wustl.edu 37 6 132636888 132636888 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 6 132636888 132636888 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1394 p.C465Y 1.000 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 75 0 0 42 12 22.2222 HLA-G 0 genome.wustl.edu 37 6 29795915 29795915 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 6 29795915 29795915 G A SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known silent c.180 p.T60 0.902 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 46 0 0 67 25 27.1739 FGD2 0 genome.wustl.edu 37 6 36978786 36978786 + Missense_Mutation SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 6 36978786 36978786 C T SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known missense c.338 p.T113I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 81 0 0 104 17 14.0496 CUX1 0 genome.wustl.edu 37 7 101839960 101839960 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 7 101839960 101839960 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.1302 p.P434 0.999 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 114 0 0 237 20 7.7821 THSD7A 0 genome.wustl.edu 37 7 11630118 11630118 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 7 11630118 11630118 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.1422 p.L474 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 51 0 0 121 16 11.6788 DNAH11 0 genome.wustl.edu 37 7 21598510 21598510 + Missense_Mutation SNP A A G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 7 21598510 21598510 A G SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.586 p.K196E 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 9 0 0 23 12 34.2857 GLI3 0 genome.wustl.edu 37 7 42116408 42116408 + Missense_Mutation SNP G G T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 7 42116408 42116408 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.416 p.A139D 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 59 0 0 48 10 17.2414 ZSCAN25 0 genome.wustl.edu 37 7 99227574 99227574 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 7 99227574 99227574 C T SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known silent c.1566 p.S522 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 27 0 0 31 45 59.2105 TBC1D31 0 genome.wustl.edu 37 8 124138363 124138363 + Missense_Mutation SNP A A C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 8 124138363 124138363 A C SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.1638 p.E546D 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 36 0 0 64 13 16.8831 WISP1 0 genome.wustl.edu 37 8 134239806 134239806 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 8 134239806 134239806 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.957 p.D319 0.000 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 110 0 0 104 20 16.129 COL22A1 0 genome.wustl.edu 37 8 139833387 139833387 + Missense_Mutation SNP G G C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 8 139833387 139833387 G C SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1237 p.P413A 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 55 0 0 44 8 15.3846 TUSC3 0 genome.wustl.edu 37 8 15519792 15519792 + Missense_Mutation SNP C C A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 8 15519792 15519792 C A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.695 p.A232D 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 100 0 0 82 21 20.3883 SCARA5 0 genome.wustl.edu 37 8 27729526 27729526 + Silent SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 8 27729526 27729526 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known silent c.1413 p.R471 0.999 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 91 0 0 71 16 18.3908 FABP12 0 genome.wustl.edu 37 8 82441753 82441753 + Missense_Mutation SNP T T A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 8 82441753 82441753 T A SNP FABP12 ENST00000360464 human ensembl 74_37 -1 known missense c.166 p.S56C 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP12 HGNC ENSG00000197416 61 0 0 68 15 18.0723 OBP2A 0 genome.wustl.edu 37 9 138440642 138440642 + Missense_Mutation SNP G G A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 9 138440642 138440642 G A SNP OBP2A ENST00000340780 human ensembl 74_37 +1 known missense c.542 p.C181Y 0.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 86 0 0 60 14 18.9189 ARSF 0 genome.wustl.edu 37 X 3002363 3002363 + Silent SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 X 3002363 3002363 C T SNP ARSF ENST00000359361 human ensembl 74_37 +1 known silent c.486 p.Y162 0.999 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 57 0 0 47 14 22.9508 MAGEB3 0 genome.wustl.edu 37 X 30254929 30254929 + Silent SNP T T C TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 X 30254929 30254929 T C SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known silent c.888 p.N296 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 41 0 0 13 24 64.8649 ENSG00000211526 0 genome.wustl.edu 37 X 91715518 91715518 + RNA SNP C C T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 X 91715518 91715518 C T SNP ENSG00000211526 ENST00000390192 human ensembl 74_37 +1 novel rna NULL NULL 0.839 - - - no_errors AL121869.1 Clone_based_ensembl_gene ENSG00000211526 10 0 0 14 5 26.3158 ARID1A 0 genome.wustl.edu 37 1 27057803 27057804 + Frame_Shift_Del DEL CA CA - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 27057803 27057804 CA - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.1511_1512 p.Q505fs 0.663:0.049 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 522 1 0.191205 366 134 26.8 FAM41C 0 genome.wustl.edu 37 1 809752 809753 + RNA INS - - T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 1 809752 809753 - T INS FAM41C ENST00000446136 human ensembl 74_37 -1 known rna NULL NULL 0.949:0.945 - - - no_errors FAM41C HGNC ENSG00000230368 111 0 0 140 37 20.904 ECD 0 genome.wustl.edu 37 10 74914192 74914193 + Frame_Shift_Ins INS - - T TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 10 74914192 74914193 - T INS ECD ENST00000430082 human ensembl 74_37 -1 known frame_shift_ins c.605_604 p.I202fs 0.969:0.973 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 39 0 0 151 15 9.03614 MUC6 0 genome.wustl.edu 37 11 1016412 1016414 + In_Frame_Del DEL GAG GAG - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 11 1016412 1016414 GAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6389_6387 p.S2130in_frame_del 0.002:0.002:0.018 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 52 0 0 41 10 19.6078 DLX2 0 genome.wustl.edu 37 2 172967129 172967131 + In_Frame_Del DEL GCT GCT - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 2 172967129 172967131 GCT - DEL DLX2 ENST00000234198 human ensembl 74_37 -1 known in_frame_del c.138_136 p.S46in_frame_del 0.998:1.000:1.000 NULL pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 10 0 0 11 2 15.3846 SPTLC3 0 genome.wustl.edu 37 20 13134709 13134710 + Frame_Shift_Ins INS - - A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 20 13134709 13134710 - A INS SPTLC3 ENST00000399002 human ensembl 74_37 +1 known frame_shift_ins c.1339_1340 p.M448fs 0.259:0.995 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 60 0 0 85 8 8.60215 LCA5L 0 genome.wustl.edu 37 21 40800395 40800395 + Frame_Shift_Del DEL T T - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 21 40800395 40800395 T - DEL LCA5L ENST00000288350 human ensembl 74_37 -1 known frame_shift_del c.25 p.T9fs 0.000 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 56 0 0 118 14 10.6061 PITX1 0 genome.wustl.edu 37 5 134364978 134364979 + Frame_Shift_Ins INS - - A TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 5 134364978 134364979 - A INS PITX1 ENST00000265340 human ensembl 74_37 -1 known frame_shift_ins c.436_435 p.K145fs 1.000:1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX1 HGNC ENSG00000069011 170 0 0 85 47 35.6061 BYSL 0 genome.wustl.edu 37 6 41889329 41889330 + Frame_Shift_Ins INS - - G TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 6 41889329 41889330 - G INS BYSL ENST00000230340 human ensembl 74_37 +1 known frame_shift_ins c.29_30 p.Q13fs 0.974:0.110 NULL pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 59 0 0 63 11 14.8649 IKBKAP 0 genome.wustl.edu 37 9 111640313 111640313 + Frame_Shift_Del DEL T T - TCGA-FP-8631-01A-11D-2394-08 TCGA-FP-8631-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b6b2897-e3b5-4ede-ad77-9a16afcc575b f3ffe320-f841-4be7-ba82-a5ff6c38ebb1 9 111640313 111640313 T - DEL IKBKAP ENST00000374647 human ensembl 74_37 -1 known frame_shift_del c.3817 p.I1273fs 1.000 pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 46 0 0 48 14 22.5806