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 ABLIM2 0 genome.wustl.edu 37 4 8082515 8082515 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 4 8082515 8082515 C T SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.469 p.G157S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 64 0 0.00 45 4 8.16 ACSM2A 0 genome.wustl.edu 37 16 20492161 20492161 + Nonsense_Mutation SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 20492161 20492161 C A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known nonsense c.1427 p.S476* 0.996 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 55 0 0.00 72 30 29.41 ADAMTSL1 0 genome.wustl.edu 37 9 18662027 18662027 + Silent SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 18662027 18662027 C A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known silent c.1041 p.P347 0.999 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 124 0 0.00 66 31 31.96 ADORA1 0 genome.wustl.edu 37 1 203098170 203098170 + Silent SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 203098170 203098170 C A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.201 p.I67 1.000 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_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 tier1 - - 154 0 0.00 122 35 22.29 AK5 0 genome.wustl.edu 37 1 77984335 77984335 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 77984335 77984335 C T SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.1234 p.R412C 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 53 0 0.00 32 8 20.00 ALX1 0 genome.wustl.edu 37 12 85695042 85695042 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 12 85695042 85695042 G T SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.770 p.R257L 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 tier1 - - 107 0 0.00 87 5 5.43 ANGPTL7 0 genome.wustl.edu 37 1 11252386 11252386 + Missense_Mutation SNP A A C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 11252386 11252386 A C SNP ANGPTL7 ENST00000376819 human ensembl 74_37 +1 known missense c.436 p.K146Q 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL7 HGNC ENSG00000171819 tier1 - - 212 0 0.00 150 45 23.08 ANKRD30B 0 genome.wustl.edu 37 18 14752926 14752926 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 18 14752926 14752926 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.425 p.A142V 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_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 - no_errors ANKRD30B HGNC ENSG00000180777 17 0 0.00 11 4 26.67 AR 0 genome.wustl.edu 37 X 66905852 66905852 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 X 66905852 66905852 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.1769 p.G590E 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 42 0 0.00 17 9 34.62 ATF6B 0 genome.wustl.edu 37 6 32084298 32084298 + Missense_Mutation SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 6 32084298 32084298 C A SNP ATF6B ENST00000375203 human ensembl 74_37 -1 known missense c.1841 p.R614L 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 tier1 - - 46 0 0.00 47 4 7.84 ATG9B 0 genome.wustl.edu 37 7 150713826 150713826 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 150713826 150713826 C T SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known silent c.2370 p.A790 0.033 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 tier1 - - 32 0 0.00 15 14 48.28 AZGP1P1 0 genome.wustl.edu 37 7 99581047 99581047 + RNA SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 99581047 99581047 C T SNP AZGP1P1 ENST00000425474 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors AZGP1P1 HGNC ENSG00000214313 tier1 - - 35 0 0.00 22 13 37.14 B3GNT6 0 genome.wustl.edu 37 11 76750677 76750677 + Missense_Mutation SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 76750677 76750677 C G SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known missense c.82 p.Q28E 0.001 NULL pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 tier1 - - 71 0 0.00 60 16 21.05 BAZ1B 0 genome.wustl.edu 37 7 72879830 72879830 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 72879830 72879830 G A SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.3010 p.L1004 0.994 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 tier1 - - 169 0 0.00 126 28 18.18 BCHE 0 genome.wustl.edu 37 3 165547596 165547596 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 3 165547596 165547596 C T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1226 p.R409K 0.915 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 80 0 0.00 35 15 30.00 C10orf90 0 genome.wustl.edu 37 10 128193333 128193333 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 10 128193333 128193333 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.727 p.R243C 0.983 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 79 0 0.00 43 15 25.86 C11orf40 0 genome.wustl.edu 37 11 4594657 4594657 + Missense_Mutation SNP A A C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 4594657 4594657 A C SNP C11orf40 ENST00000307616 human ensembl 74_37 -1 known missense c.187 p.L63V 0.001 NULL NULL - no_errors C11orf40 HGNC ENSG00000171987 tier1 - - 98 0 0.00 47 25 34.72 C11orf49 0 genome.wustl.edu 37 11 47159213 47159213 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 47159213 47159213 G A SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.298 p.E100K 0.994 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 tier1 - - 83 0 0.00 60 10 14.29 C5orf42 0 genome.wustl.edu 37 5 37142583 37142583 + Splice_Site SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 5 37142583 37142583 C A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known splice_site c.8300-1 e42-1 0.064 - - - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 100 0 0.00 56 35 38.46 CACNA1S 0 genome.wustl.edu 37 1 201061119 201061119 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 201061119 201061119 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.522 p.R174 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 - - 39 0 0.00 21 9 30.00 CALD1 0 genome.wustl.edu 37 7 134618000 134618000 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 134618000 134618000 C T SNP CALD1 ENST00000430085 human ensembl 74_37 +1 known missense c.251 p.T84M 0.000 NULL pfam_Caldesmon_LSP - no_errors CALD1 HGNC ENSG00000122786 tier1 rs113157290 - 20 0 0.00 14 5 26.32 CAPN10 0 genome.wustl.edu 37 2 241534522 241534522 + Missense_Mutation SNP G G C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 241534522 241534522 G C SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known missense c.1079 p.G360A 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 tier1 - - 105 0 0.00 116 13 10.08 CASR 0 genome.wustl.edu 37 3 122003626 122003628 + In_Frame_Del DEL AGC AGC - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 3 122003626 122003628 AGC - DEL CASR ENST00000498619 human ensembl 74_37 +1 known in_frame_del c.2855_2857 p.Q956in_frame_del 0.240:0.600:0.670 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 38 0 0.00 29 2 6.45 CBFA2T3 0 genome.wustl.edu 37 16 88951475 88951475 + Nonsense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 88951475 88951475 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known nonsense c.1096 p.R366* 0.969 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 - - 25 0 0.00 11 9 45.00 CDH19 0 genome.wustl.edu 37 18 64239434 64239434 + Missense_Mutation SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 18 64239434 64239434 C A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.8 p.C3F 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 95 0 0.00 57 5 8.06 CDK8 0 genome.wustl.edu 37 13 26970411 26970411 + RNA SNP G G C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 13 26970411 26970411 G C SNP CDK8 ENST00000477277 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CDK8 HGNC ENSG00000132964 tier1 - - 36 0 0.00 30 8 21.05 CEP164 0 genome.wustl.edu 37 11 117222648 117222648 + Frame_Shift_Del DEL A A - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 117222648 117222648 A - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.337 p.K116fs 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 tier1 20 0 0.00 25 3 10.71 CIZ1 0 genome.wustl.edu 37 9 130931346 130931346 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 130931346 130931346 C T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known silent c.2358 p.E786 0.985 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 79 0 0.00 45 20 30.77 CNTN1 0 genome.wustl.edu 37 12 41333216 41333216 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 12 41333216 41333216 C T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.1308 p.C436 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 67 0 0.00 20 11 35.48 CNTNAP3 0 genome.wustl.edu 37 9 39103829 39103829 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 39103829 39103829 G A SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known silent c.2448 p.D816 0.993 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 - - 32 0 0.00 29 10 25.64 CNTNAP3 0 genome.wustl.edu 37 9 39177438 39177438 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 39177438 39177438 G A SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known silent c.804 p.D268 0.856 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 57 0 0.00 55 8 12.70 COL10A1 0 genome.wustl.edu 37 6 116442515 116442515 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 6 116442515 116442515 G A SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.764 p.P255L 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 tier1 - - 65 0 0.00 65 14 17.72 COL4A5 0 genome.wustl.edu 37 X 107911636 107911636 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 X 107911636 107911636 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.3692 p.P1231L 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 17 0 0.00 10 15 60.00 CSMD3 0 genome.wustl.edu 37 8 113697920 113697920 + Missense_Mutation SNP G G C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 8 113697920 113697920 G C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2197 p.L733V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 103 0 0.00 57 28 32.94 DCK 0 genome.wustl.edu 37 4 71895077 71895077 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 4 71895077 71895077 G A SNP DCK ENST00000504952 human ensembl 74_37 +1 novel missense c.862 p.V288I 0.980 NULL pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 tier1 - - 69 0 0.00 56 13 18.84 DCLK1 0 genome.wustl.edu 37 13 36445378 36445378 + Missense_Mutation SNP G G C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 13 36445378 36445378 G C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.923 p.P308R 0.998 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 99 0 0.00 102 23 18.40 DCST1 0 genome.wustl.edu 37 1 155023299 155023299 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 155023299 155023299 C T SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known silent c.2076 p.S692 0.996 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 tier1 - - 26 0 0.00 15 6 28.57 DDX27 0 genome.wustl.edu 37 20 47841391 47841392 + RNA INS - - GT TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 20 47841391 47841392 - GT INS DDX27 ENST00000462328 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors DDX27 HGNC ENSG00000124228 tier1 17 0 0.00 11 12 52.17 DLD 0 genome.wustl.edu 37 7 107559676 107559676 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 107559676 107559676 C T SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.1502 p.A501V 1.000 superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 - - 286 0 0.00 139 103 42.56 DNAH5 0 genome.wustl.edu 37 5 13714645 13714645 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 5 13714645 13714645 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12994 p.V4332M 0.997 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 56 0 0.00 36 22 37.93 DNM1P46 0 genome.wustl.edu 37 15 100340186 100340186 + RNA SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 15 100340186 100340186 C A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 rs200975818 - 39 0 0.00 28 5 15.15 DUS1L 0 genome.wustl.edu 37 17 80020784 80020784 + Missense_Mutation SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 17 80020784 80020784 C G SNP DUS1L ENST00000306796 human ensembl 74_37 -1 known missense c.463 p.D155H 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS1L HGNC ENSG00000169718 tier1 - - 65 0 0.00 48 6 11.11 EMILIN3 0 genome.wustl.edu 37 20 39990018 39990018 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 20 39990018 39990018 G T SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.2191 p.L731M 0.995 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 30 0 0.00 36 4 10.00 EMR2 0 genome.wustl.edu 37 19 14883285 14883285 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 14883285 14883285 G A SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.224 p.S75L 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_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_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 tier1 - - 60 0 0.00 46 10 17.86 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815414 + RNA DEL T T - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 8 56815414 56815414 T - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582 - - - no_errors SNORA1 RFAM ENSG00000199405 tier1 28 0 0.00 20 5 20.00 ENSG00000221458 0 genome.wustl.edu 37 11 71373618 71373618 + RNA SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 71373618 71373618 G A SNP ENSG00000221458 ENST00000408531 human ensembl 74_37 -1 novel rna NULL NULL 0.017 - - - no_errors AP003498.1 Clone_based_ensembl_gene ENSG00000221458 tier1 - - 138 0 0.00 89 19 17.59 ENSG00000233723 0 genome.wustl.edu 37 2 58688958 58688958 + RNA SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 58688958 58688958 G A SNP ENSG00000233723 ENST00000429095 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AC007092.1 Clone_based_vega_gene ENSG00000233723 tier1 - - 74 0 0.00 77 13 14.29 GFRA2 0 genome.wustl.edu 37 8 21560457 21560457 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 8 21560457 21560457 C T SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.1078 p.D360N 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 tier1 - - 19 0 0.00 18 18 50.00 GGT1 0 genome.wustl.edu 37 22 25007111 25007111 + Silent SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 22 25007111 25007111 C A SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known silent c.63 p.G21 0.308 NULL pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 tier1 - - 12 0 0.00 2 5 71.43 GLI3 0 genome.wustl.edu 37 7 42004772 42004772 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 42004772 42004772 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3899 p.A1300V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 77 0 0.00 65 20 23.53 GNPAT 0 genome.wustl.edu 37 1 231386760 231386760 + Silent SNP T T C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 231386760 231386760 T C SNP GNPAT ENST00000366647 human ensembl 74_37 +1 known silent c.132 p.H44 0.965 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 tier1 - - 69 0 0.00 43 18 29.51 GPR112 0 genome.wustl.edu 37 X 135438325 135438326 + Splice_Site INS - - T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 X 135438325 135438326 - T INS GPR112 ENST00000370652 human ensembl 74_37 +1 known splice_site_ins c.6927+1_6927+1 e6+1 0.984:0.999 - - - no_errors GPR112 HGNC ENSG00000156920 tier1 21 0 0.00 10 7 41.18 GPR182 0 genome.wustl.edu 37 12 57389739 57389739 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 12 57389739 57389739 G A SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.746 p.G249E 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 tier1 - - 46 0 0.00 23 12 34.29 GRM8 0 genome.wustl.edu 37 7 126173280 126173280 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 126173280 126173280 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2156 p.P719L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 37 0 0.00 27 6 18.18 GTPBP2 0 genome.wustl.edu 37 6 43592356 43592356 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 6 43592356 43592356 G A SNP GTPBP2 ENST00000307126 human ensembl 74_37 -1 known missense c.991 p.R331C 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 tier1 - - 61 0 0.00 161 21 11.54 HERC6 0 genome.wustl.edu 37 4 89361121 89361123 + In_Frame_Del DEL AGA AGA - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 4 89361121 89361123 AGA - DEL HERC6 ENST00000264346 human ensembl 74_37 +1 known in_frame_del c.2651_2653 p.K885in_frame_del 0.929:0.003:0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 tier1 21 0 0.00 12 7 36.84 HIST1H3C 0 genome.wustl.edu 37 6 26045665 26045665 + Silent SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 6 26045665 26045665 C G SNP HIST1H3C ENST00000540144 human ensembl 74_37 +1 known silent c.27 p.R9 0.996 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 tier1 - - 134 0 0.00 91 40 30.53 IFI16 0 genome.wustl.edu 37 1 159021760 159021760 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 159021760 159021760 G T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1957 p.V653L 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 90 0 0.00 62 21 25.30 IL27 0 genome.wustl.edu 37 16 28518121 28518121 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 28518121 28518121 C T SNP IL27 ENST00000356897 human ensembl 74_37 -1 known silent c.12 p.T4 0.012 NULL superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 tier1 - - 46 0 0.00 45 6 11.76 KCND2 0 genome.wustl.edu 37 7 119914847 119914847 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 119914847 119914847 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.161 p.T54M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 191 0 0.00 113 88 43.78 KDM4C 0 genome.wustl.edu 37 9 6893233 6893233 + Splice_Site SNP G G C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 6893233 6893233 G C SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known splice_site c.921+1 e7+1 1.000 - - - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 88 0 0.00 49 4 7.55 KIAA0100 0 genome.wustl.edu 37 17 26960724 26960724 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 17 26960724 26960724 G A SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.3308 p.P1103L 1.000 pfam_FMP27_GFWDK_dom pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 27 0 0.00 25 8 24.24 KIAA1217 0 genome.wustl.edu 37 10 24762857 24762857 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 10 24762857 24762857 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.1547 p.G516D 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 58 0 0.00 45 17 27.42 KIF4B 0 genome.wustl.edu 37 5 154396257 154396257 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 5 154396257 154396257 G T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2838 p.K946N 0.141 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 61 0 0.00 45 15 25.00 KMT2C 0 genome.wustl.edu 37 7 151873903 151873904 + Frame_Shift_Ins INS - - AA TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 151873903 151873904 - AA INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.8635_8634 p.E2878fs 0.992:0.514 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 56 0 0.00 55 31 36.05 KRT28 0 genome.wustl.edu 37 17 38953381 38953381 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 17 38953381 38953381 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known silent c.843 p.F281 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 tier1 - - 35 0 0.00 219 16 6.81 KSR1 0 genome.wustl.edu 37 17 25910015 25910016 + Frame_Shift_Ins INS - - C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 17 25910015 25910016 - C INS KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_ins c.864_865 p.P291fs 0.261:0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 24 0 0.00 24 3 11.11 LHFP 0 genome.wustl.edu 37 13 40175341 40175341 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 13 40175341 40175341 G A SNP LHFP ENST00000379589 human ensembl 74_37 -1 known silent c.13 p.L5 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFP HGNC ENSG00000183722 tier1 - - 30 0 0.00 37 12 24.49 LOC100286922 0 genome.wustl.edu 37 2 234663666 234663666 + RNA SNP T T C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 234663666 234663666 T C SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 tier1 - - 44 0 0.00 57 12 17.14 LOC100293748 0 genome.wustl.edu 37 1 149261391 149261391 + RNA SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 149261391 149261391 C G SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 rs138932924 - 16 0 0.00 6 4 40.00 LOC100506281 0 genome.wustl.edu 37 16 75260576 75260578 + RNA DEL ACC ACC - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 75260576 75260578 ACC - DEL LOC100506281 ENST00000489723 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.998:0.997 - - - no_errors RP11-331F4.4 Clone_based_vega_gene ENSG00000240338 tier1 22 0 0.00 8 4 33.33 LRIT1 0 genome.wustl.edu 37 10 85992137 85992137 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 10 85992137 85992137 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.1418 p.R473Q 0.054 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 25 0 0.00 11 9 45.00 LRP1B 0 genome.wustl.edu 37 2 141459802 141459802 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 141459802 141459802 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.6210 p.E2070 0.999 smart_LDLR_classB_rpt 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 - - 136 0 0.00 127 34 20.99 MGAT1 0 genome.wustl.edu 37 5 180219380 180219380 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 5 180219380 180219380 G A SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known missense c.592 p.R198W 0.327 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 tier1 - - 75 0 0.00 59 10 14.49 MSL3P1 0 genome.wustl.edu 37 2 234775302 234775302 + RNA SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 234775302 234775302 C A SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 0.749 - - - no_errors MSL3P1 HGNC ENSG00000224287 tier1 - - 44 0 0.00 45 10 18.18 MTMR9 0 genome.wustl.edu 37 8 11177307 11177307 + Silent SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 8 11177307 11177307 C A SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known silent c.1446 p.I482 1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 tier1 - - 66 0 0.00 93 12 11.43 MXRA5 0 genome.wustl.edu 37 X 3235383 3235383 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 X 3235383 3235383 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.6339 p.A2113 0.061 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 18 0 0.00 6 5 45.45 MYH14 0 genome.wustl.edu 37 19 50784914 50784914 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 50784914 50784914 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4354 p.R1452W 0.907 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 20 0 0.00 7 11 61.11 MYO9B 0 genome.wustl.edu 37 19 17291787 17291787 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 17291787 17291787 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.2271 p.G757 0.878 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 tier1 - - 65 0 0.00 46 7 13.21 MYOC 0 genome.wustl.edu 37 1 171621640 171621640 + Missense_Mutation SNP T T C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 171621640 171621640 T C SNP MYOC ENST00000037502 human ensembl 74_37 -1 known missense c.112 p.R38G 0.075 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 tier1 - - 37 0 0.00 16 7 30.43 N4BP2L2 0 genome.wustl.edu 37 13 33096324 33096324 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 13 33096324 33096324 C T SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.181 p.E61K 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 tier1 - - 130 0 0.00 85 35 28.93 NBAS 0 genome.wustl.edu 37 2 15615939 15615939 + Nonsense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 15615939 15615939 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known nonsense c.1213 p.R405* 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 70 0 0.00 32 14 30.43 NBEAL2 0 genome.wustl.edu 37 3 47042666 47042666 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 3 47042666 47042666 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.4481 p.R1494H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 26 0 0.00 15 6 28.57 NOTCH2 0 genome.wustl.edu 37 1 120466395 120466395 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 120466395 120466395 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.4724 p.T1575I 1.000 pirsf_Notch,pfam_Notch_NOD_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 82 0 0.00 46 19 29.23 NPHP1 0 genome.wustl.edu 37 2 110927508 110927508 + Nonsense_Mutation SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 110927508 110927508 C A SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known nonsense c.397 p.E133* 0.997 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 - - 46 0 0.00 57 14 19.72 NTRK1 0 genome.wustl.edu 37 1 156834523 156834523 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 156834523 156834523 C T SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known silent c.291 p.T97 1.000 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 19 0 0.00 7 4 36.36 OR10S1 0 genome.wustl.edu 37 11 123848048 123848048 + Nonsense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 123848048 123848048 G T SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known nonsense c.351 p.C117* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 tier1 - - 23 0 0.00 24 5 17.24 OR1E2 0 genome.wustl.edu 37 17 3336884 3336884 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 17 3336884 3336884 G A SNP OR1E2 ENST00000248384 human ensembl 74_37 -1 known silent c.252 p.N84 0.798 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 OR1E2 HGNC ENSG00000127780 tier1 - - 54 0 0.00 18 20 52.63 OR5H14 0 genome.wustl.edu 37 3 97869146 97869146 + Missense_Mutation SNP A A C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 3 97869146 97869146 A C SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.917 p.K306T 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 36 0 0.00 22 8 26.67 OR9Q1 0 genome.wustl.edu 37 11 57947184 57947184 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 57947184 57947184 G A SNP OR9Q1 ENST00000335397 human ensembl 74_37 +1 known missense c.268 p.A90T 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 OR9Q1 HGNC ENSG00000186509 tier1 - - 112 0 0.00 80 25 23.81 OXCT2 0 genome.wustl.edu 37 1 40235448 40235448 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 40235448 40235448 C T SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known missense c.1480 p.D494N 0.171 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 tier1 rs150795467 - 21 0 0.00 20 6 23.08 OXCT2 0 genome.wustl.edu 37 1 40236245 40236245 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 40236245 40236245 C T SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known missense c.683 p.R228H 0.983 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 tier1 - - 18 0 0.00 6 8 57.14 PASK 0 genome.wustl.edu 37 2 242065617 242065617 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 242065617 242065617 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.2713 p.R905W 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 rs146183956 - 33 0 0.00 27 8 22.22 PCDHB3 0 genome.wustl.edu 37 5 140482620 140482620 + Missense_Mutation SNP G G C TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 5 140482620 140482620 G C SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.2387 p.S796T 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 rs148868453 - 139 0 0.00 109 23 17.42 PCDHGC4 0 genome.wustl.edu 37 5 140865602 140865602 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 5 140865602 140865602 C T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.862 p.R288C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 tier1 - - 134 0 0.00 70 32 31.37 POSTN 0 genome.wustl.edu 37 13 38171386 38171386 + Silent SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 13 38171386 38171386 G T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.153 p.G51 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 56 0 0.00 53 13 19.70 PPIB 0 genome.wustl.edu 37 15 64449050 64449050 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 15 64449050 64449050 C T SNP PPIB ENST00000300026 human ensembl 74_37 -1 known silent c.402 p.G134 0.966 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 tier1 - - 86 0 0.00 75 25 25.00 PTCHD2 0 genome.wustl.edu 37 1 11561540 11561540 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 11561540 11561540 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.491 p.R164H 0.937 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 37 0 0.00 20 7 25.93 RANBP6 0 genome.wustl.edu 37 9 6012437 6012437 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 6012437 6012437 C T SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known silent c.3171 p.E1057 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 - - 98 0 0.00 37 12 24.49 RTN3 0 genome.wustl.edu 37 11 63517614 63517614 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 11 63517614 63517614 G T SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.2682 p.R894S 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 - - 39 0 0.00 27 7 20.59 SCNN1A 0 genome.wustl.edu 37 12 6465097 6465097 + RNA DEL G G - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 12 6465097 6465097 G - DEL SCNN1A ENST00000536087 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SCNN1A HGNC ENSG00000111319 tier1 53 0 0.00 30 23 43.40 SHC3 0 genome.wustl.edu 37 9 91793365 91793365 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 91793365 91793365 C T SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.11 p.R4H 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 tier1 - - 44 0 0.00 44 11 19.64 SIGLEC11 0 genome.wustl.edu 37 19 50453450 50453450 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 50453450 50453450 G T SNP SIGLEC11 ENST00000447370 human ensembl 74_37 -1 known missense c.1874 p.P625Q 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC11 HGNC ENSG00000161640 tier1 - - 17 0 0.00 4 7 63.64 SLC52A3 0 genome.wustl.edu 37 20 744555 744555 + Silent SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 20 744555 744555 G A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known silent c.660 p.P220 0.005 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 tier1 - - 31 0 0.00 30 6 16.67 SMARCA1 0 genome.wustl.edu 37 X 128650354 128650354 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 X 128650354 128650354 G A SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.382 p.P128S 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 tier1 - - 79 0 0.00 57 51 47.22 SNORA14A 0 genome.wustl.edu 37 7 75573194 75573194 + RNA SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 7 75573194 75573194 C T SNP SNORA14A ENST00000364773 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNORA14A HGNC ENSG00000201643 tier1 - - 137 0 0.00 87 69 43.95 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766006 + RNA DEL A A - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 1 31766006 31766006 A - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 31 0 0.00 20 4 16.67 SNX21 0 genome.wustl.edu 37 20 44469285 44469285 + Missense_Mutation SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 20 44469285 44469285 C G SNP SNX21 ENST00000491381 human ensembl 74_37 +1 known missense c.455 p.T152S 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 tier1 - - 102 0 0.00 127 14 9.93 SRRM2 0 genome.wustl.edu 37 16 2813929 2813929 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 2813929 2813929 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.3400 p.E1134K 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 81 0 0.00 45 29 39.19 ST3GAL2 0 genome.wustl.edu 37 16 70432141 70432141 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 70432141 70432141 G A SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.293 p.T98I 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 tier1 - - 63 0 0.00 29 20 40.82 SULT1A2 0 genome.wustl.edu 37 16 28607142 28607142 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 28607142 28607142 C T SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known missense c.110 p.R37Q 0.003 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 tier1 - - 27 0 0.00 26 7 21.21 SYCP2 0 genome.wustl.edu 37 20 58444989 58444990 + Frame_Shift_Ins INS - - T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 20 58444989 58444990 - T INS SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_ins c.3605_3604 p.I1202fs 0.000:0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 94 0 0.00 101 16 13.68 SYDE1 0 genome.wustl.edu 37 19 15224565 15224565 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 15224565 15224565 C T SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1999 p.R667W 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 tier1 - - 89 0 0.00 62 18 22.50 SYNE1 0 genome.wustl.edu 37 6 152688457 152688457 + Missense_Mutation SNP T T G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 6 152688457 152688457 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.9868 p.K3290Q 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 149 0 0.00 172 45 20.74 TBX22 0 genome.wustl.edu 37 X 79278612 79278612 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 X 79278612 79278612 G A SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.229 p.D77N 0.000 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 TBX22 HGNC ENSG00000122145 tier1 - - 22 0 0.00 8 13 61.90 TECTB 0 genome.wustl.edu 37 10 114046102 114046102 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 10 114046102 114046102 G A SNP TECTB ENST00000369422 human ensembl 74_37 +1 known missense c.436 p.G146R 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 tier1 - - 51 0 0.00 46 18 28.12 TNFAIP3 0 genome.wustl.edu 37 6 138196980 138196980 + RNA SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 6 138196980 138196980 G T SNP TNFAIP3 ENST00000485192 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TNFAIP3 HGNC ENSG00000118503 tier1 - - 117 0 0.00 97 33 25.38 TP53 0 genome.wustl.edu 37 17 7578508 7578508 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 17 7578508 7578508 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.422 p.C141Y 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 tier1 - - 34 0 0.00 20 9 31.03 TPO 0 genome.wustl.edu 37 2 1488479 1488479 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 1488479 1488479 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1450 p.V484M 0.910 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 59 0 0.00 45 13 22.41 TRIM32 0 genome.wustl.edu 37 9 119461502 119461502 + Frame_Shift_Del DEL G G - TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 9 119461502 119461502 G - DEL TRIM32 ENST00000373983 human ensembl 74_37 +1 known frame_shift_del c.1481 p.W494fs 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 tier1 77 0 0.00 52 10 16.13 TRPA1 0 genome.wustl.edu 37 8 72975041 72975041 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 8 72975041 72975041 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.800 p.P267L 0.001 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 86 0 0.00 72 24 25.00 TTN 0 genome.wustl.edu 37 2 179641601 179641601 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 179641601 179641601 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4990 p.R1664W 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 rs147695336 - 104 0 0.00 102 19 15.70 TUBA4B 0 genome.wustl.edu 37 2 220136719 220136719 + RNA SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 2 220136719 220136719 G A SNP TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 0.899 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 - - 50 0 0.00 21 12 36.36 USP8 0 genome.wustl.edu 37 15 50782048 50782048 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 15 50782048 50782048 C T SNP USP8 ENST00000307179 human ensembl 74_37 +1 known silent c.1941 p.I647 0.393 superfamily_WW_dom pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 tier1 - - 32 0 0.00 32 9 21.95 VAT1L 0 genome.wustl.edu 37 16 77918583 77918583 + Missense_Mutation SNP C C A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 16 77918583 77918583 C A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known missense c.961 p.L321M 1.000 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 33 0 0.00 23 9 28.12 VN1R4 0 genome.wustl.edu 37 19 53770569 53770569 + Missense_Mutation SNP G G T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 53770569 53770569 G T SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.350 p.A117E 0.001 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 tier1 - - 62 0 0.00 27 12 30.77 WAC 0 genome.wustl.edu 37 10 28903532 28903532 + Missense_Mutation SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 10 28903532 28903532 C G SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1474 p.Q492E 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 tier1 - - 67 0 0.00 49 5 9.26 WDFY3 0 genome.wustl.edu 37 4 85675009 85675009 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 4 85675009 85675009 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.5580 p.E1860 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 36 0 0.00 41 4 8.89 WDR96 0 genome.wustl.edu 37 10 105923979 105923979 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 10 105923979 105923979 C T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.3119 p.R1040H 0.999 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 tier1 rs200403983 - 53 0 0.00 23 7 23.33 ZFHX4 0 genome.wustl.edu 37 8 77767842 77767842 + Silent SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 8 77767842 77767842 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.8685 p.N2895 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 41 0 0.00 47 13 21.67 ZNF445 0 genome.wustl.edu 37 3 44497039 44497039 + Missense_Mutation SNP C C G TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 3 44497039 44497039 C G SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 48 0 0.00 20 8 28.57 ZNF521 0 genome.wustl.edu 37 18 22805598 22805598 + Missense_Mutation SNP G G A TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 18 22805598 22805598 G A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2284 p.R762C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 57 0 0.00 44 7 13.73 ZNF625 0 genome.wustl.edu 37 19 12256126 12256126 + Missense_Mutation SNP C C T TCGA-IN-A6RS-01A-12D-A34U-08 TCGA-IN-A6RS-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbb958f5-8a67-47e5-bb80-eb7197161b0f 62616a91-3636-4e27-a382-edab56ce7a91 19 12256126 12256126 C T SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known missense c.1105 p.E369K 0.001 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 ZNF625 HGNC ENSG00000257591 tier1 - - 94 0 0.00 77 9 10.47