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 ADCK2 90956 genome.wustl.edu 37 7 140374050 140374050 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 140374050 140374050 C A SNP ADCK2 ENST00000072869 human ensembl 70_37 +1 known missense c.920 p.S307Y 0.968 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ADORA3 140 genome.wustl.edu 37 1 112029268 112029268 + Nonsense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 112029268 112029268 G C SNP ADORA3 ENST00000369716 human ensembl 70_37 -1 known nonsense c.812 p.S271* 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ALAS2 212 genome.wustl.edu 37 X 55047616 55047616 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 55047616 55047616 G T SNP ALAS2 ENST00000330807 human ensembl 70_37 -1 known missense c.507 p.N169K 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ALLC 55821 genome.wustl.edu 37 2 3749212 3749212 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 3749212 3749212 C T SNP ALLC ENST00000252505 human ensembl 70_37 +1 known missense c.961 p.L321F 0.997 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC C12orf44 60673 genome.wustl.edu 37 12 52470838 52470838 + Missense_Mutation SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 52470838 52470838 T C SNP C12orf44 ENST00000336854 human ensembl 70_37 +1 known missense c.521 p.V174A 1.000 NULL pfam_ATG101 - no_errors C12orf44 HGNC SMCO1 255798 genome.wustl.edu 37 3 196241994 196241994 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 196241994 196241994 G A SNP C3orf43 ENST00000452776 human ensembl 70_37 -1 known silent c.87 p.V29 0.009 NULL NULL - no_errors C3orf43 HGNC C7orf31 136895 genome.wustl.edu 37 7 25176304 25176304 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 25176304 25176304 G A SNP C7orf31 ENST00000283905 human ensembl 70_37 -1 known missense c.1060 p.R354C 0.000 NULL NULL - no_errors C7orf31 HGNC CHRNA5 1138 genome.wustl.edu 37 15 78882913 78882913 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 78882913 78882913 G C SNP CHRNA5 ENST00000299565 human ensembl 70_37 +1 known missense c.1180 p.E394Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125671718 125671718 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 125671718 125671718 G A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.3774 p.M1258I 1.000 NULL 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,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 CNTNAP5 HGNC COCH 1690 genome.wustl.edu 37 14 31355293 31355293 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 14 31355293 31355293 G C SNP COCH ENST00000216361 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC COPS2 9318 genome.wustl.edu 37 15 49421674 49421674 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 49421674 49421674 C A SNP COPS2 ENST00000299259 human ensembl 70_37 -1 known missense c.1149 p.K383N 1.000 pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PCI_dom pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC CRISP1 167 genome.wustl.edu 37 6 49814315 49814315 + Missense_Mutation SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 6 49814315 49814315 A G SNP CRISP1 ENST00000335847 human ensembl 70_37 -1 known missense c.353 p.V118A 0.118 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC CSMD1 64478 genome.wustl.edu 37 8 2813245 2813245 + Missense_Mutation SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 8 2813245 2813245 C G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.9863 p.R3288T 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD1 64478 genome.wustl.edu 37 8 4277496 4277496 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 8 4277496 4277496 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.394 p.G132C 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC DCX 1641 genome.wustl.edu 37 X 110574146 110574146 + Splice_Site SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 110574146 110574146 C T SNP DCX ENST00000338081 human ensembl 70_37 -1 known splice_site c.1174+1 e5+1 1.000 - - - no_errors DCX HGNC DENND5B 160518 genome.wustl.edu 37 12 31577564 31577564 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 31577564 31577564 C T SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.2401 p.E801K 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENO1 2023 genome.wustl.edu 37 1 8921484 8921484 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 8921484 8921484 C T SNP ENO1 ENST00000234590 human ensembl 70_37 -1 known missense c.1240 p.E414K 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000223082 0 genome.wustl.edu 37 12 40200929 40200929 + RNA SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 40200929 40200929 G A SNP ENSG00000223082 ENST00000411150 human ensembl 70_37 -1 novel rna NULL NULL 0.008 - - - no_errors AC121336.1 Clone_based_ensembl_gene ENSG00000259660 0 genome.wustl.edu 37 15 102293216 102293216 + RNA SNP A A C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 102293216 102293216 A C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.887 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102293235 102293235 + RNA SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 102293235 102293235 G T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ETS1 2113 genome.wustl.edu 37 11 128359203 128359203 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 128359203 128359203 G A SNP ETS1 ENST00000392668 human ensembl 70_37 -1 known silent c.517 p.L173 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC FBXO41 150726 genome.wustl.edu 37 2 73495991 73495991 + Silent SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 73495991 73495991 C A SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known silent c.951 p.A317 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC FSIP2 401024 genome.wustl.edu 37 2 186665466 186665466 + Silent SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 186665466 186665466 T C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known silent c.11700 p.C3900 0.046 NULL NULL - no_errors FSIP2 HGNC GABRG2 2566 genome.wustl.edu 37 5 161576257 161576257 + Missense_Mutation SNP T T A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 5 161576257 161576257 T A SNP GABRG2 ENST00000356592 human ensembl 70_37 +1 known missense c.1066 p.L356M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC GPC6 10082 genome.wustl.edu 37 13 94197569 94197569 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 13 94197569 94197569 G C SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known missense c.214 p.E72Q 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC GRIP2 80852 genome.wustl.edu 37 3 14548415 14548415 + RNA SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 14548415 14548415 C T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors GRIP2 HGNC GRXCR1 389207 genome.wustl.edu 37 4 42965046 42965046 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 4 42965046 42965046 C T SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known silent c.522 p.N174 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC HMCN1 83872 genome.wustl.edu 37 1 185880836 185880836 + Missense_Mutation SNP A A C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 185880836 185880836 A C SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.824 p.H275P 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,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,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC IP6K3 117283 genome.wustl.edu 37 6 33690845 33690845 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 6 33690845 33690845 C T SNP IP6K3 ENST00000293756 human ensembl 70_37 -1 known silent c.885 p.R295 0.001 pfam_IPK pfam_IPK - no_errors IP6K3 HGNC ITIH6 347365 genome.wustl.edu 37 X 54824609 54824609 + Missense_Mutation SNP A A T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 54824609 54824609 A T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.35 p.F12Y 0.011 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC KDM3A 55818 genome.wustl.edu 37 2 86707395 86707395 + Frame_Shift_Del DEL G G - TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 86707395 86707395 G - DEL KDM3A ENST00000312912 human ensembl 70_37 +1 known frame_shift_del c.2422 p.G808fs 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC KNDC1 85442 genome.wustl.edu 37 10 135015330 135015330 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 10 135015330 135015330 C T SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known silent c.3321 p.A1107 0.055 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC LRP2 4036 genome.wustl.edu 37 2 170103431 170103431 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 170103431 170103431 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.2974 p.P992S 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC MALAT1 378938 genome.wustl.edu 37 11 65273634 65273635 + RNA INS - - CTG TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 65273634 65273635 - CTG INS MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC MAP2K3 5606 genome.wustl.edu 37 17 21215501 21215501 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 21215501 21215501 G A SNP MAP2K3 ENST00000342679 human ensembl 70_37 +1 known silent c.822 p.P274 0.016 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K3 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43340706 43340706 + RNA SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 43340706 43340706 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors MAP3K14 HGNC MEG3 55384 genome.wustl.edu 37 14 101300594 101300594 + RNA SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 14 101300594 101300594 C G SNP MEG3 ENST00000398461 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors MEG3 HGNC MFSD6L 162387 genome.wustl.edu 37 17 8701915 8701915 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 8701915 8701915 G C SNP MFSD6L ENST00000329805 human ensembl 70_37 -1 known missense c.524 p.S175C 0.003 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC KMT2C 58508 genome.wustl.edu 37 7 151849976 151849976 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 151849976 151849976 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.12511 p.E4171K 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLST8 64223 genome.wustl.edu 37 16 2256404 2256404 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 16 2256404 2256404 G T SNP MLST8 ENST00000397124 human ensembl 70_37 +1 known missense c.175 p.A59S 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC MS4A14 84689 genome.wustl.edu 37 11 60183703 60183703 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 60183703 60183703 C T SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.1262 p.T421I 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC MYH9 4627 genome.wustl.edu 37 22 36697588 36697588 + Nonsense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 22 36697588 36697588 G A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.2623 p.Q875* 0.991 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC NCAM1 4684 genome.wustl.edu 37 11 113146829 113146829 + RNA SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 113146829 113146829 G C SNP NCAM1 ENST00000397957 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC OGT 8473 genome.wustl.edu 37 X 70777114 70777114 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 70777114 70777114 G C SNP OGT ENST00000373719 human ensembl 70_37 +1 known missense c.1390 p.D464H 1.000 pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ONECUT2 9480 genome.wustl.edu 37 18 55143878 55143878 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 18 55143878 55143878 C T SNP ONECUT2 ENST00000262095 human ensembl 70_37 +1 known missense c.1438 p.R480C 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC OR10AG1 282770 genome.wustl.edu 37 11 55735637 55735637 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 55735637 55735637 C T SNP OR10AG1 ENST00000312345 human ensembl 70_37 -1 known silent c.303 p.T101 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC OR4C6 219432 genome.wustl.edu 37 11 55432790 55432790 + Missense_Mutation SNP A A T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 55432790 55432790 A T SNP OR4C6 ENST00000314259 human ensembl 70_37 +1 known missense c.148 p.S50C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC OR6J1 79549 genome.wustl.edu 37 14 23103689 23103689 + Missense_Mutation SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 14 23103689 23103689 C G SNP OR6J1 ENST00000540461 human ensembl 70_37 -1 known missense c.28 p.E10Q 0.411 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6J1 HGNC PCIF1 63935 genome.wustl.edu 37 20 44571747 44571747 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 20 44571747 44571747 C T SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.685 p.P229S 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC PCNT 5116 genome.wustl.edu 37 21 47851509 47851509 + Nonsense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 21 47851509 47851509 G T SNP PCNT ENST00000359568 human ensembl 70_37 +1 known nonsense c.8131 p.E2711* 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC PHF21A 51317 genome.wustl.edu 37 11 45992778 45992778 + Silent SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 11 45992778 45992778 A G SNP PHF21A ENST00000257821 human ensembl 70_37 -1 known silent c.501 p.A167 0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC POLR1A 25885 genome.wustl.edu 37 2 86266016 86266016 + RNA SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 86266016 86266016 C A SNP POLR1A ENST00000492034 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors POLR1A HGNC POLR3C 10623 genome.wustl.edu 37 1 145592732 145592732 + Silent SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 145592732 145592732 G A SNP POLR3C ENST00000334163 human ensembl 70_37 -1 known silent c.1563 p.F521 0.999 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC PRAMEF11 440560 genome.wustl.edu 37 1 12888364 12888364 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 12888364 12888364 G A SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.160 p.R54C 0.000 NULL NULL - no_errors PRAMEF11 HGNC PRKACA 5566 genome.wustl.edu 37 19 14208228 14208228 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 14208228 14208228 G A SNP PRKACA ENST00000308677 human ensembl 70_37 -1 known missense c.710 p.P237L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC RAB34 83871 genome.wustl.edu 37 17 27043038 27043038 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 27043038 27043038 G A SNP RAB34 ENST00000447716 human ensembl 70_37 -1 known missense c.356 p.S119L 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC RALGPS1 9649 genome.wustl.edu 37 9 129972982 129972982 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 9 129972982 129972982 G A SNP RALGPS1 ENST00000424082 human ensembl 70_37 +1 known missense c.1046 p.R349H 1.000 NULL pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC RNF213 57674 genome.wustl.edu 37 17 78367415 78367415 + RNA SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 17 78367415 78367415 G A SNP RNF213 ENST00000427003 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF213 HGNC ROR2 4920 genome.wustl.edu 37 9 94488984 94488984 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 9 94488984 94488984 C A SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.1225 p.V409F 1.000 superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC RPL41 6171 genome.wustl.edu 37 12 56510565 56510565 + RNA SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 12 56510565 56510565 C G SNP RPL41 ENST00000358888 human ensembl 70_37 +1 known rna NULL NULL 0.733 - - - no_errors RPL41 HGNC RPL6P27 645387 genome.wustl.edu 37 18 6462383 6462383 + RNA SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 18 6462383 6462383 T C SNP RPL6P27 ENST00000583065 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL6P27 HGNC RYR1 6261 genome.wustl.edu 37 19 38948806 38948806 + Silent SNP T T C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 38948806 38948806 T C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.2041 p.L681 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SAP18 10284 genome.wustl.edu 37 13 21720741 21720741 + RNA SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 13 21720741 21720741 C T SNP SAP18 ENST00000471009 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SAP18 HGNC SCUBE3 222663 genome.wustl.edu 37 6 35214037 35214037 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 6 35214037 35214037 C T SNP SCUBE3 ENST00000394681 human ensembl 70_37 +1 known missense c.2855 p.S952F 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC SEC24C 9632 genome.wustl.edu 37 10 75530081 75530081 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 10 75530081 75530081 G A SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known missense c.2906 p.R969Q 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC SIGLEC10 89790 genome.wustl.edu 37 19 51918168 51918168 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 51918168 51918168 G T SNP SIGLEC10 ENST00000339313 human ensembl 70_37 -1 known missense c.1525 p.L509I 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC SLC12A6 9990 genome.wustl.edu 37 15 34529007 34529007 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 15 34529007 34529007 C T SNP SLC12A6 ENST00000558589 human ensembl 70_37 -1 known missense c.2917 p.D973N 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11106940 11106940 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 11106940 11106940 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known missense c.1645 p.R549C 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SPTA1 6708 genome.wustl.edu 37 1 158637785 158637785 + Missense_Mutation SNP T T G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 158637785 158637785 T G SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known missense c.1901 p.K634T 0.979 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC STAG1 10274 genome.wustl.edu 37 3 136196132 136196132 + Missense_Mutation SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 136196132 136196132 C A SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known missense c.1025 p.R342M 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC SUMO3 6612 genome.wustl.edu 37 21 46226693 46226693 + RNA SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 21 46226693 46226693 G C SNP SUMO3 ENST00000479153 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors SUMO3 HGNC SYNPO 11346 genome.wustl.edu 37 5 150028582 150028582 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 5 150028582 150028582 G T SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.1477 p.G493W 0.037 NULL NULL - no_errors SYNPO HGNC TMEM115 11070 genome.wustl.edu 37 3 50396227 50396227 + Missense_Mutation SNP C C G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 3 50396227 50396227 C G SNP TMEM115 ENST00000266025 human ensembl 70_37 -1 known missense c.268 p.E90Q 1.000 pfam_DUF1751_Mem_euk pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC TNS3 64759 genome.wustl.edu 37 7 47408264 47408264 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 47408264 47408264 G C SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.1979 p.S660C 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC TRPM4 54795 genome.wustl.edu 37 19 49693976 49693976 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 49693976 49693976 G T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known missense c.2156 p.R719L 0.225 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC TSSC1 7260 genome.wustl.edu 37 2 3217970 3217970 + Missense_Mutation SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 3217970 3217970 C T SNP TSSC1 ENST00000382125 human ensembl 70_37 -1 known missense c.466 p.D156N 0.997 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC XIRP2 129446 genome.wustl.edu 37 2 168099826 168099826 + Missense_Mutation SNP A A G TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 168099826 168099826 A G SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.1924 p.K642E 0.997 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ZBTB40 9923 genome.wustl.edu 37 1 22848902 22848902 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 1 22848902 22848902 G C SNP ZBTB40 ENST00000375647 human ensembl 70_37 +1 known missense c.3244 p.E1082Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207169840 207169840 + Silent SNP C C T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 2 207169840 207169840 C T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known silent c.588 p.N196 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZMYM3 9203 genome.wustl.edu 37 X 70468078 70468078 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 X 70468078 70468078 G A SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known missense c.1915 p.R639W 1.000 pfam_Znf_MYM,smart_TRASH pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ZNF345 25850 genome.wustl.edu 37 19 37383799 37383799 + Silent SNP C C A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 37383799 37383799 C A SNP ZNF345 ENST00000526123 human ensembl 70_37 +1 putative silent c.126 p.I42 0.713 NULL NULL - no_errors ZNF345 HGNC ZNF398 57541 genome.wustl.edu 37 7 148863295 148863295 + Missense_Mutation SNP G G C TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 7 148863295 148863295 G C SNP ZNF398 ENST00000540950 human ensembl 70_37 +1 known missense c.481 p.E161Q 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ZNF486 90649 genome.wustl.edu 37 19 20295210 20295210 + Missense_Mutation SNP G G A TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7099c2b8-72df-4118-9950-72799ab04f3e 053a4c1d-56e5-474e-bedf-171f1ee2bff4 19 20295210 20295210 G A SNP ZNF486 ENST00000335117 human ensembl 70_37 +1 known missense c.76 p.E26K 0.127 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF486 HGNC