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 ABCD3 5825 genome.wustl.edu 37 1 94980758 94980758 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 94980758 94980758 G T SNP ABCD3 ENST00000454898 human ensembl 70_37 +1 known missense c.1974 p.E658D 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD3 HGNC ACSF2 80221 genome.wustl.edu 37 17 48538695 48538695 + Silent SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 48538695 48538695 C G SNP ACSF2 ENST00000300441 human ensembl 70_37 +1 known silent c.417 p.L139 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ACSM5 54988 genome.wustl.edu 37 16 20451221 20451221 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 20451221 20451221 C A SNP ACSM5 ENST00000331849 human ensembl 70_37 +1 known missense c.1636 p.P546T 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ACTL9 284382 genome.wustl.edu 37 19 8808989 8808989 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 8808989 8808989 G C SNP ACTL9 ENST00000324436 human ensembl 70_37 -1 known silent c.63 p.G21 0.004 NULL pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ADAM18 8749 genome.wustl.edu 37 8 39496008 39496008 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 39496008 39496008 G T SNP ADAM18 ENST00000265707 human ensembl 70_37 +1 known silent c.852 p.V284 0.318 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ADCY4 196883 genome.wustl.edu 37 14 24792559 24792559 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 24792559 24792559 G A SNP ADCY4 ENST00000310677 human ensembl 70_37 -1 known silent c.2148 p.I716 0.991 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ANKRD34A 284615 genome.wustl.edu 37 1 145473903 145473903 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 145473903 145473903 C G SNP ANKRD34A ENST00000323397 human ensembl 70_37 +1 known missense c.575 p.A192G 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC APCDD1L 164284 genome.wustl.edu 37 20 57036492 57036492 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 20 57036492 57036492 G C SNP APCDD1L ENST00000439429 human ensembl 70_37 -1 known missense c.893 p.S298W 0.000 NULL NULL - no_errors APCDD1L HGNC ARHGAP29 9411 genome.wustl.edu 37 1 94654878 94654878 + Missense_Mutation SNP T T G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 94654878 94654878 T G SNP ARHGAP29 ENST00000260526 human ensembl 70_37 -1 known missense c.1470 p.Q490H 0.001 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ARPP21 10777 genome.wustl.edu 37 3 35724351 35724351 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 35724351 35724351 G T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.141 p.E47D 0.758 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ARPP21 10777 genome.wustl.edu 37 3 35835430 35835430 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 35835430 35835430 G T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.2422 p.G808C 0.992 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ASB15 142685 genome.wustl.edu 37 7 123254659 123254659 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 123254659 123254659 G T SNP ASB15 ENST00000275699 human ensembl 70_37 +1 known nonsense c.103 p.E35* 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC BRPF1 7862 genome.wustl.edu 37 3 9775982 9775982 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 9775982 9775982 C A SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.158 p.P53Q 0.986 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC C17orf47 284083 genome.wustl.edu 37 17 56620839 56620839 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 56620839 56620839 G C SNP C17orf47 ENST00000321691 human ensembl 70_37 -1 known missense c.709 p.Q237E 0.001 NULL NULL - no_errors C17orf47 HGNC C1R 715 genome.wustl.edu 37 12 7187784 7187785 + RNA INS - - T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 7187784 7187785 - T INS C1R ENST00000458061 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors C1R HGNC C6orf141 135398 genome.wustl.edu 37 6 49518869 49518869 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 49518869 49518869 G C SNP C6orf141 ENST00000371194 human ensembl 70_37 +1 known missense c.364 p.E122Q 0.001 NULL NULL - no_errors C6orf141 HGNC CACNA1B 774 genome.wustl.edu 37 9 140807695 140807695 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 140807695 140807695 G T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.594 p.R198S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CARD11 84433 genome.wustl.edu 37 7 2979539 2979539 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 2979539 2979539 C G SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.708 p.L236F 0.999 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CCKBR 887 genome.wustl.edu 37 11 6291978 6291978 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 6291978 6291978 C T SNP CCKBR ENST00000525462 human ensembl 70_37 +1 known silent c.756 p.D252 0.022 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC CD300A 11314 genome.wustl.edu 37 17 72469699 72469699 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 72469699 72469699 G T SNP CD300A ENST00000360141 human ensembl 70_37 +1 known missense c.65 p.R22M 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC CELA2B 51032 genome.wustl.edu 37 1 15807647 15807647 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 15807647 15807647 C A SNP CELA2B ENST00000375910 human ensembl 70_37 +1 known missense c.184 p.L62M 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2B HGNC CHM 1121 genome.wustl.edu 37 X 85211314 85211314 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 85211314 85211314 A G SNP CHM ENST00000357749 human ensembl 70_37 -1 known missense c.1010 p.V337A 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC CILP2 148113 genome.wustl.edu 37 19 19656052 19656052 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 19656052 19656052 G A SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known missense c.2698 p.A900T 0.932 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC COL16A1 1307 genome.wustl.edu 37 1 32138051 32138051 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 32138051 32138051 C G SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.3071 p.G1024A 0.992 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC CTSV 1515 genome.wustl.edu 37 9 99798947 99798947 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 99798947 99798947 G A SNP CTSL2 ENST00000259470 human ensembl 70_37 -1 known missense c.479 p.S160L 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL2 HGNC CYP2U1 113612 genome.wustl.edu 37 4 108871578 108871578 + Nonstop_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 108871578 108871578 G T SNP CYP2U1 ENST00000332884 human ensembl 70_37 +1 known nonstop c.1634 p.*545L 0.977 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC CYP7A1 1581 genome.wustl.edu 37 8 59410991 59410991 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 59410991 59410991 G T SNP CYP7A1 ENST00000301645 human ensembl 70_37 -1 known missense c.118 p.P40T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC DAP3 7818 genome.wustl.edu 37 1 155701224 155701224 + RNA SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 155701224 155701224 C G SNP DAP3 ENST00000497433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC DHX34 9704 genome.wustl.edu 37 19 47880373 47880373 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 47880373 47880373 G C SNP DHX34 ENST00000328771 human ensembl 70_37 +1 known missense c.2616 p.M872I 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC DKK2 27123 genome.wustl.edu 37 4 107956608 107956608 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 107956608 107956608 A G SNP DKK2 ENST00000285311 human ensembl 70_37 -1 novel silent c.141 p.P47 0.519 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC DLG5 9231 genome.wustl.edu 37 10 79569484 79569484 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 10 79569484 79569484 C G SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.4468 p.A1490P 0.022 superfamily_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DOCK1 1793 genome.wustl.edu 37 10 129231692 129231692 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 10 129231692 129231692 G C SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.4997 p.G1666A 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DYRK3 8444 genome.wustl.edu 37 1 206810291 206810291 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 206810291 206810291 C T SNP DYRK3 ENST00000489878 human ensembl 70_37 +1 known rna NULL NULL 0.040 - - - no_errors DYRK3 HGNC EEF1DP3 196549 genome.wustl.edu 37 13 32527401 32527401 + RNA SNP T T C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 13 32527401 32527401 T C SNP EEF1DP3 ENST00000428783 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC EML3 256364 genome.wustl.edu 37 11 62376235 62376235 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 62376235 62376235 C G SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.972 p.Q324H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC EMR2 30817 genome.wustl.edu 37 19 14884841 14884841 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 14884841 14884841 G T SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known missense c.108 p.D36E 0.000 smart_EG-like_dom,prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,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 ENSG00000187812 0 genome.wustl.edu 37 15 76075301 76075301 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 76075301 76075301 C T SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.961 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000207207 0 genome.wustl.edu 37 2 85661740 85661741 + RNA INS - - A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 85661740 85661741 - A INS ENSG00000207207 ENST00000384478 human ensembl 70_37 +1 novel rna NULL NULL 0.003:0.006 - - - no_errors Y_RNA RFAM ENSG00000225411 0 genome.wustl.edu 37 9 68400591 68400591 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 68400591 68400591 C T SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000230393 0 genome.wustl.edu 37 2 100722591 100722591 + RNA SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 100722591 100722591 G C SNP ENSG00000230393 ENST00000434301 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AC092667.2 Clone_based_vega_gene ENSG00000248302 0 genome.wustl.edu 37 4 49846 49846 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 49846 49846 C T SNP ENSG00000248302 ENST00000596885 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors Z95704.4 Clone_based_vega_gene ENSG00000261008 0 genome.wustl.edu 37 16 72460517 72460517 + RNA SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 72460517 72460517 G T SNP ENSG00000261008 ENST00000561611 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC004158.2 Clone_based_vega_gene ENSG00000267075 0 genome.wustl.edu 37 17 20450493 20450493 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 20450493 20450493 C T SNP ENSG00000267075 ENST00000591705 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ERLIN2 11160 genome.wustl.edu 37 8 37597898 37597898 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 37597898 37597898 G T SNP ERLIN2 ENST00000276461 human ensembl 70_37 +1 known silent c.123 p.L41 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN2 HGNC FLYWCH2 114984 genome.wustl.edu 37 16 2948899 2948899 + RNA SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 2948899 2948899 G A SNP FLYWCH2 ENST00000572786 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLYWCH2 HGNC FMNL1 752 genome.wustl.edu 37 17 43322670 43322670 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 43322670 43322670 G C SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.2779 p.E927Q 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FUCA2 2519 genome.wustl.edu 37 6 143825236 143825236 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 143825236 143825236 G T SNP FUCA2 ENST00000002165 human ensembl 70_37 -1 known missense c.566 p.P189Q 0.999 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC GAA 2548 genome.wustl.edu 37 17 78086486 78086486 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 78086486 78086486 G T SNP GAA ENST00000302262 human ensembl 70_37 +1 known nonsense c.1864 p.E622* 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC GALNT14 79623 genome.wustl.edu 37 2 31147626 31147626 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 31147626 31147626 C A SNP GALNT14 ENST00000349752 human ensembl 70_37 -1 known missense c.1215 p.E405D 0.898 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC GCKR 2646 genome.wustl.edu 37 2 27731095 27731095 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 27731095 27731095 G C SNP GCKR ENST00000264717 human ensembl 70_37 +1 known missense c.1399 p.E467Q 0.977 NULL NULL - no_errors GCKR HGNC GFPT2 9945 genome.wustl.edu 37 5 179744046 179744046 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 179744046 179744046 G A SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.971 p.A324V 0.989 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GRK1 6011 genome.wustl.edu 37 13 114325861 114325861 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 13 114325861 114325861 C T SNP GRK1 ENST00000335678 human ensembl 70_37 +1 known missense c.875 p.P292L 0.904 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,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK1 HGNC GRM6 2916 genome.wustl.edu 37 5 178418866 178418866 + Splice_Site SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 178418866 178418866 A C SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known splice_site c.721+2 e2+2 1.000 - - - no_errors GRM6 HGNC GSN 2934 genome.wustl.edu 37 9 124079435 124079435 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 124079435 124079435 G C SNP GSN ENST00000373818 human ensembl 70_37 +1 known silent c.978 p.L326 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC GUCY1A2 2977 genome.wustl.edu 37 11 106680942 106680942 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 106680942 106680942 G T SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.1469 p.T490K 1.000 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC IFNA10 3446 genome.wustl.edu 37 9 21206637 21206637 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 21206637 21206637 G C SNP IFNA10 ENST00000357374 human ensembl 70_37 -1 known missense c.460 p.L154V 0.043 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC IGSF22 283284 genome.wustl.edu 37 11 18733675 18733675 + Silent SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 18733675 18733675 C G SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known silent c.2352 p.V784 0.099 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC IL5 3567 genome.wustl.edu 37 5 131879168 131879168 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 131879168 131879168 C A SNP IL5 ENST00000231454 human ensembl 70_37 -1 known missense c.3 p.M1I 0.698 NULL pfam_Interleukin_5,superfamily_4_helix_cytokine-like_core,prints_Interleukin_5 - no_errors IL5 HGNC INHBB 3625 genome.wustl.edu 37 2 121107209 121107209 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 121107209 121107209 A G SNP INHBB ENST00000295228 human ensembl 70_37 +1 known missense c.983 p.Y328C 0.963 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC IPO11 51194 genome.wustl.edu 37 5 61786023 61786023 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 61786023 61786023 C G SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known missense c.1559 p.P520R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC IPPK 64768 genome.wustl.edu 37 9 95418824 95418824 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 95418824 95418824 C T SNP IPPK ENST00000287996 human ensembl 70_37 -1 known missense c.139 p.E47K 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ITGA4 3676 genome.wustl.edu 37 2 182346369 182346369 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 182346369 182346369 G T SNP ITGA4 ENST00000397033 human ensembl 70_37 +1 known nonsense c.799 p.E267* 0.999 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC JAKMIP1 152789 genome.wustl.edu 37 4 6042435 6042435 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 6042435 6042435 G A SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known silent c.2106 p.F702 1.000 NULL NULL - no_errors JAKMIP1 HGNC KCNK2 3776 genome.wustl.edu 37 1 215342651 215342651 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 215342651 215342651 G T SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known missense c.585 p.Q195H 1.000 pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC KCNMB3 27094 genome.wustl.edu 37 3 178957772 178957772 + RNA SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 178957772 178957772 C T SNP KCNMB3 ENST00000486944 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors KCNMB3 HGNC KIAA1551 55196 genome.wustl.edu 37 12 32135838 32135838 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 32135838 32135838 G A SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known missense c.1949 p.C650Y 0.000 NULL NULL - no_errors KIAA1551 HGNC KLHL15 80311 genome.wustl.edu 37 X 24006341 24006341 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 24006341 24006341 G A SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known silent c.1512 p.F504 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC L1CAM 3897 genome.wustl.edu 37 X 153133907 153133907 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 153133907 153133907 G C SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.1559 p.T520S 0.998 pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC LATS1 9113 genome.wustl.edu 37 6 149997435 149997435 + Silent SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 149997435 149997435 A C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known silent c.2844 p.P948 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LHFPL5 222662 genome.wustl.edu 37 6 35773528 35773528 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 35773528 35773528 G C SNP LHFPL5 ENST00000360215 human ensembl 70_37 +1 known silent c.81 p.V27 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC LMTK3 114783 genome.wustl.edu 37 19 48994757 48994757 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 48994757 48994757 C T SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.4219 p.E1407K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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 - no_errors LMTK3 HGNC LOC285556 285556 genome.wustl.edu 37 4 100573672 100573672 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 100573672 100573672 A G SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative missense c.2134 p.S712P 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene LPIN2 9663 genome.wustl.edu 37 18 2951060 2951060 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 18 2951060 2951060 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.583 p.A195T 0.760 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135756518 135756518 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 135756518 135756518 G A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.364 p.H122Y 0.658 NULL 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 MAP3K19 HGNC MED20 9477 genome.wustl.edu 37 6 41874892 41874892 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 41874892 41874892 G T SNP MED20 ENST00000265350 human ensembl 70_37 -1 known missense c.557 p.P186Q 1.000 pfam_Mediator_Med20 pfam_Mediator_Med20 - no_errors MED20 HGNC MEGF11 84465 genome.wustl.edu 37 15 66223260 66223260 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 66223260 66223260 A G SNP MEGF11 ENST00000409699 human ensembl 70_37 -1 known missense c.1309 p.C437R 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC MGAM 8972 genome.wustl.edu 37 7 141708379 141708379 + Silent SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 141708379 141708379 C A SNP MGAM ENST00000549489 human ensembl 70_37 +1 known silent c.201 p.T67 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MTPAP 55149 genome.wustl.edu 37 10 30615518 30615518 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 10 30615518 30615518 G A SNP MTPAP ENST00000358107 human ensembl 70_37 -1 known missense c.1217 p.S406L 1.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC MYADML 151325 genome.wustl.edu 37 2 33952432 33952432 + RNA SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 33952432 33952432 G A SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC NEK7 140609 genome.wustl.edu 37 1 198231733 198231733 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 198231733 198231733 G T SNP NEK7 ENST00000367385 human ensembl 70_37 +1 known missense c.227 p.R76L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC NFKB1 4790 genome.wustl.edu 37 4 103501695 103501695 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 103501695 103501695 C A SNP NFKB1 ENST00000226574 human ensembl 70_37 +1 known missense c.734 p.A245D 1.000 superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC NLRX1 79671 genome.wustl.edu 37 11 119045734 119045734 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 119045734 119045734 G C SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known silent c.1422 p.L474 0.988 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NLRX1 79671 genome.wustl.edu 37 11 119050694 119050694 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 119050694 119050694 C T SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.1964 p.A655V 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NNMT 4837 genome.wustl.edu 37 11 114183193 114183193 + Silent SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 114183193 114183193 C A SNP NNMT ENST00000299964 human ensembl 70_37 +1 known silent c.789 p.P263 0.029 NULL pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC NOVA1 4857 genome.wustl.edu 37 14 27018905 27018905 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 27018905 27018905 G C SNP NOVA1 ENST00000483536 human ensembl 70_37 -1 known missense c.363 p.D121E 1.000 NULL pfam_KH_dom_type_1,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NPIPA1 9284 genome.wustl.edu 37 16 15024568 15024568 + RNA SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 16 15024568 15024568 A G SNP NPIP ENST00000472413 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIP HGNC NXF1 10482 genome.wustl.edu 37 11 62567871 62567871 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 62567871 62567871 G T SNP NXF1 ENST00000294172 human ensembl 70_37 -1 known silent c.994 p.R332 0.998 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC OR5M8 219484 genome.wustl.edu 37 11 56258761 56258761 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 56258761 56258761 A G SNP OR5M8 ENST00000327216 human ensembl 70_37 -1 known missense c.86 p.L29P 0.062 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC OS9 10956 genome.wustl.edu 37 12 58088581 58088581 + Missense_Mutation SNP T T A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 58088581 58088581 T A SNP OS9 ENST00000315970 human ensembl 70_37 +1 known missense c.211 p.Y71N 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC PADI1 29943 genome.wustl.edu 37 1 17548870 17548870 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 17548870 17548870 A G SNP PADI1 ENST00000375471 human ensembl 70_37 +1 known missense c.178 p.K60E 0.256 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC PARD3B 117583 genome.wustl.edu 37 2 206036980 206036980 + Nonsense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 2 206036980 206036980 G T SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known nonsense c.1666 p.E556* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC PCDHGA8 9708 genome.wustl.edu 37 5 140772400 140772400 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 140772400 140772400 G A SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.20 p.R7H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178927432 178927432 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 178927432 178927432 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1195 p.A399T 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PLXNA1 5361 genome.wustl.edu 37 3 126723998 126723998 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 126723998 126723998 C T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known silent c.1809 p.F603 0.998 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC PMP2 5375 genome.wustl.edu 37 8 82357088 82357088 + Missense_Mutation SNP T T A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 82357088 82357088 T A SNP PMP2 ENST00000256103 human ensembl 70_37 -1 known missense c.210 p.E70D 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors PMP2 HGNC POLG 5428 genome.wustl.edu 37 15 89864364 89864364 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 89864364 89864364 C A SNP POLG ENST00000268124 human ensembl 70_37 -1 known missense c.2726 p.G909V 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC POLR1D 51082 genome.wustl.edu 37 13 28240167 28240167 + RNA SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 13 28240167 28240167 G A SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors POLR1D HGNC POM121L2 94026 genome.wustl.edu 37 6 27279745 27279745 + Missense_Mutation SNP T T C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 27279745 27279745 T C SNP POM121L2 ENST00000444565 human ensembl 70_37 -1 known missense c.205 p.T69A 0.000 NULL NULL - no_errors POM121L2 HGNC PRKAG2 51422 genome.wustl.edu 37 7 151478481 151478481 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 151478481 151478481 C T SNP PRKAG2 ENST00000287878 human ensembl 70_37 -1 known missense c.223 p.G75R 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG2 HGNC PRR16 51334 genome.wustl.edu 37 5 119800238 119800238 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 119800238 119800238 G T SNP PRR16 ENST00000407149 human ensembl 70_37 +1 known silent c.57 p.P19 1.000 NULL NULL - no_errors PRR16 HGNC PSMC1 5700 genome.wustl.edu 37 14 90726515 90726515 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 90726515 90726515 G C SNP PSMC1 ENST00000261303 human ensembl 70_37 +1 known missense c.114 p.K38N 1.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC PTCHD4 442213 genome.wustl.edu 37 6 48036318 48036318 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 48036318 48036318 C T SNP PTCHD4 ENST00000339488 human ensembl 70_37 -1 known missense c.74 p.R25K 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC RAD50 10111 genome.wustl.edu 37 5 131893139 131893139 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 131893139 131893139 A G SNP RAD50 ENST00000265335 human ensembl 70_37 +1 known silent c.123 p.G41 0.999 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC RAET1G 353091 genome.wustl.edu 37 6 150238164 150238164 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 150238164 150238164 C A SNP RAET1G ENST00000367360 human ensembl 70_37 -1 known missense c.889 p.V297L 0.006 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC RARS2 57038 genome.wustl.edu 37 6 88273904 88273904 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 88273904 88273904 C A SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.157 p.D53Y 0.022 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC RBM10 8241 genome.wustl.edu 37 X 47045755 47045755 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 47045755 47045755 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.2636 p.R879H 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RBMX2 51634 genome.wustl.edu 37 X 129543342 129543342 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 129543342 129543342 C T SNP RBMX2 ENST00000305536 human ensembl 70_37 +1 known silent c.285 p.D95 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC RELN 5649 genome.wustl.edu 37 7 103183222 103183222 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 103183222 103183222 G T SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.6627 p.G2209 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RNF125 54941 genome.wustl.edu 37 18 29645950 29645950 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 18 29645950 29645950 C G SNP RNF125 ENST00000217740 human ensembl 70_37 +1 known missense c.590 p.T197S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC RNF126 55658 genome.wustl.edu 37 19 651748 651748 + Silent SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 651748 651748 A C SNP RNF126 ENST00000292363 human ensembl 70_37 -1 known silent c.306 p.A102 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ROS1 6098 genome.wustl.edu 37 6 117710731 117710731 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 117710731 117710731 C A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.1541 p.G514V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC S1PR1 1901 genome.wustl.edu 37 1 101705515 101705515 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 101705515 101705515 C T SNP S1PR1 ENST00000305352 human ensembl 70_37 +1 known silent c.975 p.I325 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_EDG1_rcpt,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC SALL4 57167 genome.wustl.edu 37 20 50408527 50408527 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 20 50408527 50408527 G T SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known silent c.495 p.P165 0.121 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC SCAF11 9169 genome.wustl.edu 37 12 46320408 46320408 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 46320408 46320408 C T SNP SCAF11 ENST00000369367 human ensembl 70_37 -1 known missense c.3076 p.E1026K 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC SCAF11 9169 genome.wustl.edu 37 12 46320695 46320695 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 46320695 46320695 C T SNP SCAF11 ENST00000369367 human ensembl 70_37 -1 known missense c.2789 p.R930K 0.995 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC SCGN 10590 genome.wustl.edu 37 6 25689739 25689739 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 25689739 25689739 A G SNP SCGN ENST00000377961 human ensembl 70_37 +1 known silent c.612 p.K204 0.996 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors SCGN HGNC SHROOM3 57619 genome.wustl.edu 37 4 77659914 77659914 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 77659914 77659914 C A SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.588 p.S196R 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC SIT1 27240 genome.wustl.edu 37 9 35649944 35649944 + Silent SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 35649944 35649944 G C SNP SIT1 ENST00000259608 human ensembl 70_37 -1 known silent c.492 p.P164 0.000 NULL NULL - no_errors SIT1 HGNC SLC26A4 5172 genome.wustl.edu 37 7 107314773 107314773 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 107314773 107314773 C T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known silent c.580 p.L194 0.985 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC SLC29A1 2030 genome.wustl.edu 37 6 44199824 44199824 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 44199824 44199824 C T SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known silent c.1191 p.I397 0.123 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC SLC2A6 11182 genome.wustl.edu 37 9 136343502 136343502 + Silent SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 9 136343502 136343502 G A SNP SLC2A6 ENST00000371899 human ensembl 70_37 -1 known silent c.129 p.F43 0.987 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC SLC43A3 29015 genome.wustl.edu 37 11 57185336 57185336 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 57185336 57185336 G A SNP SLC43A3 ENST00000352187 human ensembl 70_37 -1 known missense c.556 p.L186F 0.916 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC SLC44A2 57153 genome.wustl.edu 37 19 10753987 10753987 + Missense_Mutation SNP G G A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 10753987 10753987 G A SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known missense c.2047 p.E683K 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC SLC7A9 11136 genome.wustl.edu 37 19 33359429 33359429 + Silent SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 33359429 33359429 A G SNP SLC7A9 ENST00000023064 human ensembl 70_37 -1 known silent c.12 p.T4 0.000 NULL pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC SPNS2 124976 genome.wustl.edu 37 17 4436544 4436544 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 4436544 4436544 C G SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known missense c.1095 p.I365M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC SULF2 55959 genome.wustl.edu 37 20 46311744 46311744 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 20 46311744 46311744 C A SNP SULF2 ENST00000359930 human ensembl 70_37 -1 known missense c.1058 p.G353V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC SYNE3 161176 genome.wustl.edu 37 14 95912341 95912341 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 95912341 95912341 C G SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.1537 p.E513Q 0.956 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC SYT13 57586 genome.wustl.edu 37 11 45275950 45275950 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 45275950 45275950 C G SNP SYT13 ENST00000020926 human ensembl 70_37 -1 known missense c.415 p.V139L 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT13 HGNC SYTL2 54843 genome.wustl.edu 37 11 85407429 85407429 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 85407429 85407429 G T SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.4994 p.T1665N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TMC8 147138 genome.wustl.edu 37 17 76128481 76128481 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 17 76128481 76128481 C A SNP TMC8 ENST00000318430 human ensembl 70_37 +1 known missense c.340 p.R114S 0.944 NULL pfam_TMC - no_errors TMC8 HGNC TMEM120B 144404 genome.wustl.edu 37 12 122212993 122212993 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 122212993 122212993 C G SNP TMEM120B ENST00000342607 human ensembl 70_37 +1 known missense c.863 p.T288R 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC TMEM138 51524 genome.wustl.edu 37 11 61136174 61136174 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 61136174 61136174 G T SNP TMEM138 ENST00000278826 human ensembl 70_37 +1 known missense c.482 p.R161L 0.996 NULL NULL - no_errors TMEM138 HGNC TP63 8626 genome.wustl.edu 37 3 189582097 189582097 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 3 189582097 189582097 C T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.656 p.P219L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC TRERF1 55809 genome.wustl.edu 37 6 42236026 42236026 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 42236026 42236026 C A SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.1303 p.D435Y 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC TRIP11 9321 genome.wustl.edu 37 14 92484032 92484032 + Silent SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 14 92484032 92484032 G T SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known silent c.651 p.I217 0.939 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRRAP 8295 genome.wustl.edu 37 7 98547391 98547391 + Missense_Mutation SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 98547391 98547391 C T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.5041 p.R1681C 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TXNDC5 81567 genome.wustl.edu 37 6 7895362 7895362 + Missense_Mutation SNP T T G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 6 7895362 7895362 T G SNP TXNDC5 ENST00000379757 human ensembl 70_37 -1 known missense c.593 p.N198T 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC UBR1 197131 genome.wustl.edu 37 15 43335480 43335480 + Silent SNP T T C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 15 43335480 43335480 T C SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known silent c.1782 p.E594 0.975 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC UGT2B10 7365 genome.wustl.edu 37 4 69692182 69692182 + Missense_Mutation SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 4 69692182 69692182 C A SNP UGT2B10 ENST00000265403 human ensembl 70_37 +1 known missense c.1054 p.L352M 0.014 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC UNC93B1 81622 genome.wustl.edu 37 11 67759287 67759287 + Silent SNP C C A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 11 67759287 67759287 C A SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known silent c.1521 p.A507 0.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC VEZT 55591 genome.wustl.edu 37 12 95663916 95663916 + Missense_Mutation SNP G G C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 12 95663916 95663916 G C SNP VEZT ENST00000436874 human ensembl 70_37 +1 known missense c.800 p.R267T 1.000 NULL NULL - no_errors VEZT HGNC VWA5B1 127731 genome.wustl.edu 37 1 20645121 20645121 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 1 20645121 20645121 G T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.748 p.A250S 0.991 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC XKR9 389668 genome.wustl.edu 37 8 71646350 71646350 + Silent SNP T T A TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 8 71646350 71646350 T A SNP XKR9 ENST00000408926 human ensembl 70_37 +1 known silent c.813 p.L271 0.044 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC XKRX 402415 genome.wustl.edu 37 X 100169463 100169463 + Missense_Mutation SNP A A C TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 100169463 100169463 A C SNP XKRX ENST00000328526 human ensembl 70_37 -1 known missense c.1253 p.L418W 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ZAN 7455 genome.wustl.edu 37 7 100365528 100365528 + Silent SNP C C T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 100365528 100365528 C T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.4935 p.L1645 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZNF283 284349 genome.wustl.edu 37 19 44351423 44351423 + Missense_Mutation SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 44351423 44351423 C G SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.670 p.Q224E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ZNF599 148103 genome.wustl.edu 37 19 35258275 35258275 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 35258275 35258275 G T SNP ZNF599 ENST00000329285 human ensembl 70_37 -1 known missense c.187 p.H63N 0.000 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 ZNF599 HGNC ZNF783 100289678 genome.wustl.edu 37 7 148964012 148964012 + Missense_Mutation SNP A A G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 7 148964012 148964012 A G SNP ZNF783 ENST00000434415 human ensembl 70_37 +1 known missense c.523 p.N175D 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 ZNF783 HGNC ZNF81 347344 genome.wustl.edu 37 X 47755252 47755252 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed X 47755252 47755252 G T SNP ZNF81 ENST00000338637 human ensembl 70_37 +1 known missense c.190 p.V64F 0.699 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 ZNF81 HGNC ZNF833P 401898 genome.wustl.edu 37 19 11796725 11796725 + RNA SNP C C G TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 19 11796725 11796725 C G SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors ZNF833P HGNC ZRSR1 7310 genome.wustl.edu 37 5 112228015 112228015 + Missense_Mutation SNP G G T TCGA-R2-A69V-01A-11D-A32I-09 TCGA-R2-A69V-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 14e16f58-9c59-458e-bea5-426b858e81e6 31d332f4-54a6-44f0-bf12-0576e83c21ed 5 112228015 112228015 G T SNP ZRSR1 ENST00000391338 human ensembl 70_37 +1 known missense c.679 p.D227Y 0.999 smart_RRM_dom_euk,pfscan_RRM_dom pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC