Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ATXN7L2 0 genome.wustl.edu 37 1 110030320 110030320 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 110030320 110030320 C T SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known silent c.594 p.I198 0.022 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 167 0 0 61 38 38.3838 TNFRSF18 0 genome.wustl.edu 37 1 1139225 1139225 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 1139225 1139225 C T SNP TNFRSF18 ENST00000328596 human ensembl 74_37 -1 known missense c.514 p.E172K 0.999 NULL prints_TNFR_18 - no_errors TNFRSF18 HGNC ENSG00000186891 20 0 0 9 8 47.0588 LYSMD1 0 genome.wustl.edu 37 1 151137589 151137589 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 151137589 151137589 G A SNP LYSMD1 ENST00000368908 human ensembl 74_37 -1 known missense c.146 p.T49I 1.000 pfam_LysM_dom,smart_LysM_dom pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD1 HGNC ENSG00000163155 75 0 0 70 22 23.913 LCE1C 0 genome.wustl.edu 37 1 152777811 152777811 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 152777811 152777811 G A SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known silent c.144 p.S48 0.507 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 176 0 0 97 38 28.1481 FBLIM1 0 genome.wustl.edu 37 1 16091544 16091544 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 16091544 16091544 C T SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known silent c.66 p.R22 0.039 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 154 0 0 42 38 47.5 CROCC 0 genome.wustl.edu 37 1 17280821 17280821 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 17280821 17280821 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.3290 p.R1097Q 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 146 0 0 26 16 38.0952 KIF21B 0 genome.wustl.edu 37 1 200946359 200946359 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 200946359 200946359 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.4306 p.R1436C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 207 0 0 37 85 69.6721 CAMK1G 0 genome.wustl.edu 37 1 209776629 209776629 + Missense_Mutation SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 209776629 209776629 C A SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known missense c.292 p.Q98K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1G HGNC ENSG00000008118 64 0 0 29 35 54.6875 HSD11B1 0 genome.wustl.edu 37 1 209907742 209907742 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 209907742 209907742 G A SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known missense c.755 p.R252H 0.534 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 110 0 0 118 32 21.3333 HSPG2 0 genome.wustl.edu 37 1 22216489 22216489 + Nonsense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 22216489 22216489 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known nonsense c.559 p.R187* 1.000 smart_SEA_dom,pfscan_SEA_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 134 0 0 55 26 32.0988 MAP7D1 0 genome.wustl.edu 37 1 36638140 36638140 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 36638140 36638140 G A SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.536 p.R179Q 0.999 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 33 0 0 4 14 77.7778 GRIK3 0 genome.wustl.edu 37 1 37291298 37291298 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 1 37291298 37291298 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1660 p.V554I 0.990 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 104 0 0 26 16 38.0952 CPXM2 0 genome.wustl.edu 37 10 125521395 125521395 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 125521395 125521395 G A SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known silent c.1770 p.V590 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 29 0 0 12 9 42.8571 KNDC1 0 genome.wustl.edu 37 10 135027203 135027203 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 135027203 135027203 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.4504 p.V1502I 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 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 ENSG00000171798 76 0 0 20 11 35.4839 DKK1 0 genome.wustl.edu 37 10 54074788 54074788 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 54074788 54074788 C T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.349 p.R117C 1.000 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 51 0 0 16 14 46.6667 TACR2 0 genome.wustl.edu 37 10 71168822 71168822 + Silent SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 71168822 71168822 G T SNP TACR2 ENST00000373306 human ensembl 74_37 -1 known silent c.597 p.L199 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 29 0 0 10 3 23.0769 KCNMA1 0 genome.wustl.edu 37 10 78651335 78651335 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 78651335 78651335 C T SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.3302 p.R1101H 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 72 0 0 15 10 40 GATA3 0 genome.wustl.edu 37 10 8106093 8106093 + Nonsense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 8106093 8106093 C T SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known nonsense c.916 p.R306* 1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 143 0 0 33 32 49.2308 TUBB8 0 genome.wustl.edu 37 10 93747 93747 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 10 93747 93747 G A SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known silent c.585 p.N195 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 228 0 0 69 46 40 VPS11 0 genome.wustl.edu 37 11 118942330 118942330 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 118942330 118942330 T C SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.658 p.Y220H 1.000 superfamily_WD40_repeat_dom,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 73 0 0 19 14 42.4242 TSPAN32 0 genome.wustl.edu 37 11 2324041 2324041 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 2324041 2324041 A G SNP TSPAN32 ENST00000339046 human ensembl 74_37 +1 known missense c.1 p.M1V 0.000 NULL pfam_Tetraspanin/Peripherin - no_errors TSPAN32 HGNC ENSG00000064201 28 0 0 13 4 23.5294 OR4A16 0 genome.wustl.edu 37 11 55111155 55111155 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 55111155 55111155 T C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.479 p.F160S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 172 0 0 63 58 47.9339 MS4A14 0 genome.wustl.edu 37 11 60183076 60183076 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 60183076 60183076 T C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.635 p.L212P 0.001 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 129 0 0 94 8 7.84314 ZBTB3 0 genome.wustl.edu 37 11 62520911 62520911 + Missense_Mutation SNP A A C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 62520911 62520911 A C SNP ZBTB3 ENST00000394807 human ensembl 74_37 -1 known missense c.376 p.F126V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 152 0 0 48 36 42.8571 CCDC88B 0 genome.wustl.edu 37 11 64119679 64119679 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 64119679 64119679 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known silent c.3177 p.A1059 0.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 43 0 0 11 6 35.2941 ATG2A 0 genome.wustl.edu 37 11 64664314 64664314 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 64664314 64664314 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known silent c.5184 p.G1728 0.999 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 82 0 0 26 12 31.5789 SLC29A2 0 genome.wustl.edu 37 11 66131742 66131742 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 66131742 66131742 C T SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.1213 p.V405I 0.079 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 41 0 0 6 6 50 SYTL2 0 genome.wustl.edu 37 11 85447544 85447544 + Missense_Mutation SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 85447544 85447544 C A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.586 p.D196Y 1.000 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 43 0 0 14 10 41.6667 FAT3 0 genome.wustl.edu 37 11 92600253 92600253 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 11 92600253 92600253 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12005 p.R4002H 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 19 0 0 4 5 55.5556 FAM71C 0 genome.wustl.edu 37 12 100042168 100042168 + Silent SNP C C G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 100042168 100042168 C G SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known silent c.216 p.G72 0.245 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 122 0 0 56 35 38.4615 ANO4 0 genome.wustl.edu 37 12 101295492 101295492 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 101295492 101295492 C T SNP ANO4 ENST00000538618 human ensembl 74_37 +1 known missense c.427 p.R143C 1.000 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 144 0 0 39 26 40 UBE3B 0 genome.wustl.edu 37 12 109940856 109940856 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 109940856 109940856 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known silent c.1311 p.S437 0.002 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 170 0 0 54 32 37.2093 CUX2 0 genome.wustl.edu 37 12 111758426 111758426 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 111758426 111758426 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.2613 p.Y871 0.963 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 18 0 0 12 4 25 OAS2 0 genome.wustl.edu 37 12 113448265 113448265 + Missense_Mutation SNP T T A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 113448265 113448265 T A SNP OAS2 ENST00000342315 human ensembl 74_37 +1 known missense c.2136 p.N712K 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 362 0 0 102 103 50.2439 NOS1 0 genome.wustl.edu 37 12 117768758 117768758 + Silent SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 117768758 117768758 C A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.117 p.P39 0.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 119 0 0 39 22 36.0656 PTPRO 0 genome.wustl.edu 37 12 15669828 15669828 + Missense_Mutation SNP A A C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 15669828 15669828 A C SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.1717 p.M573L 0.993 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 187 0 0 67 57 45.9677 SCAF11 0 genome.wustl.edu 37 12 46322511 46322511 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 12 46322511 46322511 G A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.973 p.R325C 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 163 0 0 54 50 48.0769 COL4A1 0 genome.wustl.edu 37 13 110814658 110814658 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 110814658 110814658 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.4381 p.P1461S 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 456 0 0 112 111 49.7758 ING1 0 genome.wustl.edu 37 13 111372027 111372027 + Silent SNP A A C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 111372027 111372027 A C SNP ING1 ENST00000375774 human ensembl 74_37 +1 known silent c.1017 p.R339 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 86 0 0 29 26 47.2727 SGCG 0 genome.wustl.edu 37 13 23777841 23777841 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 23777841 23777841 G A SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.8 p.R3H 0.271 NULL pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 30 0 0 15 15 50 CDK8 0 genome.wustl.edu 37 13 26927934 26927934 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 26927934 26927934 C T SNP CDK8 ENST00000381527 human ensembl 74_37 +1 known missense c.373 p.R125W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK8 HGNC ENSG00000132964 49 0 0 17 28 62.2222 TNFSF11 0 genome.wustl.edu 37 13 43180928 43180928 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 43180928 43180928 C T SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known silent c.828 p.N276 0.680 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 157 0 0 49 39 44.3182 PCDH17 0 genome.wustl.edu 37 13 58207244 58207244 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 58207244 58207244 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.564 p.D188 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 47 0 0 23 15 39.4737 PCDH17 0 genome.wustl.edu 37 13 58208514 58208514 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 58208514 58208514 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1834 p.A612T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 86 0 0 34 21 38.1818 SLITRK5 0 genome.wustl.edu 37 13 88328838 88328838 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 13 88328838 88328838 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1195 p.E399K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 64 0 0 29 25 46.2963 WDR89 0 genome.wustl.edu 37 14 64066573 64066573 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 14 64066573 64066573 C T SNP WDR89 ENST00000267522 human ensembl 74_37 -1 known missense c.88 p.D30N 1.000 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR89 HGNC ENSG00000140006 148 0 0 36 31 46.2687 SYNE2 0 genome.wustl.edu 37 14 64568746 64568746 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 14 64568746 64568746 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.12478 p.G4160R 0.998 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 93 0 0 20 11 35.4839 SYNE3 0 genome.wustl.edu 37 14 95906301 95906301 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 14 95906301 95906301 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.2023 p.R675W 0.001 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 206 0 0 50 51 50.495 SNORD116-3 0 genome.wustl.edu 37 15 25302080 25302080 + RNA SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 25302080 25302080 G A SNP SNORD116-3 ENST00000384287 human ensembl 74_37 +1 known rna NULL NULL 0.433 - - - no_errors SNORD116-3 HGNC ENSG00000207014 234 0 0 77 58 42.963 SNORD116-20 0 genome.wustl.edu 37 15 25333051 25333051 + RNA SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 25333051 25333051 T C SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-20 HGNC ENSG00000261069 15 0 0 14 15 51.7241 SNHG14 0 genome.wustl.edu 37 15 25336782 25336782 + RNA SNP T T G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 25336782 25336782 T G SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 13 0 0 17 3 15 TP53BP1 0 genome.wustl.edu 37 15 43712539 43712539 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 43712539 43712539 C T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.4645 p.V1549M 1.000 pfam_53-BP1_Tudor pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 432 0 0 118 87 42.439 MYO5C 0 genome.wustl.edu 37 15 52511986 52511986 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 52511986 52511986 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.3755 p.R1252H 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 19 0 0 11 11 50 ABHD2 0 genome.wustl.edu 37 15 89719110 89719110 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 89719110 89719110 C T SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known silent c.606 p.V202 0.092 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 143 0 0 44 27 38.0282 IGF1R 0 genome.wustl.edu 37 15 99250962 99250962 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 15 99250962 99250962 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.266 p.R89Q 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 73 0 0 20 13 39.3939 DNAH3 0 genome.wustl.edu 37 16 21109952 21109952 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 16 21109952 21109952 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.2505 p.A835 0.077 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 220 0 0 70 49 41.1765 RPGRIP1L 0 genome.wustl.edu 37 16 53636047 53636047 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 16 53636047 53636047 C T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.3889 p.E1297K 0.995 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 39 0 0 25 17 40.4762 CDH11 0 genome.wustl.edu 37 16 65025710 65025710 + Missense_Mutation SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 16 65025710 65025710 G T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.772 p.L258M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 77 0 0 26 21 44.6809 CES2 0 genome.wustl.edu 37 16 66969399 66969399 + Missense_Mutation SNP A A T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 16 66969399 66969399 A T SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.53 p.Q18L 0.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 257 0 0 58 59 50.4274 KCTD19 0 genome.wustl.edu 37 16 67325658 67325658 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 16 67325658 67325658 G A SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known silent c.2301 p.P767 0.051 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 94 0 0 46 5 9.80392 NECAB2 0 genome.wustl.edu 37 16 84027967 84027967 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 16 84027967 84027967 C T SNP NECAB2 ENST00000305202 human ensembl 74_37 +1 known silent c.657 p.P219 0.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB2 HGNC ENSG00000103154 79 0 0 26 14 35 SREBF1 0 genome.wustl.edu 37 17 17716950 17716950 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 17 17716950 17716950 C T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.3125 p.R1042H 0.988 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 15 0 0 4 4 50 SOCS7 0 genome.wustl.edu 37 17 36521269 36521269 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 17 36521269 36521269 C T SNP SOCS7 ENST00000577233 human ensembl 74_37 +1 known missense c.1037 p.P346L 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 62 0 0 24 14 36.8421 RNF167 0 genome.wustl.edu 37 17 4846728 4846728 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 17 4846728 4846728 G A SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.584 p.R195H 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 45 0 0 13 9 40.9091 TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 17 7578265 7578265 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.584 p.I195T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 80 0 0 20 15 42.8571 RNF165 0 genome.wustl.edu 37 18 44013271 44013271 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 18 44013271 44013271 G A SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known silent c.180 p.S60 0.992 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 31 0 0 11 9 45 SALL3 0 genome.wustl.edu 37 18 76754622 76754622 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 18 76754622 76754622 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.2631 p.N877 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 108 0 0 18 18 50 OR7C1 0 genome.wustl.edu 37 19 14910098 14910098 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 19 14910098 14910098 A G SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.851 p.M284T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 165 0 0 54 31 36.4706 ZNF536 0 genome.wustl.edu 37 19 30934805 30934805 + Silent SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 19 30934805 30934805 C A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.336 p.G112 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 56 0 0 34 10 22.7273 FFAR3 0 genome.wustl.edu 37 19 35850557 35850557 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 19 35850557 35850557 G A SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known silent c.765 p.P255 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 519 1 0.192308 435 65 13 LRFN1 0 genome.wustl.edu 37 19 39798422 39798422 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 19 39798422 39798422 C T SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.2167 p.A723T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 23 0 0 5 19 79.1667 NKPD1 0 genome.wustl.edu 37 19 45656023 45656023 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 19 45656023 45656023 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1672 p.R558C 0.992 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 13 0 0 11 3 21.4286 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 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 ZNF814 HGNC ENSG00000204514 23 0 0 36 6 14.2857 SLC5A7 0 genome.wustl.edu 37 2 108626853 108626853 + Missense_Mutation SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 108626853 108626853 G T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.1279 p.V427F 0.889 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 116 0 0 37 39 51.3158 DPP10 0 genome.wustl.edu 37 2 116520170 116520170 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 116520170 116520170 C T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1109 p.T370M 0.977 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 147 0 0 74 37 33.3333 NEB 0 genome.wustl.edu 37 2 152522726 152522726 + Missense_Mutation SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 152522726 152522726 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.4909 p.A1637S 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 261 0 0 86 44 33.8462 LRP2 0 genome.wustl.edu 37 2 170096135 170096135 + Missense_Mutation SNP G G C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 170096135 170096135 G C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.4196 p.S1399C 0.913 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 142 0 0 38 48 55.814 CHRNA1 0 genome.wustl.edu 37 2 175612905 175612905 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 175612905 175612905 C T SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.1396 p.G466R 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 91 0 0 19 22 53.6585 APOB 0 genome.wustl.edu 37 2 21224623 21224623 + Silent SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 21224623 21224623 T C SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.13671 p.G4557 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 133 0 0 45 47 51.087 PAX3 0 genome.wustl.edu 37 2 223161736 223161736 + Silent SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 223161736 223161736 G T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known silent c.282 p.G94 0.911 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 48 0 0 9 8 47.0588 COL6A3 0 genome.wustl.edu 37 2 238267860 238267860 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 238267860 238267860 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.6343 p.D2115N 0.064 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 159 0 0 67 43 39.0909 KIF3C 0 genome.wustl.edu 37 2 26203628 26203628 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 26203628 26203628 T C SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1159 p.I387V 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 94 0 0 33 26 44.0678 NLRC4 0 genome.wustl.edu 37 2 32449563 32449563 + Silent SNP A A C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 32449563 32449563 A C SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known silent c.3054 p.A1018 0.074 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 134 0 0 47 39 45.3488 SOX11 0 genome.wustl.edu 37 2 5833487 5833487 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 5833487 5833487 G A SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.634 p.G212S 0.972 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 34 0 0 2 5 71.4286 PAPOLG 0 genome.wustl.edu 37 2 61019283 61019283 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 61019283 61019283 A G SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.1538 p.N513S 0.969 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 94 0 0 37 32 46.3768 CTNNA2 0 genome.wustl.edu 37 2 80646695 80646695 + Missense_Mutation SNP T T G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 80646695 80646695 T G SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1361 p.V454G 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 107 0 0 26 23 46.9388 EDEM2 0 genome.wustl.edu 37 20 33722667 33722667 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 20 33722667 33722667 C T SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known silent c.576 p.T192 0.265 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 103 0 0 59 20 25.3165 PRNP 0 genome.wustl.edu 37 20 4680251 4680251 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 20 4680251 4680251 A G SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.385 p.M129V 1.000 superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 105 0 0 75 5 6.25 DOPEY2 0 genome.wustl.edu 37 21 37595570 37595570 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 21 37595570 37595570 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.1292 p.T431M 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 114 0 0 42 28 40 CHEK2 0 genome.wustl.edu 37 22 29091862 29091862 + Splice_Site SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 22 29091862 29091862 C T SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known splice_site c.1225-1 e11-1 1.000 - - - no_errors CHEK2 HGNC ENSG00000183765 85 0 0 29 11 27.5 MIEF1 0 genome.wustl.edu 37 22 39910085 39910085 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 22 39910085 39910085 C T SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known silent c.1149 p.S383 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 130 0 0 58 17 22.6667 TNRC6B 0 genome.wustl.edu 37 22 40675998 40675998 + Splice_Site SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 22 40675998 40675998 G A SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known splice_site c.3263-1 e10-1 1.000 - - - no_errors TNRC6B HGNC ENSG00000100354 395 0 0 64 63 49.6063 MKL1 0 genome.wustl.edu 37 22 40831518 40831518 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 22 40831518 40831518 G A SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.48 p.S16 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 188 0 0 63 7 10 TUBGCP6 0 genome.wustl.edu 37 22 50657765 50657765 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 22 50657765 50657765 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.4436 p.T1479M 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 20 0 0 6 5 45.4545 CHST13 0 genome.wustl.edu 37 3 126260824 126260824 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 3 126260824 126260824 G A SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known silent c.429 p.A143 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 19 0 0 8 7 46.6667 ZIC1 0 genome.wustl.edu 37 3 147127956 147127956 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 3 147127956 147127956 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known silent c.57 p.A19 0.989 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 60 0 0 13 20 60.6061 SCAP 0 genome.wustl.edu 37 3 47461040 47461040 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 3 47461040 47461040 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1718 p.P573L 0.999 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 117 0 0 37 26 41.2698 SETD5 0 genome.wustl.edu 37 3 9515161 9515161 + Nonsense_Mutation SNP C C G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 3 9515161 9515161 C G SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known nonsense c.3437 p.S1146* 0.981 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 27 0 0 8 7 46.6667 CEP170P1 0 genome.wustl.edu 37 4 119461377 119461377 + RNA SNP G G C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 4 119461377 119461377 G C SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CEP170P1 HGNC ENSG00000154608 73 0 0 29 14 32.5581 SAP30 0 genome.wustl.edu 37 4 174292641 174292641 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 4 174292641 174292641 A G SNP SAP30 ENST00000296504 human ensembl 74_37 +1 known missense c.308 p.D103G 1.000 NULL NULL - no_errors SAP30 HGNC ENSG00000164105 60 0 0 19 9 32.1429 TRIML1 0 genome.wustl.edu 37 4 189060921 189060921 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 4 189060921 189060921 G A SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.209 p.R70H 0.002 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 164 0 0 44 37 45.679 ENSG00000253917 0 genome.wustl.edu 37 4 3949717 3949717 + RNA SNP C C G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 4 3949717 3949717 C G SNP ENSG00000253917 ENST00000281228 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 75 0 0 20 3 13.0435 NOA1 0 genome.wustl.edu 37 4 57843170 57843170 + Silent SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 4 57843170 57843170 C A SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known silent c.582 p.L194 0.949 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 35 0 0 10 9 47.3684 SIL1 0 genome.wustl.edu 37 5 138283124 138283124 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 138283124 138283124 C T SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known missense c.1068 p.M356I 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 59 0 0 17 11 39.2857 PCDHB10 0 genome.wustl.edu 37 5 140573733 140573733 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 140573733 140573733 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1608 p.R536 0.133 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 253 0 0 89 44 33.0827 PCDHGA12 0 genome.wustl.edu 37 5 140812691 140812691 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 140812691 140812691 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.2365 p.E789K 0.980 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 232 0 0 75 61 44.8529 EBF1 0 genome.wustl.edu 37 5 158204450 158204450 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 158204450 158204450 T C SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1007 p.K336R 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 141 0 0 33 26 44.0678 EBF1 0 genome.wustl.edu 37 5 158524122 158524122 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 158524122 158524122 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.151 p.R51W 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 36 0 0 9 11 55 HTR1A 0 genome.wustl.edu 37 5 63257336 63257336 + Missense_Mutation SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 63257336 63257336 C A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.211 p.A71S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 52 0 0 14 13 48.1481 CEP72 0 genome.wustl.edu 37 5 653170 653170 + Nonsense_Mutation SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 653170 653170 G T SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known nonsense c.1846 p.E616* 0.980 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 48 0 0 22 6 21.4286 GPR98 0 genome.wustl.edu 37 5 89949385 89949385 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 5 89949385 89949385 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3994 p.G1332R 1.000 superfamily_ConA-like_lec_gl_sf pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 40 0 0 15 11 42.3077 TRDN 0 genome.wustl.edu 37 6 123892166 123892166 + Missense_Mutation SNP C C G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 123892166 123892166 C G SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.134 p.S45T 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 146 0 0 34 25 42.3729 HECA 0 genome.wustl.edu 37 6 139487981 139487981 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 139487981 139487981 T C SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.832 p.S278P 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 52 0 0 12 11 47.8261 SYNE1 0 genome.wustl.edu 37 6 152782791 152782791 + Missense_Mutation SNP G G C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 152782791 152782791 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2335 p.Q779E 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 141 0 0 62 35 36.0825 C6orf118 0 genome.wustl.edu 37 6 165715750 165715750 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 165715750 165715750 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.61 p.V21M 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 135 0 0 34 21 38.1818 ZBTB12 0 genome.wustl.edu 37 6 31868438 31868438 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 31868438 31868438 C T SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known silent c.645 p.S215 0.002 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 221 0 0 43 24 35.8209 FARS2 0 genome.wustl.edu 37 6 5369064 5369064 + Missense_Mutation SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 5369064 5369064 G T SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.261 p.W87C 1.000 pfam_Phenylalanyl-tRNA_Synthase pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 70 0 0 32 20 38.4615 RIMS1 0 genome.wustl.edu 37 6 72984062 72984062 + Missense_Mutation SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 72984062 72984062 T C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3409 p.S1137P 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 52 0 0 12 20 62.5 UBE3D 0 genome.wustl.edu 37 6 83767716 83767716 + Missense_Mutation SNP T T A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 83767716 83767716 T A SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known missense c.103 p.M35L 0.025 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 60 0 0 21 12 36.3636 MDN1 0 genome.wustl.edu 37 6 90425471 90425471 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 6 90425471 90425471 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.6761 p.R2254H 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 187 0 0 57 49 46.2264 HOXA5 0 genome.wustl.edu 37 7 27183092 27183092 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 7 27183092 27183092 G A SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known silent c.135 p.Y45 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 89 0 0 29 10 25.641 ZC3H3 0 genome.wustl.edu 37 8 144620659 144620659 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 8 144620659 144620659 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.878 p.R293Q 0.006 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 264 0 0 108 56 34.1463 XPO7 0 genome.wustl.edu 37 8 21853032 21853032 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 8 21853032 21853032 G A SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.2294 p.R765Q 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 25 0 0 12 4 25 CHMP7 0 genome.wustl.edu 37 8 23114092 23114092 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 8 23114092 23114092 C T SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known silent c.777 p.S259 0.999 pfam_Snf7 pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 394 0 0 161 63 28.125 PRKDC 0 genome.wustl.edu 37 8 48734315 48734315 + Silent SNP T T C TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 8 48734315 48734315 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8958 p.T2986 0.321 pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 PRKDC HGNC ENSG00000253729 14 0 0 10 5 33.3333 CHD7 0 genome.wustl.edu 37 8 61693941 61693941 + Missense_Mutation SNP A A G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 8 61693941 61693941 A G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.2048 p.K683R 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 22 0 0 7 3 30 KCNB2 0 genome.wustl.edu 37 8 73849458 73849458 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 8 73849458 73849458 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1868 p.P623L 0.854 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 280 0 0 132 34 20.4819 STXBP1 0 genome.wustl.edu 37 9 130422369 130422369 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 130422369 130422369 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.307 p.H103Y 0.997 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 63 0 0 35 18 33.9623 CCBL1 0 genome.wustl.edu 37 9 131600026 131600026 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 131600026 131600026 C T SNP CCBL1 ENST00000436267 human ensembl 74_37 -1 known missense c.787 p.G263S 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL1 HGNC ENSG00000171097 118 0 0 36 13 26.5306 CRAT 0 genome.wustl.edu 37 9 131864271 131864271 + Missense_Mutation SNP C C A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 131864271 131864271 C A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.696 p.Q232H 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 87 0 0 19 13 40.625 CACNA1B 0 genome.wustl.edu 37 9 141014620 141014620 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 141014620 141014620 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6037 p.V2013I 0.014 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 16 0 0 3 5 62.5 KCNV2 0 genome.wustl.edu 37 9 2717764 2717764 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 2717764 2717764 C T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.25 p.R9W 0.005 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 135 0 0 49 32 39.5062 AQP7 0 genome.wustl.edu 37 9 33385751 33385751 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 33385751 33385751 G A SNP AQP7 ENST00000541274 human ensembl 74_37 -1 known missense c.244 p.R82W 0.732 NULL pfam_MIP,superfamily_Aquaporin-like - no_errors AQP7 HGNC ENSG00000165269 175 0 0 52 25 32.4675 NUTM2F 0 genome.wustl.edu 37 9 97084562 97084562 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 97084562 97084562 C T SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.763 p.E255K 0.870 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 153 0 0 49 19 27.9412 NUTM2G 0 genome.wustl.edu 37 9 99697659 99697659 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 9 99697659 99697659 G A SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.763 p.E255K 0.465 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 148 1 0.671141 54 7 11.4754 H2BFWT 0 genome.wustl.edu 37 X 103267817 103267817 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 103267817 103267817 C T SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known missense c.416 p.R139Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 77 0 0 20 18 47.3684 MID1 0 genome.wustl.edu 37 X 10535201 10535201 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 10535201 10535201 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known silent c.387 p.D129 0.230 smart_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 136 0 0 45 31 40.7895 DCAF12L1 0 genome.wustl.edu 37 X 125686485 125686485 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 125686485 125686485 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.107 p.P36L 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 129 0 0 39 33 45.8333 GPR50 0 genome.wustl.edu 37 X 150348958 150348958 + Silent SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 150348958 150348958 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known silent c.903 p.F301 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 261 0 0 82 58 41.4286 ZBED1 0 genome.wustl.edu 37 X 2408702 2408702 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 2408702 2408702 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.59 p.R20H 1.000 smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 269 0 0 89 55 38.1944 FAM47A 0 genome.wustl.edu 37 X 34148894 34148894 + Missense_Mutation SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 34148894 34148894 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1502 p.T501M 0.014 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 215 0 0 40 37 48.0519 CCDC120 0 genome.wustl.edu 37 X 48921440 48921440 + Missense_Mutation SNP C C T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 48921440 48921440 C T SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.337 p.R113W 0.983 pfam_DUF3338 pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 58 0 0 14 13 48.1481 CACNA1F 0 genome.wustl.edu 37 X 49066462 49066462 + Silent SNP G G T TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 49066462 49066462 G T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known silent c.4662 p.I1554 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 179 0 0 44 30 40.5405 NLGN4X 0 genome.wustl.edu 37 X 5821576 5821576 + Silent SNP G G A TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 X 5821576 5821576 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1203 p.D401 0.993 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 56 0 0 27 16 37.2093 C17orf76-AS1 0 genome.wustl.edu 37 17 16344535 16344536 + RNA DEL AT AT - TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 17 16344535 16344536 AT - DEL C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.741:0.997 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 78 0 0 32 16 33.3333 TGFBRAP1 0 genome.wustl.edu 37 2 105915160 105915161 + Frame_Shift_Ins INS - - G TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 2 105915160 105915161 - G INS TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known frame_shift_ins c.691_690 p.M230fs 1.000:1.000 pfam_Citron pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 61 0 0 29 11 27.5 ADAMTS1 0 genome.wustl.edu 37 21 28210011 28210011 + Frame_Shift_Del DEL T T - TCGA-HU-8244-01A-11D-2340-08 TCGA-HU-8244-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 546351c9-9781-4d3e-b438-9efb9c9aef76 40867769-91f2-4a41-8803-093dee0bec52 21 28210011 28210011 T - DEL ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known frame_shift_del c.2791 p.R931fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 169 0 0 58 32 35.5556