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 ABCA12 26154 genome.wustl.edu 37 2 215940284 215940284 + Frame_Shift_Del DEL A A - TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 215940284 215940284 A - DEL ABCA12 ENST00000412081 human ensembl 70_37 -1 novel frame_shift_del c.220 p.S74fs 0.082 NULL NULL - no_errors ABCA12 HGNC ADCY6 112 genome.wustl.edu 37 12 49167273 49167273 + Missense_Mutation SNP A A T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 49167273 49167273 A T SNP ADCY6 ENST00000307885 human ensembl 70_37 -1 known missense c.2600 p.L867Q 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ANAPC2 29882 genome.wustl.edu 37 9 140082506 140082506 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 9 140082506 140082506 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.167 p.R56Q 0.979 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130222712 130222712 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 130222712 130222712 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.1597 p.P533S 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100743681 100743681 + Silent SNP G G C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 100743681 100743681 G C SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.417 p.V139 0.973 NULL NULL - no_errors ARMCX4 HGNC ATXN7L3 56970 genome.wustl.edu 37 17 42274681 42274681 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 42274681 42274681 G A SNP ATXN7L3 ENST00000454077 human ensembl 70_37 -1 known missense c.271 p.R91C 1.000 pfam_SAGA_su_Sgf11 pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC BCL2L11 10018 genome.wustl.edu 37 2 111921762 111921763 + Frame_Shift_Ins INS - - A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 111921762 111921763 - A INS BCL2L11 ENST00000393256 human ensembl 70_37 +1 known frame_shift_ins c.551_552 p.R185fs 0.960:0.922 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC BSCL2 26580 genome.wustl.edu 37 11 62462159 62462159 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 62462159 62462159 G A SNP BSCL2 ENST00000360796 human ensembl 70_37 -1 known missense c.511 p.R171C 0.964 pfam_Adipose-reg_protein_Seipin pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC C16orf3 750 genome.wustl.edu 37 16 90095558 90095558 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 90095558 90095558 C T SNP C16orf3 ENST00000408886 human ensembl 70_37 -1 known missense c.193 p.G65S 0.000 NULL NULL - no_errors C16orf3 HGNC CACNG7 59284 genome.wustl.edu 37 19 54418666 54418666 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 54418666 54418666 G A SNP CACNG7 ENST00000222212 human ensembl 70_37 +1 known missense c.331 p.V111M 0.998 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC CADM1 23705 genome.wustl.edu 37 11 115375115 115375115 + RNA SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 115375115 115375115 C T SNP CADM1 ENST00000537140 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CADM1 HGNC CASK 8573 genome.wustl.edu 37 X 41419101 41419101 + Splice_Site SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 41419101 41419101 C T SNP CASK ENST00000378163 human ensembl 70_37 -1 known splice_site c.1669-1 e18-1 1.000 - - - no_errors CASK HGNC CHD6 84181 genome.wustl.edu 37 20 40141618 40141618 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 40141618 40141618 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.719 p.R240K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHRND 1144 genome.wustl.edu 37 2 233394711 233394711 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 233394711 233394711 C T SNP CHRND ENST00000441621 human ensembl 70_37 +1 known missense c.572 p.S191F 0.037 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRND HGNC CLEC14A 161198 genome.wustl.edu 37 14 38723786 38723786 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 38723786 38723786 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known missense c.1442 p.A481V 0.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC CNKSR1 10256 genome.wustl.edu 37 1 26513934 26513934 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 26513934 26513934 C A SNP CNKSR1 ENST00000374253 human ensembl 70_37 +1 known missense c.1436 p.P479H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC CNTNAP4 85445 genome.wustl.edu 37 16 76482704 76482704 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 76482704 76482704 C T SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known silent c.780 p.L260 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC COL9A2 1298 genome.wustl.edu 37 1 40773118 40773118 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 40773118 40773118 C T SNP COL9A2 ENST00000372748 human ensembl 70_37 -1 known silent c.1008 p.A336 0.992 NULL pfam_Collagen - no_errors COL9A2 HGNC COLEC12 81035 genome.wustl.edu 37 18 334982 334982 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 18 334982 334982 G T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1576 p.P526T 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC CSF2RB 1439 genome.wustl.edu 37 22 37330014 37330014 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 22 37330014 37330014 G A SNP CSF2RB ENST00000262825 human ensembl 70_37 +1 known silent c.1311 p.A437 0.002 superfamily_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC CSMD3 114788 genome.wustl.edu 37 8 113259313 113259313 + Missense_Mutation SNP T T A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 113259313 113259313 T A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.10158 p.Q3386H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CTNNBIP1 56998 genome.wustl.edu 37 1 9932074 9932074 + Nonsense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 9932074 9932074 G A SNP CTNNBIP1 ENST00000377256 human ensembl 70_37 -1 known nonsense c.49 p.Q17* 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC DAPP1 27071 genome.wustl.edu 37 4 100774415 100774415 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 4 100774415 100774415 G A SNP DAPP1 ENST00000512369 human ensembl 70_37 +1 known silent c.399 p.V133 1.000 NULL pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC DGKI 9162 genome.wustl.edu 37 7 137294323 137294323 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 137294323 137294323 C T SNP DGKI ENST00000424189 human ensembl 70_37 -1 known silent c.1026 p.K342 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC DIO3OS 64150 genome.wustl.edu 37 14 102024018 102024018 + RNA SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 102024018 102024018 G A SNP DIO3OS ENST00000554441 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors DIO3OS HGNC DMD 1756 genome.wustl.edu 37 X 32360321 32360321 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 32360321 32360321 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.5818 p.G1940R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMD 1756 genome.wustl.edu 37 X 32717261 32717261 + Nonsense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 32717261 32717261 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known nonsense c.799 p.Q267* 0.103 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMPK 1760 genome.wustl.edu 37 19 46285499 46285499 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 46285499 46285499 C T SNP DMPK ENST00000291270 human ensembl 70_37 -1 known missense c.112 p.A38T 0.020 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC DNAH6 1768 genome.wustl.edu 37 2 85012777 85012777 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 85012777 85012777 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.10997 p.R3666Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNASE1L1 1774 genome.wustl.edu 37 X 153631924 153631924 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 153631924 153631924 G A SNP DNASE1L1 ENST00000014935 human ensembl 70_37 -1 known silent c.351 p.N117 0.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC EFHB 151651 genome.wustl.edu 37 3 19926048 19926048 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 19926048 19926048 G A SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.1993 p.L665F 0.069 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC EFHC1 114327 genome.wustl.edu 37 6 52344532 52344532 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 52344532 52344532 G A SNP EFHC1 ENST00000371068 human ensembl 70_37 +1 known silent c.1587 p.A529 0.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC1 HGNC ENSG00000211459 0 genome.wustl.edu 37 MT 1407 1407 + RNA SNP T T C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db MT 1407 1407 T C SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000221497 0 genome.wustl.edu 37 21 17065603 17065603 + RNA SNP C C G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 21 17065603 17065603 C G SNP ENSG00000221497 ENST00000408570 human ensembl 70_37 +1 novel rna NULL NULL 0.016 - - - no_errors AL034449.1 Clone_based_ensembl_gene ENSG00000238261 0 genome.wustl.edu 37 1 143403499 143403499 + RNA SNP A A C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 143403499 143403499 A C SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000255258 0 genome.wustl.edu 37 11 133680183 133680183 + RNA SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 133680183 133680183 G A SNP ENSG00000255258 ENST00000530621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-448P19.1 Clone_based_vega_gene ERBB3 2065 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 56478854 56478854 G A SNP ERBB3 ENST00000267101 human ensembl 70_37 +1 known missense c.310 p.V104M 0.994 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC FGFR2 2263 genome.wustl.edu 37 10 123274794 123274794 + Missense_Mutation SNP T T C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 123274794 123274794 T C SNP FGFR2 ENST00000457416 human ensembl 70_37 -1 known missense c.1127 p.Y376C 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC FOXN3 1112 genome.wustl.edu 37 14 89647088 89647088 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 89647088 89647088 G A SNP FOXN3 ENST00000261302 human ensembl 70_37 -1 known missense c.874 p.R292W 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC FRMD6 122786 genome.wustl.edu 37 14 52171610 52171610 + Missense_Mutation SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 52171610 52171610 A G SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known missense c.515 p.H172R 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC GGNBP1 449520 genome.wustl.edu 37 6 33554459 33554459 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 33554459 33554459 C T SNP GGNBP1 ENST00000374458 human ensembl 70_37 +1 known missense c.110 p.S37L 0.048 NULL NULL - no_errors GGNBP1 HGNC GOLGA8M 653720 genome.wustl.edu 37 15 28950285 28950285 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 28950285 28950285 G T SNP GOLGA8M ENST00000340249 human ensembl 70_37 -1 known missense c.977 p.S326Y 0.002 NULL NULL - no_errors GOLGA8M HGNC HELZ2 85441 genome.wustl.edu 37 20 62202785 62202785 + RNA SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 62202785 62202785 A G SNP HELZ2 ENST00000479540 human ensembl 70_37 -1 known rna NULL NULL 0.741 - - - no_errors HELZ2 HGNC HOXC13 3229 genome.wustl.edu 37 12 54333151 54333151 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 54333151 54333151 C T SNP HOXC13 ENST00000243056 human ensembl 70_37 +1 known missense c.461 p.P154L 1.000 pfam_HoxA13_N pfam_Homeodomain,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HOXC13 HGNC HRNR 388697 genome.wustl.edu 37 1 152188861 152188861 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 152188861 152188861 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known silent c.5244 p.S1748 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HTR1F 3355 genome.wustl.edu 37 3 88040000 88040000 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 88040000 88040000 C A SNP HTR1F ENST00000319595 human ensembl 70_37 +1 known missense c.101 p.A34E 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1F HGNC IGFN1 91156 genome.wustl.edu 37 1 201176060 201176060 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 201176060 201176060 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.2039 p.G680E 0.032 NULL 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 IGFN1 HGNC INTS1 26173 genome.wustl.edu 37 7 1510583 1510583 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 1510583 1510583 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.6968 p.A2323V 0.998 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC IPO7 10527 genome.wustl.edu 37 11 9457893 9457893 + Missense_Mutation SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 9457893 9457893 A G SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known missense c.2248 p.K750E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC KCNJ11 3767 genome.wustl.edu 37 11 17408655 17408655 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 17408655 17408655 C T SNP KCNJ11 ENST00000339994 human ensembl 70_37 -1 known silent c.984 p.V328 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC KCNS1 3787 genome.wustl.edu 37 20 43726320 43726320 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 43726320 43726320 G A SNP KCNS1 ENST00000306117 human ensembl 70_37 -1 known silent c.1093 p.L365 0.999 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC KLHL15 80311 genome.wustl.edu 37 X 24006425 24006425 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 24006425 24006425 G A SNP KLHL15 ENST00000328046 human ensembl 70_37 -1 known silent c.1428 p.Y476 0.905 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 KLHL4 56062 genome.wustl.edu 37 X 86890562 86890562 + Splice_Site SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 86890562 86890562 G T SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known splice_site c.1713-1 e9-1 0.953 - - - no_errors KLHL4 HGNC KPNA7 402569 genome.wustl.edu 37 7 98775650 98775650 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 98775650 98775650 G A SNP KPNA7 ENST00000327442 human ensembl 70_37 -1 known silent c.1357 p.L453 0.775 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC LDHAL6B 92483 genome.wustl.edu 37 15 59500058 59500058 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 59500058 59500058 G A SNP LDHAL6B ENST00000307144 human ensembl 70_37 +1 known missense c.919 p.D307N 0.998 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC LHFPL1 340596 genome.wustl.edu 37 X 111914462 111914462 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 111914462 111914462 G T SNP LHFPL1 ENST00000371968 human ensembl 70_37 -1 known missense c.157 p.P53T 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC LOC101060495 101060495 genome.wustl.edu 37 11 134670 134670 + RNA SNP C C G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 134670 134670 C G SNP LOC101060495 ENST00000527683 human ensembl 70_37 -1 known rna NULL NULL 0.786 - - - no_errors RP11-304M2.2 Clone_based_vega_gene LSG1 55341 genome.wustl.edu 37 3 194373732 194373732 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 194373732 194373732 G A SNP LSG1 ENST00000265245 human ensembl 70_37 -1 known missense c.899 p.T300M 0.004 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC MCF2 4168 genome.wustl.edu 37 X 138774282 138774282 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db X 138774282 138774282 C A SNP MCF2 ENST00000370578 human ensembl 70_37 -1 known missense c.3 p.M1I 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC MEGF8 1954 genome.wustl.edu 37 19 42875608 42875608 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 42875608 42875608 G A SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known missense c.7243 p.D2415N 1.000 smart_EG-like_dom pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC MMP14 4323 genome.wustl.edu 37 14 23312944 23312944 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 23312944 23312944 G A SNP MMP14 ENST00000311852 human ensembl 70_37 +1 known silent c.876 p.K292 0.997 pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP14 HGNC MPP3 4356 genome.wustl.edu 37 17 41905135 41905135 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 41905135 41905135 G A SNP MPP3 ENST00000398389 human ensembl 70_37 -1 known silent c.507 p.G169 0.709 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP3 HGNC MSANTD1 345222 genome.wustl.edu 37 4 3251157 3251157 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 4 3251157 3251157 C T SNP MSANTD1 ENST00000438480 human ensembl 70_37 +1 known missense c.208 p.R70C 1.000 NULL NULL - no_errors MSANTD1 HGNC NF1 4763 genome.wustl.edu 37 17 29559809 29559809 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 29559809 29559809 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.3406 p.R1136W 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NR1H3 10062 genome.wustl.edu 37 11 47283254 47283254 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 47283254 47283254 C T SNP NR1H3 ENST00000441012 human ensembl 70_37 +1 known silent c.865 p.L289 0.997 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC NT5C2 22978 genome.wustl.edu 37 10 104913048 104913048 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 104913048 104913048 C A SNP NT5C2 ENST00000423468 human ensembl 70_37 -1 known missense c.14 p.G5V 1.000 superfamily_HAD-like_dom,pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC NTN3 4917 genome.wustl.edu 37 16 2521965 2521965 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 2521965 2521965 C A SNP NTN3 ENST00000293973 human ensembl 70_37 +1 known missense c.263 p.A88D 0.287 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC OR4A5 81318 genome.wustl.edu 37 11 51411741 51411741 + Missense_Mutation SNP G G C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 51411741 51411741 G C SNP OR4A5 ENST00000319760 human ensembl 70_37 -1 known missense c.655 p.L219V 0.067 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC OR4A5 81318 genome.wustl.edu 37 11 51412303 51412303 + Silent SNP G G C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 51412303 51412303 G C SNP OR4A5 ENST00000319760 human ensembl 70_37 -1 known silent c.93 p.L31 0.007 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC OR9G4 283189 genome.wustl.edu 37 11 56510605 56510605 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 56510605 56510605 G T SNP OR9G4 ENST00000302957 human ensembl 70_37 -1 known missense c.683 p.A228D 0.162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC PCDHGA1 56114 genome.wustl.edu 37 5 140711085 140711085 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 5 140711085 140711085 G A SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known silent c.834 p.T278 0.963 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 PCDHGA1 HGNC PCDHGB6 56100 genome.wustl.edu 37 5 140789450 140789450 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 5 140789450 140789450 C T SNP PCDHGB6 ENST00000520790 human ensembl 70_37 +1 known missense c.1681 p.R561W 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC PGM5P2 595135 genome.wustl.edu 37 9 69113626 69113626 + RNA SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 9 69113626 69113626 C T SNP PGM5P2 ENST00000591037 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PGM5P2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 PKD1L1 168507 genome.wustl.edu 37 7 47879139 47879139 + Missense_Mutation SNP A A G TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 7 47879139 47879139 A G SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.5674 p.F1892L 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC PLG 5340 genome.wustl.edu 37 6 161143598 161143598 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 161143598 161143598 G A SNP PLG ENST00000308192 human ensembl 70_37 +1 known missense c.1255 p.A419T 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Pept_S1A_plasmin,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLG HGNC PNLIPRP3 119548 genome.wustl.edu 37 10 118231381 118231381 + Missense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 118231381 118231381 G T SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known missense c.1162 p.A388S 0.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC POLE 5426 genome.wustl.edu 37 12 133219510 133219510 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 133219510 133219510 C A SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.4657 p.G1553C 0.997 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC PREX1 57580 genome.wustl.edu 37 20 47307544 47307544 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 47307544 47307544 G A SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1127 p.T376M 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 10 89717672 89717672 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.697 p.R233* 0.984 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTGES3L-AARSD1 100885850 genome.wustl.edu 37 17 41108566 41108566 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 41108566 41108566 C T SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 70_37 -1 known missense c.923 p.R308K 0.304 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC PTPRT 11122 genome.wustl.edu 37 20 40714415 40714415 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 40714415 40714415 C A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.3991 p.D1331Y 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC RBPJL 11317 genome.wustl.edu 37 20 43944934 43944934 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 43944934 43944934 G A SNP RBPJL ENST00000343694 human ensembl 70_37 +1 known silent c.1128 p.A376 0.601 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC RC3H1 149041 genome.wustl.edu 37 1 173915654 173915654 + Missense_Mutation SNP T T A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 173915654 173915654 T A SNP RC3H1 ENST00000258349 human ensembl 70_37 -1 known missense c.2921 p.N974I 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC RIMS2 9699 genome.wustl.edu 37 8 104513213 104513213 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 104513213 104513213 G A SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known silent c.99 p.T33 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC RNF43 54894 genome.wustl.edu 37 17 56435253 56435253 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 56435253 56435253 G A SNP RNF43 ENST00000407977 human ensembl 70_37 -1 known silent c.1884 p.D628 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC RP1L1 94137 genome.wustl.edu 37 8 10465315 10465315 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 10465315 10465315 G A SNP RP1L1 ENST00000382483 human ensembl 70_37 -1 known missense c.6293 p.S2098L 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC RTEL1 51750 genome.wustl.edu 37 20 62326563 62326563 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 62326563 62326563 C T SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.3488 p.A1163V 0.001 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC RTN2 6253 genome.wustl.edu 37 19 45997641 45997641 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 45997641 45997641 C T SNP RTN2 ENST00000245923 human ensembl 70_37 -1 known silent c.597 p.S199 0.001 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC RYR1 6261 genome.wustl.edu 37 19 38995470 38995470 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 19 38995470 38995470 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.8150 p.A2717V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SDAD1P1 157489 genome.wustl.edu 37 8 26237175 26237175 + RNA SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 8 26237175 26237175 G A SNP SDAD1P1 ENST00000519902 human ensembl 70_37 -1 known rna NULL NULL 0.750 - - - no_errors SDAD1P1 HGNC SEC22B 9554 genome.wustl.edu 37 1 145116679 145116679 + RNA SNP T T C TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 145116679 145116679 T C SNP SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEC22B HGNC SEL1L2 80343 genome.wustl.edu 37 20 13894427 13894427 + Splice_Site SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 20 13894427 13894427 C T SNP SEL1L2 ENST00000284951 human ensembl 70_37 -1 known splice_site c.549+1 e5+1 0.993 - - - no_errors SEL1L2 HGNC SIK2 23235 genome.wustl.edu 37 11 111487074 111487074 + Missense_Mutation SNP A A T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 111487074 111487074 A T SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.243 p.K81N 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,pirsf_Ser/Thr_kinase_SIK1/2,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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC SLC25A21 89874 genome.wustl.edu 37 14 37194846 37194846 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 14 37194846 37194846 C T SNP SLC25A21 ENST00000331299 human ensembl 70_37 -1 known missense c.367 p.E123K 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC SLC35A4 113829 genome.wustl.edu 37 5 139947395 139947395 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 5 139947395 139947395 G A SNP SLC35A4 ENST00000323146 human ensembl 70_37 +1 known missense c.641 p.R214Q 0.990 pfam_Nuc_sug_transpt,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC SLC6A2 6530 genome.wustl.edu 37 16 55690662 55690662 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 16 55690662 55690662 C T SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known missense c.56 p.T19M 0.155 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC SMCR8 140775 genome.wustl.edu 37 17 18219721 18219721 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 18219721 18219721 G A SNP SMCR8 ENST00000406438 human ensembl 70_37 +1 known silent c.618 p.R206 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC SP1 6667 genome.wustl.edu 37 12 53803312 53803312 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 12 53803312 53803312 G A SNP SP1 ENST00000327443 human ensembl 70_37 +1 known missense c.2011 p.D671N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC SRD5A2 6716 genome.wustl.edu 37 2 31805820 31805820 + RNA SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 2 31805820 31805820 C T SNP SRD5A2 ENST00000233139 human ensembl 70_37 -1 known rna NULL NULL 0.185 - - - no_errors SRD5A2 HGNC TP53 7157 genome.wustl.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 7574017 7574017 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.1010 p.R337H 0.896 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TP73 7161 genome.wustl.edu 37 1 3624293 3624293 + Nonsense_Mutation SNP G G T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 3624293 3624293 G T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known nonsense c.367 p.G123* 0.998 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 TP73 HGNC TRPT1 83707 genome.wustl.edu 37 11 63992435 63992435 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 11 63992435 63992435 G A SNP TRPT1 ENST00000394546 human ensembl 70_37 -1 known silent c.165 p.F55 0.996 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34827294 34827294 + Missense_Mutation SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 6 34827294 34827294 G A SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.3161 p.G1054D 1.000 NULL NULL - no_errors UHRF1BP1 HGNC USP43 124739 genome.wustl.edu 37 17 9632171 9632171 + Missense_Mutation SNP C C A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 17 9632171 9632171 C A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.3236 p.A1079D 0.209 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC USP48 84196 genome.wustl.edu 37 1 22055105 22055105 + Missense_Mutation SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 1 22055105 22055105 C T SNP USP48 ENST00000308271 human ensembl 70_37 -1 known missense c.1408 p.E470K 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC VWA9 81556 genome.wustl.edu 37 15 65874292 65874292 + Silent SNP C C T TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 65874292 65874292 C T SNP VWA9 ENST00000567744 human ensembl 70_37 -1 known silent c.1413 p.K471 1.000 NULL NULL - no_errors VWA9 HGNC ZNF770 54989 genome.wustl.edu 37 15 35275294 35275294 + Silent SNP G G A TCGA-EA-A5FO-01A-21D-A28B-09 TCGA-EA-A5FO-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1a852e70-6552-4734-876f-ceb4ed421833 37be35f5-6f57-49fb-be04-8d0cc014f4db 15 35275294 35275294 G A SNP ZNF770 ENST00000356321 human ensembl 70_37 -1 known silent c.342 p.V114 0.885 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC