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 LOC100996735 0 genome.wustl.edu 37 1 148933298 148933298 + RNA SNP T T G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 148933298 148933298 T G SNP LOC100996735 ENST00000294715 human ensembl 74_37 +1 known rna NULL NULL 0.249 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 32 0 0 47 4 7.84314 FLG 0 genome.wustl.edu 37 1 152283872 152283872 + Missense_Mutation SNP T T G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 152283872 152283872 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3490 p.T1164P 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 743 2 0.268456 957 85 8.15739 ASH1L 0 genome.wustl.edu 37 1 155449351 155449351 + Missense_Mutation SNP G G C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 155449351 155449351 G C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3310 p.P1104A 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 133 0 0 96 144 60 ASH1L 0 genome.wustl.edu 37 1 155450163 155450163 + Missense_Mutation SNP G G C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 155450163 155450163 G C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2498 p.S833C 0.997 smart_AT_hook_DNA-bd_motif pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 290 0 0 302 262 46.4539 CROCCP2 0 genome.wustl.edu 37 1 16946471 16946471 + RNA SNP G G C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 16946471 16946471 G C SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CROCCP2 HGNC ENSG00000215908 18 0 0 21 6 22.2222 SIPA1L2 0 genome.wustl.edu 37 1 232564213 232564213 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 232564213 232564213 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4354 p.D1452N 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 138 0 0 116 12 9.375 HEATR1 0 genome.wustl.edu 37 1 236718881 236718881 + Silent SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 236718881 236718881 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.5724 p.S1908 0.129 pfam_BP28_C_dom,superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 136 0 0 89 19 17.5926 TFB2M 0 genome.wustl.edu 37 1 246727680 246727680 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 246727680 246727680 C T SNP TFB2M ENST00000366514 human ensembl 74_37 -1 known missense c.370 p.E124K 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 166 0 0 125 26 17.2185 OR2M3 0 genome.wustl.edu 37 1 248366472 248366472 + Missense_Mutation SNP T T C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 248366472 248366472 T C SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.103 p.F35L 0.031 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 551 0 0 311 163 34.3882 OR2M3 0 genome.wustl.edu 37 1 248366498 248366498 + Silent SNP T T C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 248366498 248366498 T C SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known silent c.129 p.S43 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 584 0 0 318 149 31.9058 OR2M3 0 genome.wustl.edu 37 1 248366499 248366499 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 248366499 248366499 G A SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.130 p.V44I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 583 0 0 319 154 32.5581 OR2M7 0 genome.wustl.edu 37 1 248487715 248487715 + Silent SNP A A G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 248487715 248487715 A G SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known silent c.156 p.D52 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 569 0 0 576 55 8.71632 SRSF11 0 genome.wustl.edu 37 1 70716454 70716454 + Missense_Mutation SNP A A G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 70716454 70716454 A G SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known missense c.1421 p.D474G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 154 0 0 106 47 30.719 KAT6B 0 genome.wustl.edu 37 10 76789623 76789623 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 10 76789623 76789623 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.5041 p.E1681K 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 155 0 0 83 46 35.6589 C11orf87 0 genome.wustl.edu 37 11 109294681 109294681 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 11 109294681 109294681 G A SNP C11orf87 ENST00000327419 human ensembl 74_37 +1 known missense c.322 p.G108S 1.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors C11orf87 HGNC ENSG00000185742 213 0 0 174 31 15.122 UTP20 0 genome.wustl.edu 37 12 101739354 101739354 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 12 101739354 101739354 C T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.4628 p.T1543I 0.757 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 60 0 0 36 17 32.0755 PRPH 0 genome.wustl.edu 37 12 49690240 49690240 + Missense_Mutation SNP G G T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 12 49690240 49690240 G T SNP PRPH ENST00000257860 human ensembl 74_37 +1 known missense c.632 p.R211L 1.000 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 49 0 0 40 10 20 ESPL1 0 genome.wustl.edu 37 12 53673625 53673625 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 12 53673625 53673625 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.2474 p.T825I 0.060 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 244 0 0 182 41 18.3857 ZFC3H1 0 genome.wustl.edu 37 12 72038074 72038074 + Missense_Mutation SNP T T A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 12 72038074 72038074 T A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.1304 p.Q435L 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 41 0 0 38 10 20.8333 POMP 0 genome.wustl.edu 37 13 29238647 29238647 + Missense_Mutation SNP T T G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 13 29238647 29238647 T G SNP POMP ENST00000380842 human ensembl 74_37 +1 known missense c.103 p.F35V 0.999 pfam_UMP1 pfam_UMP1 - no_errors POMP HGNC ENSG00000132963 39 0 0 20 17 45.9459 ESD 0 genome.wustl.edu 37 13 47351721 47351721 + Missense_Mutation SNP C C A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 13 47351721 47351721 C A SNP ESD ENST00000378720 human ensembl 74_37 -1 known missense c.638 p.G213V 0.425 pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol - no_errors ESD HGNC ENSG00000139684 128 0 0 87 63 42 ASPG 0 genome.wustl.edu 37 14 104570728 104570728 + Nonsense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 14 104570728 104570728 C T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known nonsense c.841 p.Q281* 0.017 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 54 0 0 48 7 12.7273 RTF1 0 genome.wustl.edu 37 15 41766890 41766890 + Missense_Mutation SNP C C G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 15 41766890 41766890 C G SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known missense c.1276 p.L426V 0.625 pfam_Plus-3,smart_Plus3-dom_subgr pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 235 0 0 145 88 37.7682 ACSM2A 0 genome.wustl.edu 37 16 20497944 20497944 + Nonsense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 16 20497944 20497944 C T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known nonsense c.1678 p.R560* 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 363 0 0 285 170 37.3626 MYH3 0 genome.wustl.edu 37 17 10546195 10546195 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 17 10546195 10546195 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.1529 p.T510M 0.100 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 301 0 0 212 42 16.5354 UBBP4 0 genome.wustl.edu 37 17 21731501 21731501 + Silent SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 17 21731501 21731501 G A SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative silent c.576 p.Q192 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 81 0 0 50 22 30.5556 NGFR 0 genome.wustl.edu 37 17 47587929 47587929 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 17 47587929 47587929 G A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.724 p.V242M 0.515 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 127 0 0 99 22 18.1818 CPAMD8 0 genome.wustl.edu 37 19 17025586 17025586 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 19 17025586 17025586 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3808 p.R1270C 0.994 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 79 0 0 43 27 38.5714 CAPN12 0 genome.wustl.edu 37 19 39228254 39228254 + Silent SNP G G C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 19 39228254 39228254 G C SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known silent c.990 p.L330 0.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 42 0 0 25 23 47.9167 ZNF283 0 genome.wustl.edu 37 19 44351768 44351768 + Missense_Mutation SNP A A G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 19 44351768 44351768 A G SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known missense c.1015 p.I339V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 101 0 0 114 24 17.3913 MADCAM1 0 genome.wustl.edu 37 19 501786 501786 + Missense_Mutation SNP C C A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 19 501786 501786 C A SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.785 p.P262Q 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 18 0 0 9 5 35.7143 ENSG00000267751 0 genome.wustl.edu 37 19 571480 571480 + RNA SNP T T C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 19 571480 571480 T C SNP ENSG00000267751 ENST00000588290 human ensembl 74_37 -1 known rna NULL NULL 0.082 - - - no_errors AC009005.2 Clone_based_vega_gene ENSG00000267751 55 0 0 25 17 40.4762 ZNF530 0 genome.wustl.edu 37 19 58117777 58117777 + Missense_Mutation SNP A A C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 19 58117777 58117777 A C SNP ZNF530 ENST00000332854 human ensembl 74_37 +1 known missense c.884 p.Y295S 0.774 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 210 1 0.473934 221 30 11.9522 TTN 0 genome.wustl.edu 37 2 179543553 179543553 + Silent SNP A A G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 2 179543553 179543553 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.30015 p.P10005 0.999 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 79 0 0 61 50 45.045 COL3A1 0 genome.wustl.edu 37 2 189859318 189859318 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 2 189859318 189859318 C T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.1345 p.R449C 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 135 0 0 46 45 49.4505 WDR35 0 genome.wustl.edu 37 2 20135333 20135333 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 2 20135333 20135333 G A SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.2479 p.R827W 0.997 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 158 0 0 71 39 35.4545 NRXN1 0 genome.wustl.edu 37 2 50724576 50724576 + Missense_Mutation SNP G G T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 2 50724576 50724576 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2750 p.T917N 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 105 0 0 107 25 18.9394 ZNF133 0 genome.wustl.edu 37 20 18297430 18297430 + Silent SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 20 18297430 18297430 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known silent c.1944 p.G648 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 142 0 0 115 32 21.7687 TTI1 0 genome.wustl.edu 37 20 36624824 36624824 + Missense_Mutation SNP A A C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 20 36624824 36624824 A C SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.3039 p.I1013M 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 88 0 0 73 18 19.7802 TSHZ2 0 genome.wustl.edu 37 20 51872838 51872838 + Silent SNP T T G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 20 51872838 51872838 T G SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.2841 p.S947 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 136 0 0 154 18 10.4651 BACE2 0 genome.wustl.edu 37 21 42647386 42647386 + Silent SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 21 42647386 42647386 C T SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known silent c.1392 p.S464 0.000 prints_Pept_A1_BACE2 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 164 0 0 122 17 12.2302 POM121L9P 0 genome.wustl.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 22 24659734 24659734 T C SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 32 0 0 29 3 9.375 ATP2C1 0 genome.wustl.edu 37 3 130698260 130698260 + Missense_Mutation SNP A A G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 3 130698260 130698260 A G SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1840 p.I614V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 167 0 0 131 27 17.0886 FGFR3 0 genome.wustl.edu 37 4 1808924 1808924 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 4 1808924 1808924 G A SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.2362 p.D788N 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 30 0 0 22 2 8.33333 GRID2 0 genome.wustl.edu 37 4 94436498 94436498 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 4 94436498 94436498 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2129 p.R710Q 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 121 0 0 89 27 23.2759 PCDHGA10 0 genome.wustl.edu 37 5 140792994 140792994 + Silent SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 5 140792994 140792994 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.252 p.R84 0.017 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 305 0 0 207 34 14.1079 SPRY4 0 genome.wustl.edu 37 5 141694444 141694444 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 5 141694444 141694444 G A SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.299 p.T100M 0.066 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 90 0 0 44 39 46.988 FAT2 0 genome.wustl.edu 37 5 150934214 150934214 + Silent SNP C C A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 5 150934214 150934214 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.3654 p.G1218 0.128 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 180 0 0 120 63 34.4262 HMGCS1 0 genome.wustl.edu 37 5 43294196 43294196 + Missense_Mutation SNP G G C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 5 43294196 43294196 G C SNP HMGCS1 ENST00000325110 human ensembl 74_37 -1 known missense c.1145 p.T382S 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC ENSG00000112972 130 1 0.763359 91 46 33.5766 PTPRK 0 genome.wustl.edu 37 6 128298175 128298175 + Missense_Mutation SNP T T A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 6 128298175 128298175 T A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.3787 p.I1263F 1.000 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,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 286 0 0 137 82 37.4429 MAP3K4 0 genome.wustl.edu 37 6 161470483 161470483 + Silent SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 6 161470483 161470483 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.1179 p.L393 1.000 NULL 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 MAP3K4 HGNC ENSG00000085511 182 0 0 142 27 15.9763 NOTCH4 0 genome.wustl.edu 37 6 32172008 32172008 + Silent SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 6 32172008 32172008 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.3024 p.D1008 0.919 pirsf_Notch,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 71 0 0 69 5 6.75676 GJA10 0 genome.wustl.edu 37 6 90605698 90605698 + Missense_Mutation SNP C C G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 6 90605698 90605698 C G SNP GJA10 ENST00000369352 human ensembl 74_37 +1 known missense c.1511 p.P504R 0.005 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 185 0 0 103 43 29.4521 INTS4L1 0 genome.wustl.edu 37 7 64639816 64639816 + RNA SNP A A G TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 7 64639816 64639816 A G SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 89 0 0 76 35 31.5315 VPS13B 0 genome.wustl.edu 37 8 100673652 100673652 + Silent SNP A A T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 8 100673652 100673652 A T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.6054 p.I2018 0.997 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 178 0 0 202 20 9.00901 ZFPM2 0 genome.wustl.edu 37 8 106815406 106815406 + Silent SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 8 106815406 106815406 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.3096 p.L1032 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 56 0 0 44 31 41.3333 CSMD3 0 genome.wustl.edu 37 8 114186043 114186043 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 8 114186043 114186043 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.617 p.T206I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 209 0 0 318 21 6.19469 TEX15 0 genome.wustl.edu 37 8 30695201 30695201 + Missense_Mutation SNP A A T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 8 30695201 30695201 A T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.7450 p.S2484T 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 305 0 0 165 53 24.3119 OSGIN2 0 genome.wustl.edu 37 8 90937575 90937575 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 8 90937575 90937575 G A SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 348 0 0 418 91 17.8782 GSN 0 genome.wustl.edu 37 9 124094717 124094717 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 9 124094717 124094717 C T SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.2185 p.R729W 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 188 0 0 137 39 22.1591 URM1 0 genome.wustl.edu 37 9 131151545 131151545 + Missense_Mutation SNP C C T TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 9 131151545 131151545 C T SNP URM1 ENST00000452446 human ensembl 74_37 +1 known missense c.194 p.P65L 1.000 pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b pfam_Urm1,superfamily_Mopterin_synth/thiamin_S_b - no_errors URM1 HGNC ENSG00000167118 181 0 0 112 16 12.5 LAMC3 0 genome.wustl.edu 37 9 133948214 133948214 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 9 133948214 133948214 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.3409 p.A1137T 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 33 0 0 25 9 26.4706 PRRC2B 0 genome.wustl.edu 37 9 134319661 134319661 + Missense_Mutation SNP G G C TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 9 134319661 134319661 G C SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.559 p.E187Q 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 63 0 0 45 6 11.7647 PRRC2B 0 genome.wustl.edu 37 9 134319676 134319676 + Missense_Mutation SNP G G A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 9 134319676 134319676 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.574 p.D192N 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 41 0 0 33 6 15.3846 ALG13 0 genome.wustl.edu 37 X 110988126 110988126 + Missense_Mutation SNP C C A TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 X 110988126 110988126 C A SNP ALG13 ENST00000394780 human ensembl 74_37 +1 putative missense c.2926 p.P976T 0.999 NULL pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 30 0 0 28 3 9.67742 NUDT17 0 genome.wustl.edu 37 1 145588424 145588424 + Frame_Shift_Del DEL T T - TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 1 145588424 145588424 T - DEL NUDT17 ENST00000334513 human ensembl 74_37 -1 known frame_shift_del c.449 p.H150fs 0.999 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT17 HGNC ENSG00000186364 201 0 0 161 15 8.52273 MUC6 0 genome.wustl.edu 37 11 1016412 1016414 + In_Frame_Del DEL GAG GAG - TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 11 1016412 1016414 GAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6389_6387 p.S2130in_frame_del 0.002:0.002:0.018 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 69 0 0 38 6 13.6364 MUC6 0 genome.wustl.edu 37 11 1017246 1017251 + In_Frame_Del DEL GTACTT GTACTT - TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 GTACTT GTACTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 11 1017246 1017251 GTACTT - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.5555_5550 p.ST1851in_frame_del 0.005:0.001:0.000:0.000:0.006:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 1104 0 0 619 44 6.6365 ORAI1 0 genome.wustl.edu 37 12 122078977 122078982 + In_Frame_Del DEL GACCAC GACCAC - TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 GACCAC GACCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 12 122078977 122078982 GACCAC - DEL ORAI1 ENST00000330079 human ensembl 74_37 +1 known in_frame_del c.340_345 p.HD115in_frame_del 0.278:0.260:0.004:0.976:0.999:0.990 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI1 HGNC ENSG00000182500 43 0 0 37 6 13.9535 SHARPIN 0 genome.wustl.edu 37 8 145154720 145154720 + Frame_Shift_Del DEL G G - TCGA-CG-4475-01A-01D-1158-08 TCGA-CG-4475-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e11c7c6f-b094-4085-9982-f59dc50a8d5b 5977bd46-27a4-4c94-9ad2-7c6cc053d322 8 145154720 145154720 G - DEL SHARPIN ENST00000398712 human ensembl 74_37 -1 known frame_shift_del c.545 p.A182fs 0.965 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 170 0 0 175 33 15.8654