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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ALAS2 0 genome.wustl.edu 37 X 55039950 55039950 + Missense_Mutation SNP G G T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c X 55039950 55039950 G T SNP ALAS2 ENST00000330807 human ensembl 69_37n -1 known missense c.1569 p.H523Q 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 38 0 0.00 61 16 20.78 - - - CD1C 0 genome.wustl.edu 37 1 158261173 158261173 + Missense_Mutation SNP G G T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 1 158261173 158261173 G T SNP CD1C ENST00000368170 human ensembl 69_37n +1 known missense c.311 p.S104I 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1C HGNC ENSG00000158481 335 0 0.00 337 83 19.76 - - - CHST2 0 genome.wustl.edu 37 3 142841031 142841031 + Frame_Shift_Del DEL T T - TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 3 142841031 142841031 T - DEL CHST2 ENST00000309575 human ensembl 69_37n +1 known frame_shift_del c.1373 p.M458fs 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 25 0 0.00 16 42 71.19 - - - CPA1 0 genome.wustl.edu 37 7 130027699 130027699 + Silent SNP C C T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 7 130027699 130027699 C T SNP CPA1 ENST00000011292 human ensembl 69_37n +1 known silent c.1107 p.Y369 0.061 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 418 0 0.00 216 183 45.75 - - - DNHD1 0 genome.wustl.edu 37 11 6592127 6592127 + Missense_Mutation SNP G G A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 11 6592127 6592127 G A SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known missense c.13385 p.R4462H 0.000 pfam_Dynein_heavy pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 44 0 0.00 24 13 35.14 - - - EHBP1L1 0 genome.wustl.edu 37 11 65349718 65349718 + Frame_Shift_Del DEL G G - TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 11 65349718 65349718 G - DEL EHBP1L1 ENST00000309295 human ensembl 69_37n +1 known frame_shift_del c.1575 p.G526fs 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 9 0 0.00 4 2 33.33 - - - FAM90A1 0 genome.wustl.edu 37 12 8376712 8376712 + Nonsense_Mutation SNP C C A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 12 8376712 8376712 C A SNP FAM90A1 ENST00000307435 human ensembl 69_37n -1 known nonsense c.223 p.E75* 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 56 0 0.00 39 9 18.75 - - - FGD3 0 genome.wustl.edu 37 9 95738899 95738900 + Frame_Shift_Ins INS - - C TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 9 95738899 95738900 - C INS FGD3 ENST00000337352 human ensembl 69_37n +1 known frame_shift_ins c.361_362 p.Q123fs 0.000:0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 9 0 0.00 11 2 15.38 - - - FNDC4 0 genome.wustl.edu 37 2 27717516 27717517 + Frame_Shift_Ins INS - - G TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 2 27717516 27717517 - G INS FNDC4 ENST00000264703 human ensembl 69_37n -1 known frame_shift_ins c.31_30 p.S10fs 0.989:0.915 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC4 HGNC ENSG00000115226 8 0 0.00 4 2 33.33 - - - GUCY2F 0 genome.wustl.edu 37 X 108718511 108718511 + Missense_Mutation SNP C C T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c X 108718511 108718511 C T SNP GUCY2F ENST00000218006 human ensembl 69_37n -1 known missense c.655 p.V219I 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 164 0 0.00 90 72 44.44 - - - GYG2 0 genome.wustl.edu 37 X 2779579 2779580 + Frame_Shift_Ins INS - - G TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c X 2779579 2779580 - G INS GYG2 ENST00000381163 human ensembl 69_37n +1 known frame_shift_ins c.947_948 p.P319fs 0.000:0.000 NULL pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 23 0 0.00 17 3 15.00 - - - IQCB1 0 genome.wustl.edu 37 3 121508941 121508941 + Missense_Mutation SNP T T C TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 3 121508941 121508941 T C SNP IQCB1 ENST00000310864 human ensembl 69_37n -1 known missense c.1108 p.M370V 0.936 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 215 0 0.00 331 54 13.99 - - - IQCH 0 genome.wustl.edu 37 15 67782366 67782366 + Missense_Mutation SNP T T C TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 15 67782366 67782366 T C SNP IQCH ENST00000335894 human ensembl 69_37n +1 known missense c.2825 p.L942S 0.019 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 207 0 0.00 60 242 79.87 - - - KIAA0586 0 genome.wustl.edu 37 14 58941356 58941356 + Missense_Mutation SNP C C G TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 14 58941356 58941356 C G SNP KIAA0586 ENST00000556134 human ensembl 69_37n +1 known missense c.2621 p.S874C 0.998 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 120 0 0.00 68 23 25.27 - - - KIF3C 0 genome.wustl.edu 37 2 26204266 26204266 + Missense_Mutation SNP C C T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 2 26204266 26204266 C T SNP KIF3C ENST00000264712 human ensembl 69_37n -1 known missense c.521 p.G174D 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 145 0 0.00 81 29 26.36 - - - KTN1 0 genome.wustl.edu 37 14 56114770 56114770 + Silent SNP G G A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 14 56114770 56114770 G A SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known silent c.2235 p.K745 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 75 0 0.00 56 17 23.29 - - - MACF1 0 genome.wustl.edu 37 1 39889705 39889705 + Missense_Mutation SNP C C G TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 1 39889705 39889705 C G SNP MACF1 ENST00000372925 human ensembl 69_37n +1 novel missense c.7306 p.P2436A 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MACF1 HGNC ENSG00000127603 234 0 0.00 238 45 15.90 - - - MED23 0 genome.wustl.edu 37 6 131926396 131926396 + Missense_Mutation SNP C C A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 6 131926396 131926396 C A SNP MED23 ENST00000368058 human ensembl 69_37n -1 known missense c.1615 p.V539F 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 58 0 0.00 35 48 57.83 - - - MST1P9 0 genome.wustl.edu 37 1 17085006 17085006 + Missense_Mutation SNP C C T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 1 17085006 17085006 C T SNP MST1P9 ENST00000334998 human ensembl 69_37n -1 known missense c.1469 p.G490E 0.998 superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors MST1P9 HGNC ENSG00000186715 57 0 0.00 43 6 12.24 - - - MUC17 0 genome.wustl.edu 37 7 100676653 100676653 + Silent SNP T T A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 7 100676653 100676653 T A SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.1956 p.T652 0.002 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 656 1 0.15 251 177 41.07 - - - N4BP2L2 0 genome.wustl.edu 37 13 33017767 33017767 + Missense_Mutation SNP G G A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 13 33017767 33017767 G A SNP N4BP2L2 ENST00000399396 human ensembl 69_37n -1 known missense c.907 p.H303Y 0.000 NULL NULL - no_errors N4BP2L2 HGNC ENSG00000244754 60 0 0.00 31 13 29.55 - - - NBEAL1 0 genome.wustl.edu 37 2 204001452 204001452 + Missense_Mutation SNP G G T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 2 204001452 204001452 G T SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known missense c.4433 p.G1478V 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 76 0 0.00 89 15 14.42 - - - PABPC5 0 genome.wustl.edu 37 X 90690698 90690698 + Missense_Mutation SNP C C A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c X 90690698 90690698 C A SNP PABPC5 ENST00000312600 human ensembl 69_37n +1 known missense c.122 p.A41D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 37 0 0.00 47 11 18.97 - - - PCDHA5 0 genome.wustl.edu 37 5 140202883 140202883 + Missense_Mutation SNP C C T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 5 140202883 140202883 C T SNP PCDHA5 ENST00000529859 human ensembl 69_37n +1 known missense c.1523 p.S508L 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 25 0 0.00 16 4 20.00 - - - SLC24A4 0 genome.wustl.edu 37 14 92958577 92958577 + Missense_Mutation SNP C C T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 14 92958577 92958577 C T SNP SLC24A4 ENST00000532405 human ensembl 69_37n +1 known missense c.1709 p.A570V 0.834 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A4 HGNC ENSG00000140090 88 0 0.00 29 24 45.28 - - - SLC4A10 0 genome.wustl.edu 37 2 162711543 162711543 + Silent SNP T T G TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 2 162711543 162711543 T G SNP SLC4A10 ENST00000446997 human ensembl 69_37n +1 known silent c.480 p.A160 0.955 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 114 0 0.00 133 30 18.40 - - - SPTBN4 0 genome.wustl.edu 37 19 41038673 41038673 + Missense_Mutation SNP G G A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 19 41038673 41038673 G A SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known missense c.4090 p.E1364K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 46 0 0.00 42 7 14.29 - - - TEP1 0 genome.wustl.edu 37 14 20876336 20876336 + Missense_Mutation SNP A A T TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 14 20876336 20876336 A T SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.263 p.L88Q 0.810 pfam_TEP1_N pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 371 0 0.00 105 160 60.38 - - - TMEM40 0 genome.wustl.edu 37 3 12785428 12785429 + Frame_Shift_Ins INS - - C TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 3 12785428 12785429 - C INS TMEM40 ENST00000431022 human ensembl 69_37n -1 known frame_shift_ins c.320_319 p.A107fs 0.001:0.002 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 22 0 0.00 13 2 13.33 - - - XIRP1 0 genome.wustl.edu 37 3 39226658 39226659 + Frame_Shift_Ins INS - - G TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c 3 39226658 39226659 - G INS XIRP1 ENST00000340369 human ensembl 69_37n -1 known frame_shift_ins c.4279_4278 p.K1426fs 0.245:0.254 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 41 0 0.00 22 3 12.00 - - - ZCCHC5 0 genome.wustl.edu 37 X 77912638 77912638 + Missense_Mutation SNP T T A TCGA-A2-A0D4-01A-11W-A019-09 TCGA-A2-A0D4-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f3accede-1716-4d44-bad4-5427a9ebd675 9223d8eb-db2b-469a-94fc-857f5b62996c X 77912638 77912638 T A SNP ZCCHC5 ENST00000321110 human ensembl 69_37n -1 known missense c.1280 p.N427I 0.000 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 105 0 0.00 108 14 11.48 - - -