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 ACTBL2 0 genome.wustl.edu 37 5 56777878 56777878 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 5 56777878 56777878 G A SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.657 p.Y219 0.961 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 rs142342493 - 157 0 0.00 140 8 5.41 ADSSL1 0 genome.wustl.edu 37 14 105206963 105206963 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 14 105206963 105206963 G A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.631 p.G211R 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 tier1 - - 206 0 0.00 226 13 5.44 BCOR 0 genome.wustl.edu 37 X 39932987 39932987 + Nonsense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 39932987 39932987 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.1612 p.Q538* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 - - 63 0 0.00 58 9 13.43 C1QTNF9 0 genome.wustl.edu 37 13 24895861 24895861 + Silent SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 13 24895861 24895861 C T SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known silent c.957 p.D319 0.885 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 tier1 - - 237 0 0.00 222 13 5.51 CD209 0 genome.wustl.edu 37 19 7810611 7810611 + Missense_Mutation SNP C C G TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 19 7810611 7810611 C G SNP CD209 ENST00000315599 human ensembl 74_37 -1 known missense c.541 p.G181R 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 tier1 - - 283 0 0.00 297 18 5.70 CD34 0 genome.wustl.edu 37 1 208063101 208063101 + Frame_Shift_Del DEL A A - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 208063101 208063101 A - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82 p.S28fs 0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 25 0 0.00 36 4 10.00 CES1 0 genome.wustl.edu 37 16 55862883 55862883 + Missense_Mutation SNP C C A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 16 55862883 55862883 C A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.56 p.G19V 0.976 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 rs3826190 - 23 0 0.00 23 7 23.33 CRYGA 0 genome.wustl.edu 37 2 209025555 209025555 + Silent SNP A A T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 2 209025555 209025555 A T SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.498 p.S166 0.935 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 tier1 - - 227 0 0.00 206 15 6.79 ENSG00000225411 0 genome.wustl.edu 37 9 68400291 68400291 + RNA SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 9 68400291 68400291 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 31 0 0.00 18 5 20.00 ENSG00000225411 0 genome.wustl.edu 37 9 68401278 68401278 + RNA SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 9 68401278 68401278 G A SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs141652755 - 12 0 0.00 7 5 41.67 ENSG00000236432 0 genome.wustl.edu 37 2 228102892 228102893 + Splice_Site INS - - A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 2 228102892 228102893 - A INS ENSG00000236432 ENST00000437673 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.001:0.001 - - - no_errors AC097662.2 Clone_based_vega_gene ENSG00000236432 tier1 8 0 0.00 17 5 22.73 ENSG00000244327 0 genome.wustl.edu 37 3 142184163 142184164 + RNA INS - - A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 142184163 142184164 - A INS ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 21 0 0.00 29 2 6.45 ENSG00000257434 0 genome.wustl.edu 37 12 75435987 75435987 + RNA DEL T T - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 12 75435987 75435987 T - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 15 0 0.00 12 3 20.00 EXPH5 0 genome.wustl.edu 37 11 108385484 108385484 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 11 108385484 108385484 G A SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.750 p.N250 0.007 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 tier1 - - 167 0 0.00 153 17 10.00 F2RL3 0 genome.wustl.edu 37 19 17001175 17001177 + In_Frame_Del DEL CTG CTG - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 19 17001175 17001177 CTG - DEL F2RL3 ENST00000248076 human ensembl 74_37 +1 known in_frame_del c.901_903 p.L304in_frame_del 0.001:0.012:0.015 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_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL3 HGNC ENSG00000127533 tier1 37 0 0.00 28 3 9.68 FAM43B 0 genome.wustl.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 20880268 20880270 GAG - DEL FAM43B ENST00000332947 human ensembl 74_37 +1 known in_frame_del c.802_804 p.E271in_frame_del 1.000:1.000:1.000 NULL smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 tier1 9 0 0.00 7 4 36.36 FFAR2 0 genome.wustl.edu 37 19 35941517 35941517 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 19 35941517 35941517 C T SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known missense c.901 p.R301C 0.025 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 tier1 - - 140 0 0.00 162 10 5.81 HLA-C 0 genome.wustl.edu 37 6 31238153 31238153 + Silent SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 6 31238153 31238153 C T SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known silent c.729 p.R243 0.984 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 tier1 - - 138 0 0.00 138 9 6.12 HRH4 0 genome.wustl.edu 37 18 22057102 22057102 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 18 22057102 22057102 C T SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.749 p.S250L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 tier1 - - 191 0 0.00 152 11 6.75 INCENP 0 genome.wustl.edu 37 11 61895761 61895761 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 11 61895761 61895761 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.128 p.R43H 0.989 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 - - 57 0 0.00 59 5 7.81 IRF7 0 genome.wustl.edu 37 11 613841 613841 + Frame_Shift_Del DEL G G - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 11 613841 613841 G - DEL IRF7 ENST00000330243 human ensembl 74_37 -1 known frame_shift_del c.830 p.P277fs 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 tier1 25 0 0.00 21 2 8.70 KCNB2 0 genome.wustl.edu 37 8 73849388 73849388 + Missense_Mutation SNP A A T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 8 73849388 73849388 A T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1798 p.T600S 1.000 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 154 0 0.00 137 8 5.48 KCNJ15 0 genome.wustl.edu 37 21 39671294 39671294 + Silent SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 21 39671294 39671294 C T SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known silent c.111 p.N37 0.914 pfam_K_chnl_inward-rec_Kir,pirsf_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_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 tier1 - - 114 0 0.00 128 8 5.88 LINC00273 0 genome.wustl.edu 37 16 33961363 33961363 + RNA SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 16 33961363 33961363 C T SNP LINC00273 ENST00000539813 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00273 HGNC ENSG00000256642 tier1 - - 8 0 0.00 0 4 100.00 LOC101927806 0 genome.wustl.edu 37 1 17199803 17199803 + RNA SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 17199803 17199803 C T SNP LOC101927806 ENST00000453554 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors U1 RFAM ENSG00000228549 tier1 rs7417079 - 12 0 0.00 9 4 30.77 MALAT1 0 genome.wustl.edu 37 11 65273569 65273570 + RNA DEL AA AA - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 11 65273569 65273570 AA - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 66 0 0.00 60 10 14.29 MASP1 0 genome.wustl.edu 37 3 186943167 186943167 + Silent SNP T T C TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 186943167 186943167 T C SNP MASP1 ENST00000337774 human ensembl 74_37 -1 known silent c.1686 p.P562 0.001 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 192 0 0.00 204 18 8.07 MTERFD3 0 genome.wustl.edu 37 12 107372096 107372096 + Missense_Mutation SNP T T G TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 12 107372096 107372096 T G SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known missense c.397 p.I133L 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 tier1 - - 187 0 0.00 156 13 7.69 MUC4 0 genome.wustl.edu 37 3 195512079 195512079 + Silent SNP C C A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 195512079 195512079 C A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.6372 p.G2124 0.377 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs200031229 - 17 0 0.00 10 5 33.33 MUC4 0 genome.wustl.edu 37 3 195512767 195512767 + Missense_Mutation SNP T T G TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 195512767 195512767 T G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.5684 p.N1895T 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs2641778 - 15 0 0.00 6 8 57.14 MUC4 0 genome.wustl.edu 37 3 195512768 195512768 + Missense_Mutation SNP T T A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 195512768 195512768 T A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.5683 p.N1895Y 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs2688553 - 15 0 0.00 6 8 57.14 MUC4 0 genome.wustl.edu 37 3 195510943 195510943 + Missense_Mutation SNP G G T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 195510943 195510943 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7508 p.S2503Y 0.335 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 10 0 0.00 3 7 70.00 MUC4 0 genome.wustl.edu 37 3 195511911 195511911 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 195511911 195511911 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.6540 p.T2180 0.931 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 19 0 0.00 18 4 18.18 NFATC2 0 genome.wustl.edu 37 20 50140209 50140209 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 20 50140209 50140209 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.571 p.V191I 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 122 0 0.00 123 9 6.82 NLRP1 0 genome.wustl.edu 37 17 5462596 5462596 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 17 5462596 5462596 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.1420 p.R474C 0.000 pfscan_NACHT_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 rs202231072 - 74 0 0.00 64 5 7.25 PAEP 0 genome.wustl.edu 37 9 138454248 138454248 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 9 138454248 138454248 G A SNP PAEP ENST00000277508 human ensembl 74_37 +1 known missense c.205 p.E69K 0.048 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin,prints_Lipocalin - no_errors PAEP HGNC ENSG00000122133 tier1 - - 138 0 0.00 120 7 5.51 PAGE3 0 genome.wustl.edu 37 X 55290278 55290278 + Missense_Mutation SNP G G C TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 55290278 55290278 G C SNP PAGE3 ENST00000374951 human ensembl 74_37 -1 known missense c.59 p.S20C 0.003 pfam_GAGE pfam_GAGE - no_errors PAGE3 HGNC ENSG00000204279 tier1 - - 79 0 0.00 51 5 8.93 PLS3 0 genome.wustl.edu 37 X 114844579 114844579 + Frame_Shift_Del DEL C C - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 114844579 114844579 C - DEL PLS3 ENST00000355899 human ensembl 74_37 +1 known frame_shift_del c.17 p.T7fs 0.985 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS3 HGNC ENSG00000102024 tier1 55 0 0.00 42 4 8.70 POMGNT1 0 genome.wustl.edu 37 1 46657847 46657847 + Nonsense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 46657847 46657847 G A SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known nonsense c.1462 p.R488* 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 tier1 - - 127 0 0.00 96 15 13.51 SAMD7 0 genome.wustl.edu 37 3 169637347 169637347 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 169637347 169637347 C T SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known missense c.61 p.P21S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 tier1 - - 122 0 0.00 120 7 5.51 SEMA6D 0 genome.wustl.edu 37 15 48059279 48059279 + Missense_Mutation SNP G G T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 15 48059279 48059279 G T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1754 p.G585V 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 80 0 0.00 110 6 5.17 SVIL 0 genome.wustl.edu 37 10 29773703 29773703 + Missense_Mutation SNP A A T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 10 29773703 29773703 A T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.4837 p.L1613I 0.560 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 - - 94 0 0.00 64 5 7.14 TAOK2 0 genome.wustl.edu 37 16 30002108 30002108 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 16 30002108 30002108 C T SNP TAOK2 ENST00000279394 human ensembl 74_37 +1 known missense c.2449 p.R817W 1.000 superfamily_Homeodomain-like pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 tier1 - - 147 0 0.00 157 9 5.42 TBC1D25 0 genome.wustl.edu 37 X 48419180 48419180 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 48419180 48419180 G A SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known silent c.1884 p.E628 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 tier1 - - 89 0 0.00 75 8 9.64 TMEM100 0 genome.wustl.edu 37 17 53798077 53798077 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 17 53798077 53798077 G A SNP TMEM100 ENST00000424486 human ensembl 74_37 -1 known missense c.355 p.R119W 1.000 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 tier1 - - 202 0 0.00 167 10 5.65 TNS1 0 genome.wustl.edu 37 2 218669196 218669196 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 2 218669196 218669196 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.5194 p.G1732S 0.989 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 rs143428830 - 167 0 0.00 163 11 6.32 TPGS2 0 genome.wustl.edu 37 18 34380233 34380233 + Missense_Mutation SNP T T A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 18 34380233 34380233 T A SNP TPGS2 ENST00000334295 human ensembl 74_37 -1 known missense c.424 p.S142C 1.000 smart_SMI1/KNR4_like_dom smart_SMI1/KNR4_like_dom - no_errors TPGS2 HGNC ENSG00000134779 tier1 - - 293 0 0.00 290 16 5.23 TRIM9 0 genome.wustl.edu 37 14 51477195 51477195 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 14 51477195 51477195 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.1059 p.I353 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 121 0 0.00 113 8 6.61 ZC3H12D 0 genome.wustl.edu 37 6 149772563 149772563 + Silent SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 6 149772563 149772563 C T SNP ZC3H12D ENST00000389942 human ensembl 74_37 -1 known silent c.840 p.P280 0.187 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12D HGNC ENSG00000178199 tier1 - - 25 0 0.00 22 4 15.38 RHCE 0 genome.wustl.edu 37 1 25688935 25688935 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 25688935 25688935 G A SNP RHCE ENST00000413854 human ensembl 74_37 -1 known missense c.1183 p.R395C 0.000 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 48 0 0 38 3 7.31707 SESN2 0 genome.wustl.edu 37 1 28595728 28595728 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 28595728 28595728 G A SNP SESN2 ENST00000253063 human ensembl 74_37 +1 known missense c.125 p.R42Q 0.707 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 107 0 0 141 8 5.36913 POMGNT1 0 genome.wustl.edu 37 1 46657847 46657847 + Nonsense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 46657847 46657847 G A SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known nonsense c.1462 p.R488* 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 110 0 0 90 13 12.6214 NRAP 0 genome.wustl.edu 37 10 115370264 115370264 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 10 115370264 115370264 G A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.3581 p.T1194M 0.568 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 107 0 0 91 7 7.14286 KCNK18 0 genome.wustl.edu 37 10 118960783 118960783 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 10 118960783 118960783 G A SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.337 p.V113M 0.961 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 150 1 0.662252 151 19 11.1765 SVIL 0 genome.wustl.edu 37 10 29773703 29773703 + Missense_Mutation SNP A A T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 10 29773703 29773703 A T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.4837 p.L1613I 0.560 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 83 0 0 58 4 6.45161 EXPH5 0 genome.wustl.edu 37 11 108385484 108385484 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 11 108385484 108385484 G A SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.750 p.N250 0.007 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 153 0 0 138 16 10.3896 MTERFD3 0 genome.wustl.edu 37 12 107372096 107372096 + Missense_Mutation SNP T T G TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 12 107372096 107372096 T G SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known missense c.397 p.I133L 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 172 0 0 149 10 6.28931 C1QTNF9 0 genome.wustl.edu 37 13 24895861 24895861 + Silent SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 13 24895861 24895861 C T SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known silent c.957 p.D319 0.885 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 215 0 0 192 11 5.41872 TPTE2P6 0 genome.wustl.edu 37 13 25168432 25168432 + RNA SNP T T C TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 13 25168432 25168432 T C SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPTE2P6 HGNC ENSG00000205822 37 0 0 25 3 10.7143 ADSSL1 0 genome.wustl.edu 37 14 105206963 105206963 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 14 105206963 105206963 G A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.631 p.G211R 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 182 0 0 191 11 5.44554 DHRS4 0 genome.wustl.edu 37 14 24424420 24424420 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 14 24424420 24424420 C T SNP DHRS4 ENST00000313250 human ensembl 74_37 +1 known missense c.305 p.T102M 0.996 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS4 HGNC ENSG00000157326 46 0 0 36 4 10 TRIM9 0 genome.wustl.edu 37 14 51477195 51477195 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 14 51477195 51477195 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.1059 p.I353 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 105 0 0 101 7 6.48148 WHAMMP3 0 genome.wustl.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 15 23205108 23205108 C T SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 18 0 0 27 4 12.9032 TAOK2 0 genome.wustl.edu 37 16 30002108 30002108 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 16 30002108 30002108 C T SNP TAOK2 ENST00000279394 human ensembl 74_37 +1 known missense c.2449 p.R817W 1.000 superfamily_Homeodomain-like pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 133 0 0 139 8 5.44218 TMEM100 0 genome.wustl.edu 37 17 53798077 53798077 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 17 53798077 53798077 G A SNP TMEM100 ENST00000424486 human ensembl 74_37 -1 known missense c.355 p.R119W 1.000 NULL NULL - no_errors TMEM100 HGNC ENSG00000166292 177 0 0 147 8 5.16129 NLRP1 0 genome.wustl.edu 37 17 5462596 5462596 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 17 5462596 5462596 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.1420 p.R474C 0.000 pfscan_NACHT_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 67 0 0 60 5 7.69231 HRH4 0 genome.wustl.edu 37 18 22057102 22057102 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 18 22057102 22057102 C T SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.749 p.S250L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 181 0 0 139 10 6.71141 CHST9 0 genome.wustl.edu 37 18 24722744 24722744 + Silent SNP G G T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 18 24722744 24722744 G T SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known silent c.30 p.P10 1.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 150 0 0 151 8 5.03145 TPGS2 0 genome.wustl.edu 37 18 34380233 34380233 + Missense_Mutation SNP T T A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 18 34380233 34380233 T A SNP TPGS2 ENST00000334295 human ensembl 74_37 -1 known missense c.424 p.S142C 1.000 smart_SMI1/KNR4_like_dom smart_SMI1/KNR4_like_dom - no_errors TPGS2 HGNC ENSG00000134779 245 0 0 245 14 5.40541 FFAR2 0 genome.wustl.edu 37 19 35941517 35941517 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 19 35941517 35941517 C T SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known missense c.901 p.R301C 0.025 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 132 0 0 143 8 5.29801 CD209 0 genome.wustl.edu 37 19 7810611 7810611 + Missense_Mutation SNP C C G TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 19 7810611 7810611 C G SNP CD209 ENST00000315599 human ensembl 74_37 -1 known missense c.541 p.G181R 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 267 0 0 271 18 6.22837 CRYGA 0 genome.wustl.edu 37 2 209025555 209025555 + Silent SNP A A T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 2 209025555 209025555 A T SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.498 p.S166 0.935 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 207 0 0 184 14 7.07071 TNS1 0 genome.wustl.edu 37 2 218669196 218669196 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 2 218669196 218669196 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.5194 p.G1732S 0.989 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 152 0 0 144 9 5.88235 KIF16B 0 genome.wustl.edu 37 20 16360357 16360357 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 20 16360357 16360357 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2290 p.H764Y 0.014 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 191 1 0.520833 159 9 5.35714 NFATC2 0 genome.wustl.edu 37 20 50140209 50140209 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 20 50140209 50140209 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.571 p.V191I 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 116 0 0 116 8 6.45161 SAMD7 0 genome.wustl.edu 37 3 169637347 169637347 + Missense_Mutation SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 169637347 169637347 C T SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known missense c.61 p.P21S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 108 0 0 100 7 6.54206 MASP1 0 genome.wustl.edu 37 3 186943167 186943167 + Silent SNP T T C TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 186943167 186943167 T C SNP MASP1 ENST00000337774 human ensembl 74_37 -1 known silent c.1686 p.P562 0.001 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 173 0 0 189 18 8.69565 MUC4 0 genome.wustl.edu 37 3 195511638 195511638 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 3 195511638 195511638 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.6813 p.T2271 0.110 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 11 0 0 5 3 37.5 ACTBL2 0 genome.wustl.edu 37 5 56777878 56777878 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 5 56777878 56777878 G A SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.657 p.Y219 0.961 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 137 0 0 121 8 6.20155 SCAND3 0 genome.wustl.edu 37 6 28543000 28543000 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 6 28543000 28543000 G A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known silent c.1482 p.H494 0.990 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 160 0 0 165 9 5.17241 HLA-C 0 genome.wustl.edu 37 6 31238153 31238153 + Silent SNP C C T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 6 31238153 31238153 C T SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known silent c.729 p.R243 0.984 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 131 0 0 128 8 5.88235 KCNB2 0 genome.wustl.edu 37 8 73849388 73849388 + Missense_Mutation SNP A A T TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 8 73849388 73849388 A T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1798 p.T600S 1.000 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 146 0 0 124 8 6.06061 PAEP 0 genome.wustl.edu 37 9 138454248 138454248 + Missense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 9 138454248 138454248 G A SNP PAEP ENST00000277508 human ensembl 74_37 +1 known missense c.205 p.E69K 0.048 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin,prints_Lipocalin - no_errors PAEP HGNC ENSG00000122133 127 0 0 106 6 5.35714 BCOR 0 genome.wustl.edu 37 X 39932987 39932987 + Nonsense_Mutation SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 39932987 39932987 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.1612 p.Q538* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 59 0 0 52 8 13.3333 TBC1D25 0 genome.wustl.edu 37 X 48419180 48419180 + Silent SNP G G A TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 48419180 48419180 G A SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known silent c.1884 p.E628 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 82 0 0 70 7 9.09091 PAGE3 0 genome.wustl.edu 37 X 55290278 55290278 + Missense_Mutation SNP G G C TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 X 55290278 55290278 G C SNP PAGE3 ENST00000374951 human ensembl 74_37 -1 known missense c.59 p.S20C 0.003 pfam_GAGE pfam_GAGE - no_errors PAGE3 HGNC ENSG00000204279 65 0 0 49 5 9.25926 FAM43B 0 genome.wustl.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 1 20880268 20880270 GAG - DEL FAM43B ENST00000332947 human ensembl 74_37 +1 known in_frame_del c.802_804 p.E271in_frame_del 1.000:1.000:1.000 NULL smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 9 0 0 9 2 18.1818 LIPF 0 genome.wustl.edu 37 10 90428423 90428425 + In_Frame_Del DEL ATG ATG - TCGA-D7-A6ET-01A-32D-A32N-08 TCGA-D7-A6ET-10A-01D-A32N-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e54be536-5456-4fb5-8180-9b9307cf70b1 9ca2150a-60e7-487e-8d5c-050042020259 10 90428423 90428425 ATG - DEL LIPF ENST00000394375 human ensembl 74_37 +1 known in_frame_del c.362_364 p.D122in_frame_del 1.000:1.000:1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 77 0 0 90 5 5.26316