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 NOTCH2 4853 genome.wustl.edu 36 1 120292618 120292618 + Silent SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 1 120292618 120292618 T C SNP NOTCH2 NM_024408 human genbank 54_36p -1 reviewed silent c.2694 p.E898 0.71 HMMPfam_EGF_CA NODP;HMMPfam_NODP;EGF_CA;HMMPfam_EGF_CA;Notch;HMMPfam_Notch;Ank;HMMPfam_Ank;EGF;HMMPfam_EGF;NOD;HMMPfam_NOD - no_errors KPRP 448834 genome.wustl.edu 36 1 150998716 150998716 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 1 150998716 150998716 C T SNP KPRP NM_001025231 human genbank 54_36p 1 provisional missense c.28 p.R10C 0.01 NULL - - no_errors TP53BP2 7159 genome.wustl.edu 36 1 222046844 222046844 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 1 222046844 222046844 C G SNP TP53BP2 NM_001031685 human genbank 54_36p -1 reviewed missense c.2866 p.D956H 0.99 NULL - - no_errors LRRC7 57554 genome.wustl.edu 36 1 70277270 70277270 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 1 70277270 70277270 G T SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.3061 p.A1021S 1 NULL HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_LRR_1;superfamily_RNI-like;superfamily_L domain-like - no_errors TET1 80312 genome.wustl.edu 36 10 70116184 70116184 + Missense_Mutation SNP T T A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 10 70116184 70116184 T A SNP TET1 NM_030625 human genbank 54_36p 1 validated missense c.5118 p.H1706Q 0.99 NULL HMMPfam_zf-CXXC - no_errors APLP2 334 genome.wustl.edu 36 11 129484610 129484610 + Missense_Mutation SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 11 129484610 129484610 T C SNP APLP2 NM_001642 human genbank 54_36p 1 validated missense c.182 p.M61T 1 HMMPfam_A4_EXTRA HMMPfam_Kunitz_BPTI;superfamily_BPTI-like;HMMPfam_A4_EXTRA;superfamily_Amyloid beta a4 protein copper binding domain (domain 2);superfamily_A heparin-binding domain;superfamily_CAPPD an extracellular domain of amyloid beta A4 protein - no_errors CCDC73 493860 genome.wustl.edu 36 11 32592805 32592805 + Silent SNP T T G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 11 32592805 32592805 T G SNP CCDC73 NM_001008391 human genbank 54_36p -1 validated silent c.1635 p.I545 0.58 NULL - - no_errors PLA2G16 11145 genome.wustl.edu 36 11 63114251 63114251 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 11 63114251 63114251 C T SNP PLA2G16 NM_007069 human genbank 54_36p -1 validated missense c.284 p.R95Q 0.98 NULL - - no_errors RNF10 9921 genome.wustl.edu 36 12 119479604 119479604 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 12 119479604 119479604 G A SNP RNF10 NM_014868 human genbank 54_36p 1 reviewed missense c.782 p.S261N 1 HMMPfam_zf-C3HC4 HMMPfam_zf-C3HC4;superfamily_RING/U-box - no_errors NBEA 26960 genome.wustl.edu 36 13 34513294 34513294 + Missense_Mutation SNP G A A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 13 34513294 34513294 G A SNP NBEA NM_015678 human genbank 54_36p 1 reviewed missense c.519 p.M173I 1 NULL HMMPfam_Beach;HMMPfam_WD40;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_DUF1088;superfamily_WD40 repeat-like;superfamily_ARM repeat;superfamily_PH domain-like;superfamily_BEACH domain - no_errors DIAPH3 81624 genome.wustl.edu 36 13 59305280 59305280 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 13 59305280 59305280 A T SNP DIAPH3 NM_001042517 human genbank 54_36p -1 validated missense c.2989 p.F997I 0.99 NULL - - no_errors HERC2 8924 genome.wustl.edu 36 15 26184666 26184666 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 15 26184666 26184666 C T SNP HERC2 NM_004667 human genbank 54_36p -1 validated missense c.1648 p.G550R 1 HMMPfam_RCC1 HMMPfam_RCC1;HMMPfam_ZZ;HMMPfam_HECT;superfamily_Spermadhesin CUB domain;HMMPfam_Cyt-b5;superfamily_Cytochrome b5-like heme/steroid binding domain;superfamily_Galactose-binding domain-like;superfamily_RCC1/BLIP-II;HMMPfam_MIB_HERC2;superfamily_Hect E3 ligase catalytic domain - no_errors MYO5C 55930 genome.wustl.edu 36 15 50359104 50359104 + Silent SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 15 50359104 50359104 G A SNP MYO5C NM_018728 human genbank 54_36p -1 validated silent c.198 p.L66 0.99 NULL HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_DIL;HMMPfam_Myosin_N;superfamily_Myosin S1 fragment N-terminal domain;superfamily_Hypothetical protein yfbM;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LRRK1 79705 genome.wustl.edu 36 15 99383843 99383843 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 15 99383843 99383843 G A SNP LRRK1 NM_024652 human genbank 54_36p 1 validated missense c.2383 p.D795N 1 NULL HMMPfam_Pkinase;superfamily_Ankyrin repeat;superfamily_Protein kinase-like (PK-like);superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase;superfamily_L domain-like;superfamily_P-loop containing nucleoside triphosphate hydrolases;HMMPfam_LRR_1;Ank;HMMPfam_Ank;Miro;HMMPfam_Miro;Pkinase;LRR_1 - no_errors CREBBP 1387 genome.wustl.edu 36 16 3730521 3730521 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 16 3730521 3730521 A G SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.4013 p.L1338S 0.99 HMMPfam_DUF906 HMMPfam_zf-TAZ;superfamily_TAZ domain;HMMPfam_ZZ;HMMPfam_Bromodomain;HMMPfam_KIX;superfamily_Nuclear receptor coactivator interlocking domain;HMMPfam_DUF906;HMMPfam_DUF902;superfamily_FYVE/PHD zinc finger;HMMPfam_Creb_binding;superfamily_Kix domain of CBP (creb binding protein);superfamily_Bromodomain;superfamily_Immunoglobulin - no_errors GPS2 2874 genome.wustl.edu 36 17 7157457 7157470 + Frame_Shift_Del DEL ATAGGGCTGTGGCT ATAGGGCTGTGGCT - novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 ATAGGGCTGTGGCT ATAGGGCTGTGGCT ATAGGGCTGTGGCT - ATAGGGCTGTGGCT ATAGGGCTGTGGCT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 17 7157457 7157470 ATAGGGCTGTGGCT - DEL GPS2 NM_004489 human genbank 54_36p -1 reviewed frame_shift_del c.690_677 p.Q226fs 0.594:0.991:1.000:1.000:0.999:0.995:0.996:0.998:1.000:1.000:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[7157423;7157512]) no_errors TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 17 7518272 7518272 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245V 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors ZNF236 7776 genome.wustl.edu 36 18 72800760 72800760 + Missense_Mutation SNP G A A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 18 72800760 72800760 G A SNP ZNF236 NM_007345 human genbank 54_36p 1 validated missense c.5236 p.G1746R 1 NULL HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors ADNP2 22850 genome.wustl.edu 36 18 75996890 75996890 + Missense_Mutation SNP G T T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 18 75996890 75996890 G T SNP ADNP2 NM_014913 human genbank 54_36p 1 validated missense c.2603 p.G868V NULL - - no_errors CHERP 10523 genome.wustl.edu 36 19 16499986 16499986 + Missense_Mutation SNP C T T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 19 16499986 16499986 C T SNP CHERP NM_006387 human genbank 54_36p -1 validated missense c.1210 p.G404S 0.91 NULL - - no_errors LOC648390 648390 genome.wustl.edu 36 2 136803840 136803840 + RNA SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 2 136803840 136803840 C T SNP LOC648390 XR_037845 human genbank 54_36p -1 model rna NULL NULL 0.99 - - - pseudogene KIAA1486 57624 genome.wustl.edu 36 2 225981934 225981934 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 2 225981934 225981934 G A SNP KIAA1486 NM_020864 human genbank 54_36p 1 validated missense c.94 p.D32N 1 NULL - - no_errors CBLN4 140689 genome.wustl.edu 36 20 54007121 54007121 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 20 54007121 54007121 G T SNP CBLN4 NM_080617 human genbank 54_36p -1 reviewed missense c.505 p.L169I 1 NULL - - no_errors LZTR1 8216 genome.wustl.edu 36 22 19670180 19670180 + Missense_Mutation SNP G G T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 22 19670180 19670180 G T SNP LZTR1 NM_006767 human genbank 54_36p 1 reviewed missense c.314 p.W105L 1 HMMPfam_Kelch_1 HMMPfam_Kelch_1;superfamily_Galactose oxidase central domain;HMMPfam_Kelch_2;superfamily_POZ domain;Kelch_1;Kelch_2;BTB;HMMPfam_BTB - no_errors ARPP21 10777 genome.wustl.edu 36 3 35745918 35745918 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 3 35745918 35745918 C T SNP ARPP-21 NM_016300 human genbank 54_36p 1 validated missense c.1345 p.P449S 0.83 NULL - - no_errors N4BP2 55728 genome.wustl.edu 36 4 39801168 39801168 + Missense_Mutation SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 4 39801168 39801168 G A SNP N4BP2 NM_018177 human genbank 54_36p 1 reviewed missense c.4225 p.V1409I 1 NULL HMMPfam_Smr;superfamily_UBA-like;HMMPfam_DUF1771;superfamily_TPR-like;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors KIAA1919 91749 genome.wustl.edu 36 6 111694142 111694142 + Silent SNP C T T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 6 111694142 111694142 C T SNP KIAA1919 NM_153369 human genbank 54_36p 1 validated silent c.684 p.N228 NULL - - no_errors RELN 5649 genome.wustl.edu 36 7 103063216 103063216 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 7 103063216 103063216 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.2357 p.R786K 0.99 NULL HMMPfam_BNR;HMMPfam_Reeler;HMMPfam_EGF_2 - no_errors SLC26A4 5172 genome.wustl.edu 36 7 107129517 107129517 + Missense_Mutation SNP A A G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 7 107129517 107129517 A G SNP SLC26A4 NM_000441 human genbank 54_36p 1 reviewed missense c.1813 p.I605V 1 HMMPfam_STAS HMMPfam_STAS;superfamily_Anti-sigma factor antagonist SpoIIaa;HMMPfam_Sulfate_transp - no_errors C7orf66 154907 genome.wustl.edu 36 7 108311757 108311757 + Silent SNP T T C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 7 108311757 108311757 T C SNP C7orf66 NM_001024607 human genbank 54_36p -1 predicted silent c.69 p.R23 NULL - - no_errors LOC136157 136157 genome.wustl.edu 36 7 123903965 123903965 + Missense_Mutation SNP C C A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 7 123903965 123903965 C A SNP LOC136157 NM_001085395 human genbank 54_36p 1 validated missense c.305 p.T102N 0.945 NULL - - no_errors TWISTNB 221830 genome.wustl.edu 36 7 19704534 19704534 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 7 19704534 19704534 C G SNP TWISTNB NM_001002926 human genbank 54_36p -1 validated missense c.947 p.S316T 0.95 NULL - - no_errors DNM1P33 554175 genome.wustl.edu 36 15 72143103 72143103 + Silent SNP G G A novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 15 72143103 72143103 G A SNP DNM1P33 ENST00000339692 human ensembl 54_36p 1 known silent c.228 p.S76 0.99 NULL - - no_errors DNM1P34 729809 genome.wustl.edu 36 15 73381109 73381109 + Silent SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 15 73381109 73381109 C T SNP DNM1P34 ENST00000404411 human ensembl 54_36p -1 known silent c.228 p.S76 0.99 NULL - - no_errors KCNK9 51305 genome.wustl.edu 36 8 140700147 140700147 + Missense_Mutation SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 8 140700147 140700147 C T SNP KCNK9 NM_016601 human genbank 54_36p -1 reviewed missense c.661 p.V221M 1 HMMPfam_Ion_trans_2 HMMPfam_Ion_trans_2;superfamily_Voltage-gated potassium channels - no_errors LOC100128775 100128775 genome.wustl.edu 36 1 84483051 84483051 + RNA SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd 1 84483051 84483051 C T SNP LOC100128775 XR_039769 human genbank 54_36p 1 model rna NULL NULL 0.35 - - - pseudogene ODZ1 10178 genome.wustl.edu 36 X 123345863 123345863 + Missense_Mutation SNP G G C novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd X 123345863 123345863 G C SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6578 p.P2193R 1 NULL HMMPfam_NHL;HMMPfam_EGF;HMMPfam_RHS_repeat;superfamily_Carboxypeptidase regulatory domain;HMMPfam_Ten_N;superfamily_Nitrous oxide reductase N-terminal domain;HMMPfam_EGF_2;superfamily_NHL repeat;superfamily_EGF/Laminin - no_errors FGF13 2258 genome.wustl.edu 36 X 137542740 137542740 + Silent SNP C C T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd X 137542740 137542740 C T SNP FGF13 NM_004114 human genbank 54_36p -1 reviewed silent c.675 p.K225 1 NULL - - no_errors CASK 8573 genome.wustl.edu 36 X 41415661 41415661 + Missense_Mutation SNP C C G novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd X 41415661 41415661 C G SNP CASK NM_003688 human genbank 54_36p -1 validated missense c.496 p.A166P 1 HMMPfam_Pkinase HMMPfam_Pkinase,superfamily_SH3-domain,HMMPfam_PDZ,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,superfamily_Protein kinase-like (PK-like),HMMPfam_SH3_2,HMMPfam_L27,superfamily_L27 domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ASB12 142689 genome.wustl.edu 36 X 63361984 63361984 + Missense_Mutation SNP A A T novel Unknown TCGA-24-0966-01A-01W-0977-09 TCGA-24-0966-10A-01W-0421-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx dc069342-661a-4012-9bda-0c67469e117d 08f810ef-47cc-474c-b042-7994e73c2ddd X 63361984 63361984 A T SNP ASB12 NM_130388 human genbank 54_36p -1 reviewed missense c.245 p.V82D 1 NULL - - no_errors