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 transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain PANK4 55229 genome.wustl.edu 37 1 2442174 2442174 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018216.1 -1 reviewed p.I627M 1.000 13 0% 16 68.8% 10 30% - - - HMMPfam_DUF89,superfamily_Hypothetical protein At2g17340 RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e SLC2A7 155184 genome.wustl.edu 37 1 9083117 9083117 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_207420.2 -1 provisional p.N57 0.017 140 0% 122 36.9% 1 0% - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter PRAMEF4 400735 genome.wustl.edu 37 1 12943095 12943095 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001009611.2 -1 validated p.L41 0.089 248 0% 206 42.7% 0 - - - - superfamily_SSF52047 DDI2 84301 genome.wustl.edu 37 1 15964878 15964878 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032341.3 +1 provisional p.Y237H 1.000 200 0% 191 41.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acid proteases,HMMPfam_Asp_protease TAS1R2 80834 genome.wustl.edu 37 1 19166927 19166927 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152232.2 -1 validated p.H562 0.808 77 0% 76 46.1% 2 0% - - - NULL MACF1 23499 genome.wustl.edu 37 1 39844153 39844153 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_033044.2 +1 reviewed p.G2852* 1.000 108 0% 72 38.9% 0 - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin DMBX1 127343 genome.wustl.edu 37 1 46976764 46976764 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_147192.2 +1 reviewed p.R169H 0.000 103 0% 72 40.3% 0 - benign(0) tolerated(0.57) neutral(0.006) NULL ACOT11 26027 genome.wustl.edu 37 1 55065043 55065043 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015547.2 +1 reviewed p.D280G 1.000 67 0% 61 42.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase KANK4 163782 genome.wustl.edu 37 1 62703951 62703951 + Nonstop_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_181712.4 -1 validated p.*996Q 0.562 34 0% 13 30.8% 30 66.6% - - - NULL PGM1 5236 genome.wustl.edu 37 1 64102017 64102017 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002633.2 +1 reviewed p.R329H 0.883 105 0% 95 46.3% 5 20% possibly_damaging(0.771) tolerated(0.13) deleterious(0.539) HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase first 3 domains DEPDC1 55635 genome.wustl.edu 37 1 68942697 68942697 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001114120.1 -1 validated p.E785G 1.000 119 0% 112 36.6% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DNAJB4 11080 genome.wustl.edu 37 1 78478980 78478980 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007034.3 +1 provisional p.R153C 0.997 302 0% 284 43.7% 1 0% benign(0.07) deleterious(0.01) neutral(0.411) NULL ALG14 199857 genome.wustl.edu 37 1 95448777 95448777 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_144988.3 -1 validated p.I169T 1.000 145 0% 113 23.9% 13 0% benign(0.093) deleterious(0.04) neutral(0.356) HMMPfam_Alg14,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase LOC126987 126987 genome.wustl.edu 37 1 106623729 106623729 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 XM_002342097.1 -1 model p.S110 0.999 24 0% 18 33.3% 0 - - - - NULL PHGDH 26227 genome.wustl.edu 37 1 120269521 120269521 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006623.3 +1 reviewed p.R135Q 1.000 114 0% 99 35.4% 47 31.9% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-binding Rossmann-fold domains GJA5 2702 genome.wustl.edu 37 1 147231020 147231020 + Silent SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005266.5 -1 reviewed p.R109 0.769 127 0% 142 28.2% 0 - - - - HMMPfam_Connexin OTUD7B 56957 genome.wustl.edu 37 1 149916838 149916838 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020205.2 -1 validated p.R484W 0.980 226 0% 255 22% 6 50% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL RPRD2 23248 genome.wustl.edu 37 1 150444477 150444477 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015203.3 +1 validated p.R1018H 0.840 424 0% 518 17.4% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FLG 2312 genome.wustl.edu 37 1 152284305 152284305 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002016.1 -1 reviewed p.A1019 0.000 427 0% 499 34.5% 0 - - - - NULL UBAP2L 9898 genome.wustl.edu 37 1 154218817 154218817 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014847.3 +1 validated p.P327H 1.000 154 0% 178 22.5% 5 40% possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) NULL MTX1 4580 genome.wustl.edu 37 1 155181921 155181921 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002455.3 +1 validated p.Y228H 1.000 47 0% 63 36.5% 87 20.6% probably_damaging(0.997) tolerated(0.13) deleterious(0.719) HMMPfam_Tom37 CLK2 1196 genome.wustl.edu 37 1 155233190 155233190 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003993.2 -1 reviewed p.R439Q 1.000 53 0% 47 23.4% 128 9.3% possibly_damaging(0.445) tolerated(0.56) neutral(0.152) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CLK2 1196 genome.wustl.edu 37 1 155236573 155236573 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003993.2 -1 reviewed p.Y261C 1.000 49 0% 73 38.4% 49 30.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase OR10X1 128367 genome.wustl.edu 37 1 158549050 158549050 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004477.1 -1 provisional p.I214V 0.000 188 0% 219 30.6% 0 - benign(0.182) tolerated(1) neutral(0.017) HMMPfam_7tm_1,superfamily_SSF81321 OR10J3 441911 genome.wustl.edu 37 1 159283745 159283745 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004467.1 -1 provisional p.Q235H 0.545 282 0% 282 28% 0 - possibly_damaging(0.565) deleterious(0) deleterious(0.637) HMMPfam_7tm_1,superfamily_SSF81321 FCRL6 343413 genome.wustl.edu 37 1 159778152 159778152 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004310.2 +1 validated p.G79 0.025 250 0% 207 30% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin LOC100287448 100287448 genome.wustl.edu 37 1 160012095 160012095 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 XM_002342164.1 +1 model p.C109R 0.956 316 0.3% 351 30.8% 0 - - - - NULL LY9 4063 genome.wustl.edu 37 1 160783653 160783653 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002348.2 +1 validated p.V228I 0.640 296 0.3% 352 26.1% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_Immunoglobulin TADA1 117143 genome.wustl.edu 37 1 166829473 166829473 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_053053.3 -1 validated p.P214 0.286 128 0% 119 30.3% 0 - - - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171560884 171560884 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000412837 +1 known p.K1887R 1.000 197 0% 243 33.7% 10 50% - - - NULL CENPL 91687 genome.wustl.edu 37 1 173772291 173772291 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001127181.2 -1 validated p.P304Q 1.000 185 0% 195 29.7% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CENPL 91687 genome.wustl.edu 37 1 173780309 173780309 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001127181.2 -1 validated p.T43 0.618 601 0% 772 21.1% 0 - - - - NULL DARS2 55157 genome.wustl.edu 37 1 173822697 173822697 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018122.4 +1 reviewed p.P519S 1.000 139 0% 162 32.7% 3 66.6% probably_damaging(0.999) tolerated(0.48) deleterious(0.501) HMMPfam_tRNA-synt_2,superfamily_SSF55681 CEP350 9857 genome.wustl.edu 37 1 180034367 180034367 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014810.4 +1 reviewed p.M1843V 1.000 66 0% 90 31.1% 0 - possibly_damaging(0.916) deleterious(0.03) deleterious(0.732) NULL ZNF648 127665 genome.wustl.edu 37 1 182025893 182025893 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001009992.1 -1 provisional p.R418Q 0.943 7 0.000 13 0.308 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF57667 TPR 7175 genome.wustl.edu 37 1 186301421 186301421 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003292.2 -1 reviewed p.D1837G 1.000 115 0% 145 26.2% 14 14.2% possibly_damaging(0.44) tolerated(0.06) neutral(0.466) NULL KCNT2 343450 genome.wustl.edu 37 1 196397396 196397396 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_198503.2 -1 validated p.E275K 1.000 97 0% 132 25.8% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels CFH 3075 genome.wustl.edu 37 1 196712711 196712711 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000186.3 +1 reviewed p.E1088G 0.616 492 0% 604 19.7% 11 9% possibly_damaging(0.656) tolerated(0.17) neutral(0.290) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain KIF14 9928 genome.wustl.edu 37 1 200584666 200584666 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014875.2 -1 validated p.T395M 0.996 158 0% 192 28.6% 0 - benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 CNTN2 6900 genome.wustl.edu 37 1 205036348 205036348 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005076.2 +1 reviewed p.P699S 1.000 76 0% 77 28.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_FN_III-like RASSF5 83593 genome.wustl.edu 37 1 206757805 206757805 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_182663.2 +1 reviewed p.Q259 0.995 152 0% 206 30.1% 0 - - - - NULL IL10 3586 genome.wustl.edu 37 1 206945709 206945709 + Silent SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000572.2 -1 reviewed p.T24 0.027 71 0% 69 26.1% 0 - - - - HMMPfam_IL10 SYT14 255928 genome.wustl.edu 37 1 210273522 210273522 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_153262.2 +1 validated p.G294S 1.000 124 0% 172 25.6% 0 - benign(0.037) tolerated(0.07) neutral(0.321) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) EPRS 2058 genome.wustl.edu 37 1 220151974 220151974 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004446.2 -1 reviewed p.R1333* 0.806 225 0% 252 31.3% 43 4.6% - - - HMMPfam_HGTP_anticodon,superfamily_Anticodon_bd DUSP10 11221 genome.wustl.edu 37 1 221875854 221875854 + Missense_Mutation SNP T T G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007207.3 -1 reviewed p.N450T 1.000 311 0% 336 27.4% 12 16.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II OBSCN 84033 genome.wustl.edu 37 1 228506833 228506833 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001098623.1 +1 reviewed p.R4794C 0.864 22 0% 38 23.7% 3 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL TAF5L 27097 genome.wustl.edu 37 1 229730315 229730315 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014409.3 -1 reviewed p.G500V 1.000 72 0% 112 30.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TARBP1 6894 genome.wustl.edu 37 1 234556492 234556492 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005646.3 -1 reviewed p.R1171* 1.000 315 0% 455 29.7% 0 - - - - superfamily_ARM-type_fold GPR137B 7107 genome.wustl.edu 37 1 236343213 236343213 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003272.3 +1 validated p.V241A 1.000 304 0% 338 27.5% 0 - benign(0.001) tolerated(0.68) neutral(0.002) NULL FH 2271 genome.wustl.edu 37 1 241675321 241675321 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000143.2 -1 reviewed p.G167 0.934 434 0% 497 20.1% 9 22.2% - - - HMMPfam_Lyase_1,superfamily_L-aspartase-like AKT3 10000 genome.wustl.edu 37 1 243668575 243668575 + Silent SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005465.3 -1 reviewed p.S472 1.000 83 0% 77 18.2% 2 0% - - - HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_C SMYD3 64754 genome.wustl.edu 37 1 246093225 246093226 + Frame_Shift_Del DEL AG AG - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022743.2 -1 validated p.S123fs 0.876:0.987 - - - - - - - - - HMMSmart_SET,superfamily_SSF82199 AHCTF1 25909 genome.wustl.edu 37 1 247025322 247025322 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015446.4 -1 validated p.R1225Q 0.905 65 0% 88 35.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP3 114548 genome.wustl.edu 37 1 247588487 247588487 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001079821.2 +1 reviewed p.F581S 1.000 137 0% 150 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR2W5 441932 genome.wustl.edu 37 1 247655060 247655060 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004698.2 +1 validated p.A211T 0.005 209 0% 249 25.7% 0 - - - - HMMPfam_7tm_1 OR2G2 81470 genome.wustl.edu 37 1 247752299 247752299 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001001915.1 +1 provisional p.P213H 0.139 324 0% 357 25.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 POMC 5443 genome.wustl.edu 37 2 25384359 25384359 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000939.2 -1 reviewed p.P132L 0.087 5 0.000 7 0.714 15 73.3% benign(0) tolerated(0.14) neutral(0.249) NULL ALK 238 genome.wustl.edu 37 2 29416281 29416281 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004304.3 -1 reviewed p.E1558Q 1.000 429 0% 371 38.5% 0 - benign(0.414) deleterious(0) deleterious(0.579) NULL STRN 6801 genome.wustl.edu 37 2 37105036 37105036 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003162.2 -1 validated p.D441N 1.000 385 0% 334 39.5% 0 - possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL HEATR5B 54497 genome.wustl.edu 37 2 37240994 37240994 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_019024.1 -1 validated p.A1425D 1.000 102 0% 99 49.5% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKCE 5581 genome.wustl.edu 37 2 46207514 46207514 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005400.2 +1 reviewed p.P229 0.008 93 0% 81 38.3% 0 - - - - NULL TSPYL6 388951 genome.wustl.edu 37 2 54482384 54482384 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001003937.2 -1 validated p.P302H 0.957 215 0% 177 41.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAP ATP6V1B1 525 genome.wustl.edu 37 2 71187160 71187160 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001692.3 +1 reviewed p.R179 0.677 55 0% 49 38.8% 8 87.5% - - - HMMPfam_ATP-synt_ab,superfamily_SSF52540 ZNF638 27332 genome.wustl.edu 37 2 71650295 71650295 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001014972.1 +1 reviewed p.I1217 0.009 167 0% 141 38.3% 7 57.1% - - - NULL RETSAT 54884 genome.wustl.edu 37 2 85578850 85578850 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017750.3 -1 validated p.G103V 1.000 50 0% 49 38.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain GPAT2 150763 genome.wustl.edu 37 2 96688915 96688915 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_207328.2 -1 validated p.P696 0.015 23 0% 34 52.9% 27 37% - - - NULL LIMS1 3987 genome.wustl.edu 37 2 109297179 109297179 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004987.3 +1 reviewed p.C272 0.803 90 0% 83 27.7% 10 10% - - - HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 BIN1 274 genome.wustl.edu 37 2 127827579 127827579 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_139343.1 -1 reviewed p.D135N 1.000 20 0% 14 35.7% 15 40% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_BAR,HMMSmart_SM00721 LCT 3938 genome.wustl.edu 37 2 136566477 136566477 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002299.2 -1 reviewed p.L1147P 0.999 92 0% 91 51.6% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat TTC21B 79809 genome.wustl.edu 37 2 166732697 166732697 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024753.3 -1 validated p.D1284G 1.000 100 0% 71 33.8% 7 14.2% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00028,superfamily_TPR-like TTN 7273 genome.wustl.edu 37 2 179427308 179427308 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000356127 -1 known p.P25281S 1.000 135 0% 98 33.7% 0 - probably_damaging(1) - - HMMPfam_fn3 SF3B1 23451 genome.wustl.edu 37 2 198257052 198257052 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012433.2 -1 reviewed p.R1297H 1.000 69 0% 63 28.6% 410 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLCL1 5334 genome.wustl.edu 37 2 198950755 198950755 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006226.3 +1 validated p.H740 0.183 242 0% 185 47.6% 0 - - - - superfamily_C2_CaLB KCTD18 130535 genome.wustl.edu 37 2 201371697 201371697 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152387.2 -1 validated p.R15* 0.934 68 0% 55 47.3% 0 - - - - HMMPfam_K_tetra,superfamily_POZ domain ERBB4 2066 genome.wustl.edu 37 2 212989562 212989562 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005235.2 -1 reviewed p.R50H 1.000 75 0% 53 37.7% 0 - probably_damaging(0.989) tolerated(0.12) deleterious(0.700) superfamily_L domain-like CNPPD1 27013 genome.wustl.edu 37 2 220040384 220040384 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015680.4 -1 validated p.V63 1.000 81 0% 58 46.6% 2 0% - - - HMMPfam_Cyclin SPEG 10290 genome.wustl.edu 37 2 220326644 220326644 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005876.4 +1 validated p.D827 0.597 60 0% 63 46% 25 52% - - - NULL NYAP2 57624 genome.wustl.edu 37 2 226447570 226447570 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020864.1 +1 validated p.P479 0.000 54 0% 28 39.3% 0 - - - - NULL SLC16A14 151473 genome.wustl.edu 37 2 230911371 230911371 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152527.4 -1 validated p.R157 0.999 92 0% 81 39.5% 2 50% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter B3GNT7 93010 genome.wustl.edu 37 2 232262515 232262515 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_145236.2 +1 validated p.L29I 0.842 18 0% 20 25% 2 0% benign(0.027) tolerated(0.89) neutral(0.002) NULL GIGYF2 26058 genome.wustl.edu 37 2 233656045 233656045 + Missense_Mutation SNP G G C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001103147.1 +1 reviewed p.A412P 0.940 316 0% 255 45.5% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL HDAC4 9759 genome.wustl.edu 37 2 239988532 239988532 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006037.3 -1 reviewed p.K958N 1.000 25 0% 21 52.4% 0 - possibly_damaging(0.799) deleterious(0.04) deleterious(0.650) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase FARP2 9855 genome.wustl.edu 37 2 242432832 242432832 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014808.2 +1 validated p.R1007Q 1.000 35 0% 30 50% 13 46.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like D2HGDH 728294 genome.wustl.edu 37 2 242690743 242690743 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000432449 +1 known p.R114C 0.073 26 0% 27 44.4% 5 80% - - - HMMPfam_FAD-oxidase_C,superfamily_FAD-linked oxidases C-terminal domain EDEM1 9695 genome.wustl.edu 37 3 5255168 5255168 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014674.2 +1 validated p.P615 0.001 50 0% 29 51.7% 2 0% - - - NULL PPARG 5468 genome.wustl.edu 37 3 12458437 12458437 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015869.4 +1 reviewed p.E352K 1.000 166 0% 87 44.8% 20 55% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ZFYVE20 64145 genome.wustl.edu 37 3 15116031 15116031 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022340.2 -1 validated p.R538L 0.165 135 0% 131 45% 0 - benign(0) tolerated(1) - NULL SCN10A 6336 genome.wustl.edu 37 3 38835250 38835250 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006514.2 -1 validated p.P84 0.998 587 0% 579 38.5% 0 - - - - NULL EXOSC7 23016 genome.wustl.edu 37 3 45046872 45046872 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015004.3 +1 validated p.V194A 1.000 228 0% 202 39.1% 100 38% benign(0.043) tolerated(0.07) neutral(0.322) NULL CLEC3B 7123 genome.wustl.edu 37 3 45077077 45077077 + Silent SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003278.2 +1 validated p.T90 1.000 36 0% 25 56% 14 0% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CSPG5 10675 genome.wustl.edu 37 3 47619182 47619182 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006574.3 -1 validated p.T112A 0.307 8 0.000 9 0.556 6 0% possibly_damaging(0.889) deleterious(0) deleterious(0.794) HMMPfam_Chon_Sulph_att CELSR3 1951 genome.wustl.edu 37 3 48686197 48686197 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001407.2 -1 reviewed p.Q2244H 1.000 5 0.000 6 0.833 0 - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL LAMB2 3913 genome.wustl.edu 37 3 49160758 49160758 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002292.3 -1 reviewed p.E1344G 1.000 61 0% 57 47.4% 29 27.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TRAIP 10293 genome.wustl.edu 37 3 49866910 49866910 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005879.2 -1 reviewed p.R423Q 0.997 63 0% 49 36.7% 20 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPRBP 9730 genome.wustl.edu 37 3 51477907 51477907 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014703.2 -1 validated p.E130K 1.000 114 0% 120 39.2% 0 - benign(0.027) tolerated(0.83) neutral(0.002) superfamily_ARM repeat CACNA1D 776 genome.wustl.edu 37 3 53808638 53808638 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000720.2 +1 validated p.D1399Y 1.000 79 0% 74 35.1% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Ion_trans,superfamily_SSF81324 CCDC66 285331 genome.wustl.edu 37 3 56655847 56655851 + RNA DEL AAAAA AAAAA - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 AAAAA AAAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NR_024460.1 +1 validated NULL 0.000:0.000:0.007:0.115:0.134 - - - - - - - - - - FLNB 2317 genome.wustl.edu 37 3 58132691 58132691 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001457.3 +1 reviewed p.P1900H 1.000 70 0% 52 46.2% 8 25% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin OR5H6 79295 genome.wustl.edu 37 3 97983879 97983879 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001005479.1 +1 provisional p.R251* 0.000 184 0% 139 40.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 RG9MTD1 54931 genome.wustl.edu 37 3 101283742 101283742 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017819.2 +1 provisional p.Y39 0.001 327 0% 297 46.5% 5 20% - - - NULL TPRA1 131601 genome.wustl.edu 37 3 127292461 127292461 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016372.2 -1 validated p.G342D 0.996 21 0% 19 26.3% 112 42.8% benign(0.045) deleterious(0.01) neutral(0.408) NULL ESYT3 83850 genome.wustl.edu 37 3 138191381 138191381 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_031913.3 +1 validated p.D639 0.000 199 0% 186 43.5% 1 100% - - - NULL MED12L 116931 genome.wustl.edu 37 3 151078369 151078369 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_053002.4 +1 reviewed p.R943I 1.000 377 0% 311 47.6% 0 - possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006218.2 +1 reviewed p.R38H 1.000 167 0% 168 47% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178916936 178916936 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006218.2 +1 reviewed p.R108H 1.000 210 0% 171 50.3% 0 - possibly_damaging(0.945) tolerated(0.06) deleterious(0.712) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236 TP63 8626 genome.wustl.edu 37 3 189586389 189586389 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003722.4 +1 reviewed p.R338H 0.999 182 0% 136 50.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 LEPREL1 55214 genome.wustl.edu 37 3 189692408 189692408 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018192.3 -1 validated p.R464Q 1.000 117 0% 117 38.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00702 HTT 3064 genome.wustl.edu 37 4 3237461 3237461 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002111.6 +1 reviewed p.R2914L 1.000 28 0% 16 37.5% 16 25% probably_damaging(1) tolerated(1) deleterious(0.500) NULL EVC 2121 genome.wustl.edu 37 4 5735137 5735137 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_153717.2 +1 reviewed p.T226M 0.007 426 0% 335 39.4% 0 - unknown(0) deleterious(0.05) - NULL GRPEL1 80273 genome.wustl.edu 37 4 7065881 7065881 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_025196.2 -1 provisional p.M44I 0.000 40 0% 40 42.5% 17 41.1% benign(0) tolerated(0.19) neutral(0.050) NULL SORCS2 57537 genome.wustl.edu 37 4 7716003 7716003 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020777.2 +1 reviewed p.R676W 1.000 19 0% 13 53.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00602 KLF3 51274 genome.wustl.edu 37 4 38690413 38690413 + Silent SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016531.5 +1 validated p.R89 0.974 153 0% 108 50.9% 1 0% - - - NULL TLR6 10333 genome.wustl.edu 37 4 38828786 38828786 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006068.3 -1 validated p.R770H 0.812 161 0% 133 42.9% 0 - possibly_damaging(0.485) tolerated(1) neutral(0.161) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR CHRNA9 55584 genome.wustl.edu 37 4 40351319 40351319 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017581.2 +1 reviewed p.P262 0.985 753 0.1% 631 39.6% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore PHOX2B 8929 genome.wustl.edu 37 4 41749373 41749373 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003924.3 -1 reviewed p.R141Q 1.000 7 0.000 17 0.647 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 DCAF4L1 285429 genome.wustl.edu 37 4 41984296 41984296 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001029955.3 +1 validated p.R163W 0.933 184 0% 125 44% 0 - benign(0.322) deleterious(0) deleterious(0.545) superfamily_WD40 repeat-like NOA1 84273 genome.wustl.edu 37 4 57842757 57842757 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032313.2 -1 provisional p.Q332R 1.000 54 0% 56 35.7% 2 100% possibly_damaging(0.516) tolerated(0.44) neutral(0.186) superfamily_SSF52540 YTHDC1 91746 genome.wustl.edu 37 4 69202890 69202890 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001031732.2 -1 validated p.E246 0.643 254 0% 198 49.5% 2 100% - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77676129 77676129 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020859.3 +1 validated p.P1498L 0.189 98 0% 83 43.4% 0 - benign(0.023) deleterious(0) neutral(0.446) NULL CCNG2 901 genome.wustl.edu 37 4 78085442 78085444 + In_Frame_Del DEL TTC TTC - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004354.2 +1 reviewed p.F242in_frame_del 0.998:1.000:0.991 - - - - - - - - - NULL FRAS1 80144 genome.wustl.edu 37 4 79173607 79173607 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_025074.6 +1 reviewed p.R124Q 0.027 158 0% 154 45.5% 0 - benign(0.082) tolerated(0.37) neutral(0.025) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 NKX6-1 4825 genome.wustl.edu 37 4 85416882 85416882 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006168.2 -1 validated p.A262 0.952 70 0% 60 48.3% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like DSPP 1834 genome.wustl.edu 37 4 88533938 88533938 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014208.3 +1 reviewed p.I200 0.000 173 0% 131 45% 0 - - - - NULL EMCN 51705 genome.wustl.edu 37 4 101337095 101337095 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016242.3 -1 validated p.S237 1.000 91 0% 78 46.2% 0 - - - - HMMPfam_Endomucin TBCK 93627 genome.wustl.edu 37 4 107154782 107154782 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_033115.3 -1 validated p.A429V 1.000 66 0% 74 40.5% 1 100% benign(0.256) tolerated(0.27) neutral(0.060) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC EGF 1950 genome.wustl.edu 37 4 110862109 110862109 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001963.4 +1 reviewed p.A45 0.154 245 0% 252 10.3% 0 - - - - superfamily_SSF63825 ENPEP 2028 genome.wustl.edu 37 4 111397618 111397618 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001977.3 +1 validated p.T16 0.000 193 0% 168 37.5% 0 - - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123113394 123113394 + Silent SNP G G A rs143187683 by1000genomes TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000424425 +1 known p.G137R 1.000 90 0% 75 48% 0 - - - - NULL ARFIP1 27236 genome.wustl.edu 37 4 153809337 153809337 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001025595.1 +1 validated p.R282C 1.000 132 0% 94 39.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arfaptin DCHS2 54798 genome.wustl.edu 37 4 155219700 155219700 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017639.3 -1 validated p.R1467 0.000 300 0% 272 42.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like ANP32C 23520 genome.wustl.edu 37 4 165118507 165118507 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012403.1 -1 reviewed p.C119 1.000 236 0% 186 41.4% 1 0% - - - superfamily_L domain-like DDX60 55601 genome.wustl.edu 37 4 169145442 169145442 + Silent SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000511317 -1 known p.C85S 0.845 189 0% 168 37.5% 4 50% - - - NULL DCTD 1635 genome.wustl.edu 37 4 183815750 183815750 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001012732.1 -1 reviewed p.A96T 0.998 179 0% 112 32.1% 13 53.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_dCMP_cyt_deam_1,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like LOC391722 391722 genome.wustl.edu 37 4 185220396 185220396 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 XM_373042.2 -1 model p.T340 1.000 204 0% 132 12.1% 0 - - - - superfamily_EF-hand HELT 391723 genome.wustl.edu 37 4 185941564 185941564 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001029887.1 +1 provisional p.Q208* 1.000 69 0% 67 11.9% 0 - - - - HMMPfam_Hairy_orange CLPTM1L 81037 genome.wustl.edu 37 5 1341804 1341804 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030782.3 -1 provisional p.T145 0.004 33 0% 24 33.3% 3 100% - - - HMMPfam_CLPTM1 CDH9 1007 genome.wustl.edu 37 5 26906080 26906080 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016279.3 -1 reviewed p.R267* 0.998 215 0% 167 44.3% 0 - - - - superfamily_Cadherin PARP8 79668 genome.wustl.edu 37 5 50090895 50090895 + Missense_Mutation SNP A A C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024615.3 +1 validated p.K358Q 1.000 176 0% 147 43.5% 2 100% benign(0) tolerated(0.36) neutral(0.020) NULL MAP3K1 4214 genome.wustl.edu 37 5 56177968 56177968 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005921.1 +1 validated p.P981A 1.000 249 0% 160 33.8% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL IQGAP2 10788 genome.wustl.edu 37 5 75871583 75871583 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006633.2 +1 validated p.I149 1.000 126 0% 128 40.6% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain DMXL1 1657 genome.wustl.edu 37 5 118485469 118485469 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005509.4 +1 validated p.H1316R 1.000 191 0% 152 32.9% 3 100% benign(0.089) tolerated(1) neutral(0.006) NULL MEGF10 84466 genome.wustl.edu 37 5 126734453 126734453 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032446.2 +1 validated p.V249I 1.000 152 0% 113 40.7% 0 - benign(0.002) tolerated(0.46) neutral(0.012) HMMSmart_SM00181,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127622436 127622436 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001999.3 -1 reviewed p.R2329Q 0.971 92 0% 80 37.5% 0 - benign(0.141) tolerated(0.42) neutral(0.026) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,superfamily_EGF/Laminin PHF15 23338 genome.wustl.edu 37 5 133898036 133898036 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015288.4 +1 provisional p.S277R 1.000 30 0% 44 47.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PITX1 5307 genome.wustl.edu 37 5 134364919 134364919 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002653.4 -1 reviewed p.S165 1.000 29 0% 29 48.3% 1 0% - - - NULL KLHL3 26249 genome.wustl.edu 37 5 137056158 137056158 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017415.2 -1 validated p.R44W 1.000 323 0% 226 44.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_POZ domain,HMMPfam_BTB FAM13B 51306 genome.wustl.edu 37 5 137289931 137289931 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016603.2 -1 validated p.D526Y 1.000 187 0% 129 39.5% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL PCDHA3 56145 genome.wustl.edu 37 5 140182900 140182900 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018906.2 +1 reviewed p.A706 0.070 96 0% 75 46.7% 0 - - - - NULL WWC1 23286 genome.wustl.edu 37 5 167858266 167858266 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015238.2 +1 reviewed p.R699 0.117 141 0% 149 48.3% 5 60% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PANK3 79646 genome.wustl.edu 37 5 167984623 167984623 + Missense_Mutation SNP A A T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024594.2 -1 reviewed p.Y356N 0.998 155 0% 158 39.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fumble,superfamily_SSF53067 CPEB4 80315 genome.wustl.edu 37 5 173316738 173316738 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030627.2 +1 validated p.M1T 1.000 329 0% 256 45.3% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL CPEB4 80315 genome.wustl.edu 37 5 173372021 173372021 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030627.2 +1 validated p.G445V 1.000 186 0.5% 154 38.3% 0 - benign(0) deleterious(0.05) neutral(0.345) NULL LMAN2 10960 genome.wustl.edu 37 5 176765529 176765529 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006816.2 -1 reviewed p.D131 0.857 79 0% 65 36.9% 226 50.8% - - - HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl BTNL3 10917 genome.wustl.edu 37 5 180432616 180432616 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_197975.1 +1 validated p.L382P 0.009 221 0% 184 44.6% 0 - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) HMMPfam_SPRY,HMMSmart_SPRY TRIM7 81786 genome.wustl.edu 37 5 180626991 180626991 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_203293.1 -1 reviewed p.R237S 0.961 90 0% 65 52.3% 1 0% possibly_damaging(0.925) deleterious(0) deleterious(0.818) NULL TUBB2B 347733 genome.wustl.edu 37 6 3225881 3225881 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_178012.4 -1 reviewed p.G148S 1.000 74 0% 74 21.6% 182 53.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like SLC22A23 63027 genome.wustl.edu 37 6 3273421 3273421 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015482.1 -1 validated p.P643 0.379 31 0% 43 39.5% 14 78.5% - - - NULL RREB1 6239 genome.wustl.edu 37 6 7248912 7248912 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001003699.3 +1 reviewed p.S1647N 0.998 38 0% 25 48% 2 50% possibly_damaging(0.746) deleterious(0.01) deleterious(0.679) NULL BMP6 654 genome.wustl.edu 37 6 7880555 7880555 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001718.4 +1 reviewed p.V507 0.333 178 0% 140 42.9% 0 - - - - HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 FAM65B 9750 genome.wustl.edu 37 6 24873112 24873112 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014722.2 -1 validated p.R111 1.000 73 0% 53 35.8% 0 - - - - NULL SCGN 10590 genome.wustl.edu 37 6 25670234 25670234 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006998.3 +1 reviewed p.L134H 1.000 330 0% 344 39% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand BTN3A1 11119 genome.wustl.edu 37 6 26406353 26406353 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007048.5 +1 validated p.R101Q 0.000 192 0% 144 25% 1 0% probably_damaging(0.997) tolerated(0.22) deleterious(0.508) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF184 7738 genome.wustl.edu 37 6 27425100 27425100 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007149.2 -1 validated p.D55V 0.989 314 0% 306 40.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) GABBR1 2550 genome.wustl.edu 37 6 29599213 29599213 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001470.2 -1 reviewed p.A83 1.000 90 0% 79 48.1% 0 - - - - HMMSmart_SM00032,superfamily_Complement control module/SCR domain LY6G6F 259215 genome.wustl.edu 37 6 31675860 31675860 + Missense_Mutation SNP A A T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001003693.1 +1 provisional p.I199F 0.112 114 0% 101 37.6% 0 - possibly_damaging(0.918) tolerated(0.14) deleterious(0.618) NULL RDBP 7936 genome.wustl.edu 37 6 31922644 31922644 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002904.5 -1 reviewed p.R144* 1.000 131 0% 122 45.1% 74 12.1% - - - NULL VPS52 6293 genome.wustl.edu 37 6 33218722 33218722 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022553.4 -1 reviewed p.R690W 1.000 102 0% 81 38.3% 96 41.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MLIP 90523 genome.wustl.edu 37 6 53989307 53989307 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_138569.2 +1 validated p.S86G 0.007 186 0% 141 39.7% 0 - benign(0.027) tolerated(0.06) neutral(0.324) NULL DST 667 genome.wustl.edu 37 6 56335937 56335937 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015548.4 -1 reviewed p.R4807W 0.998 44 0% 34 44.1% 0 - probably_damaging(1) - - HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand COL12A1 1303 genome.wustl.edu 37 6 75890693 75890693 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004370.5 -1 reviewed p.F709S 1.000 295 0% 279 36.9% 0 - benign(0.085) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NR2E1 7101 genome.wustl.edu 37 6 108501573 108501573 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003269.3 +1 validated p.I230T 1.000 108 0% 114 43.9% 0 - benign(0.271) tolerated(0.21) neutral(0.073) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain LOC100287430 100287430 genome.wustl.edu 37 6 116579937 116579937 + RNA SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 XR_078343.1 -1 model NULL 0.995 126 0% 67 46.3% 230 0.4% possibly_damaging(0.737) - - - ROS1 6098 genome.wustl.edu 37 6 117706926 117706926 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002944.2 -1 reviewed p.L742I 0.865 181 0% 125 24% 0 - benign(0) tolerated(0.84) neutral(0.001) HMMSmart_LY,superfamily_SSF63825 THEMIS 387357 genome.wustl.edu 37 6 128134089 128134089 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001010923.2 -1 reviewed p.T566I 0.000 268 0% 263 47.1% 0 - benign(0) tolerated(0.42) neutral(0.014) NULL PTPRK 5796 genome.wustl.edu 37 6 128294910 128294910 + Missense_Mutation SNP T T G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001135648.1 -1 validated p.E1350D 1.000 168 0% 147 38.8% 4 0% benign(0) tolerated(0.85) neutral(0.001) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LAMA2 3908 genome.wustl.edu 37 6 129807618 129807618 + Splice_Site DEL G G - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000426.3 +1 reviewed e56-1 1.000 - - - - - - - - - - TMEM200A 114801 genome.wustl.edu 37 6 130762335 130762335 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_052913.2 +1 provisional p.G256 0.998 347 0% 267 40.1% 0 - - - - NULL UTRN 7402 genome.wustl.edu 37 6 144812179 144812179 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007124.2 +1 reviewed p.V1460I 0.227 147 0% 104 50% 0 - probably_damaging(0.969) tolerated(0.06) deleterious(0.734) HMMSmart_SPEC,superfamily_Spectrin SASH1 23328 genome.wustl.edu 37 6 148865741 148865741 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015278.3 +1 validated p.S1045 0.000 53 0% 41 41.5% 0 - - - - NULL LATS1 9113 genome.wustl.edu 37 6 150005070 150005070 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004690.2 -1 reviewed p.S385 1.000 394 0% 293 41.6% 2 0% - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152510430 152510430 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_182961.2 -1 reviewed p.R7753H 1.000 152 0% 153 37.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat TAGAP 117289 genome.wustl.edu 37 6 159457224 159457224 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_054114.3 -1 reviewed p.E611K 0.000 73 0% 62 41.9% 0 - benign(0) tolerated(0.91) - NULL PAPOLB 56903 genome.wustl.edu 37 7 4900631 4900631 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020144.4 -1 validated p.R271W 0.144 494 0% 349 41% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_PAP_central,superfamily_SSF81631 RBAK 57786 genome.wustl.edu 37 7 5104522 5104522 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_021163.3 +1 reviewed p.H479Y 1.000 247 0% 221 38.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DAGLB 221955 genome.wustl.edu 37 7 6474420 6474420 + Silent SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_139179.3 -1 validated p.T217 0.998 197 0% 184 38% 1 0% - - - NULL THSD7A 221981 genome.wustl.edu 37 7 11446664 11446664 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015204.2 -1 validated p.R1312Q 1.000 50 0% 46 52.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat DNAH11 8701 genome.wustl.edu 37 7 21913069 21913069 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003777.3 +1 reviewed p.P4056T 1.000 111 0.9% 74 25.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy OSBPL3 26031 genome.wustl.edu 37 7 24874067 24874067 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000409452 -1 known p.R595Q 0.000 116 0% 97 46.4% 0 - unknown(0) - - NULL C7orf31 136895 genome.wustl.edu 37 7 25176293 25176293 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_138811.3 -1 validated p.P357 0.876 279 0% 216 49.5% 2 0% - - - NULL SCRN1 9805 genome.wustl.edu 37 7 29966215 29966215 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001145514.1 -1 reviewed p.D333 0.918 48 0% 47 42.6% 9 66.6% - - - NULL FAM188B 84182 genome.wustl.edu 37 7 30821663 30821663 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032222.2 +1 validated p.T85M 0.003 205 0% 183 36.1% 0 - possibly_damaging(0.93) tolerated(0.23) neutral(0.418) NULL ANLN 54443 genome.wustl.edu 37 7 36435887 36435887 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018685.2 +1 validated p.R11* 1.000 162 0% 132 44.7% 1 100% - - - NULL GLI3 2737 genome.wustl.edu 37 7 42004594 42004594 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000168.5 -1 reviewed p.G1359 1.000 65 0% 60 38.3% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48318114 48318114 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152701.3 +1 reviewed p.L2441 0.000 153 0% 138 42.8% 0 - - - - NULL COBL 23242 genome.wustl.edu 37 7 51258564 51258564 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015198.3 -1 validated p.A223E 0.996 41 0% 31 29% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cobl AKAP9 10142 genome.wustl.edu 37 7 91671438 91671438 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005751.4 +1 reviewed p.L1666M 0.999 127 0% 96 53.1% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL COL1A2 1278 genome.wustl.edu 37 7 94029554 94029554 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000089.3 +1 reviewed p.G60V 1.000 100 0% 87 40.2% 3 0% unknown(0) deleterious(0.01) - HMMPfam_Collagen PPP1R9A 55607 genome.wustl.edu 37 7 94540658 94540658 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017650.2 +1 validated p.N411K 0.939 86 0% 72 37.5% 0 - unknown(0) deleterious(0.03) - NULL ZNF3 7551 genome.wustl.edu 37 7 99668798 99668798 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032924.3 -1 validated p.T437A 0.307 167 0% 107 33.6% 6 16.6% benign(0.002) tolerated(0.34) neutral(0.023) NULL MUC17 140453 genome.wustl.edu 37 7 100676145 100676145 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001040105.1 +1 provisional p.V483A 0.000 1015 0.1% 721 41.6% 0 - unknown(0) - - NULL SERPINE1 5054 genome.wustl.edu 37 7 100778853 100778853 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000602.3 +1 reviewed p.Q326H 0.013 293 0.3% 236 32.6% 4 0% benign(0.01) tolerated(0.09) neutral(0.297) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SLC13A1 6561 genome.wustl.edu 37 7 122768954 122768954 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022444.3 -1 validated p.L360 0.974 132 0% 111 42.3% 0 - - - - HMMPfam_Na_sulph_symp GRM8 2918 genome.wustl.edu 37 7 126173080 126173080 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000845.2 -1 reviewed p.T786A 1.000 117 0% 91 35.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 CPA1 1357 genome.wustl.edu 37 7 130027804 130027804 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001868.2 +1 reviewed p.W404* 1.000 399 0% 279 40.1% 0 - - - - HMMPfam_Peptidase_M14,superfamily_SSF53187 AGK 55750 genome.wustl.edu 37 7 141296429 141296429 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018238.3 +1 validated p.A70V 1.000 228 0% 134 47% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DAGK_cat,HMMSmart_SM00046 ABCB8 11194 genome.wustl.edu 37 7 150733045 150733045 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007188.3 +1 reviewed p.R335Q 0.969 25 0% 30 33.3% 9 44.4% benign(0.112) tolerated(0.21) neutral(0.053) HMMPfam_ABC_membrane,superfamily_ABC_TM_1 MLL3 58508 genome.wustl.edu 37 7 152012314 152012314 + Missense_Mutation SNP G G C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_170606.2 -1 reviewed p.P167A 0.610 308 0% 209 39.2% 1 0% benign(0.391) - - NULL RBM33 155435 genome.wustl.edu 37 7 155538249 155538249 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_053043.2 +1 validated p.G978R 1.000 34 0% 30 43.3% 3 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL DLGAP2 9228 genome.wustl.edu 37 8 1626512 1626512 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004745.3 +1 reviewed p.S727 0.110 47 0% 41 56.1% 0 - - - - HMMPfam_GKAP DOCK5 80005 genome.wustl.edu 37 8 25258506 25258506 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024940.6 +1 validated p.P1617L 1.000 418 0% 413 54.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTK2B 2185 genome.wustl.edu 37 8 27308288 27308288 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004103.3 +1 reviewed p.S788N 1.000 38 0% 58 53.4% 1 0% benign(0.02) tolerated(0.54) neutral(0.009) NULL EPHX2 2053 genome.wustl.edu 37 8 27396187 27396187 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001979.4 +1 reviewed p.S418 0.000 152 0% 168 28% 2 0% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 CLVS1 157807 genome.wustl.edu 37 8 62289226 62289226 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_173519.2 +1 validated p.P173L 0.995 106 0% 146 52.7% 0 - benign(0.016) tolerated(0.07) neutral(0.320) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain SGK3 23678 genome.wustl.edu 37 8 67752322 67752322 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001033578.1 +1 reviewed p.Y276H 1.000 252 0% 274 49.3% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase JPH1 56704 genome.wustl.edu 37 8 75157400 75157400 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020647.2 -1 reviewed p.Y423 0.294 159 0% 179 31.8% 0 - - - - NULL DCAF4L2 138009 genome.wustl.edu 37 8 88885717 88885717 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152418.3 -1 validated p.A161 0.223 185 0% 152 40.8% 0 - - - - superfamily_WD40_like CCNE2 9134 genome.wustl.edu 37 8 95895030 95895030 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_057749.1 -1 reviewed p.E308K 0.999 91 0% 127 55.9% 1 100% possibly_damaging(0.577) deleterious(0.01) deleterious(0.604) HMMPfam_Cyclin_C EFR3A 23167 genome.wustl.edu 37 8 132991259 132991259 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015137.3 +1 validated p.G498W 0.957 271 0% 230 31.3% 3 66.6% possibly_damaging(0.861) tolerated(0.07) deleterious(0.652) NULL FAM135B 51059 genome.wustl.edu 37 8 139144953 139144953 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015912.3 -1 validated p.H1368 0.996 200 0% 194 35.6% 0 - - - - NULL PLEC 5339 genome.wustl.edu 37 8 144995815 144995815 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_201380.2 -1 reviewed p.T2862K 1.000 22 0% 18 33.3% 4 75% probably_damaging(1) - - HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat FRMPD1 22844 genome.wustl.edu 37 9 37745886 37745886 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014907.2 +1 validated p.S1286I 0.845 153 0% 135 57% 0 - benign(0.001) tolerated(0.06) neutral(0.323) NULL CNTNAP3 79937 genome.wustl.edu 37 9 39078395 39078396 + Frame_Shift_Del DEL AG AG - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_033655.3 -1 reviewed p.S1244fs 0.992:1.000 - - - - - - - - - NULL PCSK5 5125 genome.wustl.edu 37 9 78853912 78853912 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000376754 +1 known p.E671 0.991 11 0% 21 33.3% 0 - - - - HMMSmart_SM00261,superfamily_Growth factor receptor domain TGFBR1 7046 genome.wustl.edu 37 9 101910027 101910027 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004612.2 +1 reviewed p.K449N 1.000 161 0% 101 39.6% 4 0% probably_damaging(0.994) tolerated(0.29) deleterious(0.481) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ERP44 23071 genome.wustl.edu 37 9 102768897 102768897 + Nonsense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015051.1 -1 validated p.K303* 1.000 92 0% 115 46.1% 106 1.8% - - - NULL INVS 27130 genome.wustl.edu 37 9 103055198 103055198 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014425.2 +1 reviewed p.Q887* 1.000 152 0% 93 31.2% 5 40% - - - NULL ACTL7A 10881 genome.wustl.edu 37 9 111625546 111625546 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006687.2 +1 reviewed p.R315Q 0.999 142 0% 95 47.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain RGS3 5998 genome.wustl.edu 37 9 116346503 116346503 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_144488.4 +1 reviewed p.L937 1.000 40 0% 33 60.6% 12 75% - - - NULL AKNA 80709 genome.wustl.edu 37 9 117138988 117138988 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030767.4 -1 validated p.R367W 0.893 51 0% 34 26.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PAPPA 5069 genome.wustl.edu 37 9 118997754 118997754 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002581.3 +1 reviewed p.T857M 1.000 100 0% 84 47.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55486 OR1B1 347169 genome.wustl.edu 37 9 125391448 125391448 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004450.1 -1 provisional p.D123N 1.000 251 0.4% 202 38.1% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 GARNL3 84253 genome.wustl.edu 37 9 130151331 130151331 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032293.4 +1 validated p.T892 0.454 114 0% 78 41% 5 20% - - - NULL LRRC8A 56262 genome.wustl.edu 37 9 131670440 131670440 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001127244.1 +1 reviewed p.G333S 1.000 76 0% 54 51.9% 1 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL RXRA 6256 genome.wustl.edu 37 9 137326047 137326047 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002957.4 +1 reviewed p.P412Q 0.993 15 0.000 9 0.444 26 30.7% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain LOC100131193 100131193 genome.wustl.edu 37 9 139699111 139699111 + RNA SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NR_024580.1 -1 predicted NULL 0.003 22 0% 22 36.4% 1 100% - - - - ABCA2 20 genome.wustl.edu 37 9 139912048 139912048 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_212533.2 -1 reviewed p.A800T 1.000 4 0.000 6 0.667 0 - possibly_damaging(0.793) tolerated(0.06) deleterious(0.621) NULL TUBB8 347688 genome.wustl.edu 37 10 93256 93256 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_177987.2 -1 validated p.R359Q 1.000 231 0.4% 293 29.4% 8 25% benign(0.258) deleterious(0) deleterious(0.472) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C ZMYND11 10771 genome.wustl.edu 37 10 298377 298377 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006624.4 +1 reviewed p.A552 0.015 233 0% 263 28.5% 16 12.5% - - - HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 CCDC3 83643 genome.wustl.edu 37 10 13040504 13040504 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_031455.3 -1 validated p.E128G 1.000 96 0% 123 29.3% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ARMC3 219681 genome.wustl.edu 37 10 23287152 23287152 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_173081.3 +1 validated p.N417 0.995 87 0% 102 20.6% 0 - - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat KIAA1462 57608 genome.wustl.edu 37 10 30336625 30336625 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020848.2 -1 validated p.A39 0.000 69 0% 91 20.9% 0 - - - - NULL CUL2 8453 genome.wustl.edu 37 10 35343422 35343422 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003591.2 -1 provisional p.A121 0.997 153 0% 175 24.6% 0 - - - - HMMPfam_Cullin,superfamily_Cullin repeat SLC18A3 6572 genome.wustl.edu 37 10 50819136 50819136 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003055.2 +1 reviewed p.T117M 0.495 38 0% 71 28.2% 0 - benign(0.003) tolerated(0.26) neutral(0.034) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ANK3 288 genome.wustl.edu 37 10 61833451 61833453 + In_Frame_Del DEL TTC TTC - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020987.2 -1 reviewed p.E2396in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ARID5B 84159 genome.wustl.edu 37 10 63852248 63852248 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032199.2 +1 validated p.A1009G 0.876 130 0% 166 26.5% 3 33.3% possibly_damaging(0.885) deleterious(0) deleterious(0.790) NULL MYPN 84665 genome.wustl.edu 37 10 69933886 69933886 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032578.2 +1 validated p.N679K 0.068 253 0.4% 289 28% 0 - benign(0.059) tolerated(1) neutral(0.004) NULL PBLD 64081 genome.wustl.edu 37 10 70048415 70048415 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022129.3 -1 validated p.S172 0.951 107 0% 138 31.9% 1 0% - - - HMMPfam_PhzC-PhzF,superfamily_SSF54506 TET1 80312 genome.wustl.edu 37 10 70333770 70333770 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030625.2 +1 validated p.T559A 0.003 177 0% 189 37.6% 0 - benign(0.025) tolerated(0.78) neutral(0.002) NULL NODAL 4838 genome.wustl.edu 37 10 72195614 72195614 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018055.4 -1 reviewed p.G107C 0.000 79 0% 97 29.9% 2 0% benign(0.313) tolerated(0.05) neutral(0.443) NULL DDIT4 54541 genome.wustl.edu 37 10 74034519 74034519 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_019058.2 +1 validated p.H91R 1.000 60 0% 61 21.3% 79 34.1% benign(0.041) tolerated(0.69) neutral(0.005) NULL POLR3A 11128 genome.wustl.edu 37 10 79739977 79739977 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007055.3 -1 validated p.L1316 1.000 55 0% 85 27.1% 16 43.7% - - - HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 C10orf99 387695 genome.wustl.edu 37 10 85944484 85944484 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_207373.2 +1 validated p.R70C 0.000 116 0% 130 36.2% 0 - possibly_damaging(0.933) - - NULL PTEN 5728 genome.wustl.edu 37 10 89653829 89653829 + Nonsense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000371953 +1 known p.E43* 1.000 254 0% 255 57.3% 0 - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717683 89717684 + Frame_Shift_Ins INS - - A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000371953 +1 known p.F237fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 BTAF1 9044 genome.wustl.edu 37 10 93719751 93719751 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003972.2 +1 validated p.R368H 1.000 298 0% 331 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PLCE1 51196 genome.wustl.edu 37 10 96033395 96033395 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016341.3 +1 reviewed p.P1528H 1.000 137 0% 152 25.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases CRTAC1 55118 genome.wustl.edu 37 10 99677301 99677301 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018058.4 -1 validated p.A224V 0.868 42 0% 46 26.1% 1 100% benign(0.002) tolerated(0.48) neutral(0.011) superfamily_Integrin alpha N-terminal domain PDCD11 22984 genome.wustl.edu 37 10 105176299 105176299 + Missense_Mutation SNP A A C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014976.1 +1 validated p.T524P 1.000 275 0% 286 26.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Nucleic_acid_OB ENSG00000246977 0 genome.wustl.edu 37 10 106074044 106074044 + RNA SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000499336 +1 novel NULL 0.006 44 0% 50 26% 1 100% - - - - EIF3A 8661 genome.wustl.edu 37 10 120795673 120795673 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003750.2 -1 validated p.R1343* 0.988 53 0% 75 28% 30 36.6% - - - NULL DMBT1 1755 genome.wustl.edu 37 10 124345885 124345885 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007329.2 +1 reviewed p.G590D 0.226 161 0% 169 57.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like OAT 4942 genome.wustl.edu 37 10 126086581 126086581 + Missense_Mutation SNP G G T rs121965044 TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000274.3 -1 reviewed p.P417Q 1.000 115 0% 165 27.3% 26 23% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PyrdxlP-dep_Trfase_major C10orf137 26098 genome.wustl.edu 37 10 127442264 127442264 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015608.2 +1 validated p.P1098L 0.026 282 0% 328 23.8% 4 50% benign(0.001) tolerated(0.27) neutral(0.034) NULL DOCK1 1793 genome.wustl.edu 37 10 129202618 129202618 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000398025 +1 known p.I1394 1.000 19 0% 34 20.6% 1 0% - - - NULL AP2A2 161 genome.wustl.edu 37 11 970267 970267 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012305.2 +1 validated p.A79T 1.000 55 0% 39 46.2% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_Adaptin_N,superfamily_ARM repeat NAP1L4 4676 genome.wustl.edu 37 11 2975808 2975808 + Silent SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005969.3 -1 reviewed p.V328 0.948 134 0% 108 40.7% 49 44.8% - - - HMMPfam_NAP OR51B6 390058 genome.wustl.edu 37 11 5373540 5373540 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004750.1 +1 provisional p.H268R 0.004 379 0% 262 37.8% 0 - benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_7tm_1,superfamily_SSF81321 OR52N5 390075 genome.wustl.edu 37 11 5799486 5799486 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001001922.2 -1 validated p.M127V 1.000 336 0% 260 44.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR2AG2 338755 genome.wustl.edu 37 11 6789985 6789986 + Frame_Shift_Del DEL GA GA - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004490.1 -1 provisional p.L68fs 0.006:0.023 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 ST5 6764 genome.wustl.edu 37 11 8737161 8737161 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005418.3 -1 reviewed p.R612C 1.000 28 0% 37 35.1% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DENND5A 23258 genome.wustl.edu 37 11 9202353 9202353 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015213.2 -1 validated p.L472 0.925 311 0% 275 45.1% 2 0% - - - NULL ARNTL 406 genome.wustl.edu 37 11 13407264 13407264 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001030272.1 +1 reviewed p.P548H 1.000 143 0% 171 46.2% 1 100% benign(0.131) deleterious(0) neutral(0.456) NULL PDE3B 5140 genome.wustl.edu 37 11 14839801 14839801 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000922.3 +1 validated p.R532Q 1.000 130 0% 96 40.6% 0 - benign(0.038) tolerated(0.07) neutral(0.321) NULL TRIM48 79097 genome.wustl.edu 37 11 55038010 55038010 + Silent SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000357530 +1 known p.P242 0.001 115 0% 81 35.8% 0 - - - - NULL OR5T2 219464 genome.wustl.edu 37 11 56000159 56000159 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004746.1 -1 provisional p.P168H 1.000 537 0% 386 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 APLNR 187 genome.wustl.edu 37 11 57003536 57003536 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005161.4 -1 reviewed p.R315C 1.000 66 0% 44 40.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 OSBP 5007 genome.wustl.edu 37 11 59345683 59345683 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002556.2 -1 reviewed p.R667* 1.000 323 0% 257 27.2% 3 33.3% - - - HMMPfam_Oxysterol_BP MS4A6A 64231 genome.wustl.edu 37 11 59947360 59947360 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152852.1 -1 reviewed p.T76A 0.075 159 0% 158 39.2% 0 - possibly_damaging(0.608) tolerated(0.09) deleterious(0.507) HMMPfam_CD20 SLC15A3 51296 genome.wustl.edu 37 11 60714276 60714276 + Silent SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016582.2 -1 validated p.R192 0.898 40 0% 35 48.6% 0 - - - - HMMPfam_PTR2,superfamily_MFS general substrate transporter NRXN2 9379 genome.wustl.edu 37 11 64390261 64390261 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015080.2 -1 reviewed p.R1379 1.000 41 0% 46 41.3% 1 0% - - - NULL EFEMP2 30008 genome.wustl.edu 37 11 65637375 65637375 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016938.3 -1 reviewed p.R227L 1.000 19 0% 23 39.1% 146 34.2% probably_damaging(0.98) tolerated(0.26) neutral(0.458) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 ALDH3B2 222 genome.wustl.edu 37 11 67433852 67433852 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000695.3 -1 reviewed p.P58S 1.000 39 0% 30 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like PPP6R3 55291 genome.wustl.edu 37 11 68341578 68341578 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018312.4 +1 validated p.A398T 1.000 88 0% 72 41.7% 1 0% benign(0.003) tolerated(0.41) neutral(0.015) HMMPfam_SAPS CCDC83 220047 genome.wustl.edu 37 11 85597249 85597249 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_173556.3 +1 provisional p.R117H 0.985 71 0% 42 38.1% 0 - benign(0.029) tolerated(0.24) neutral(0.039) NULL GRM5 2915 genome.wustl.edu 37 11 88780442 88780442 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001143831.2 -1 reviewed p.R200M 0.805 143 0% 104 37.5% 0 - benign(0.156) deleterious(0.03) neutral(0.379) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I SIK2 23235 genome.wustl.edu 37 11 111594777 111594777 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015191.1 +1 validated p.E902G 0.998 23 0% 27 22.2% 2 100% benign(0.029) deleterious(0) neutral(0.446) NULL BUD13 84811 genome.wustl.edu 37 11 116633494 116633494 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032725.3 -1 validated p.S271P 0.967 383 0.3% 319 38.9% 4 0% probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL TECTA 7007 genome.wustl.edu 37 11 121000393 121000393 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005422.2 +1 reviewed p.K805R 0.276 187 0% 212 45.3% 0 - benign(0.008) tolerated(1) - HMMPfam_VWD,HMMSmart_SM00216 CLMP 79827 genome.wustl.edu 37 11 122944335 122944335 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024769.2 -1 validated p.A323 0.140 53 0% 53 35.8% 0 - - - - NULL OR10G4 390264 genome.wustl.edu 37 11 123886579 123886579 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004462.1 +1 provisional p.L100V 1.000 483 0% 356 38.2% 0 - possibly_damaging(0.77) tolerated(0.15) deleterious(0.527) HMMPfam_7tm_1,superfamily_SSF81321 STT3A 3703 genome.wustl.edu 37 11 125488318 125488318 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152713.3 +1 validated p.G609S 1.000 116 0% 94 37.2% 195 52.8% probably_damaging(0.985) tolerated(0.89) neutral(0.432) HMMPfam_STT3 FOXRED1 55572 genome.wustl.edu 37 11 126145272 126145272 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017547.2 +1 provisional p.R228W 0.997 15 0% 13 30.8% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain NCAPD3 23310 genome.wustl.edu 37 11 134055332 134055332 + Missense_Mutation SNP G G A rs143833204 by1000genomes TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015261.2 -1 validated p.T712M 0.931 111 0% 98 33.7% 0 - benign(0.013) tolerated(0.09) neutral(0.297) superfamily_ARM-type_fold LRRC23 10233 genome.wustl.edu 37 12 7022149 7022149 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001135217.1 +1 validated p.P338 0.000 114 0% 106 41.5% 27 51.8% - - - NULL TAS2R8 50836 genome.wustl.edu 37 12 10958911 10958911 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_023918.1 -1 reviewed p.R223 0.103 214 0% 160 43.1% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 WBP11 51729 genome.wustl.edu 37 12 14943518 14943518 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016312.2 -1 reviewed p.P394L 1.000 149 0% 126 40.5% 25 72% unknown(0) deleterious(0.04) - NULL KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_033360.2 -1 reviewed p.G12D 1.000 52 0% 51 31.4% 3 100% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF21A 55605 genome.wustl.edu 37 12 39724563 39724563 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017641.3 -1 validated p.G1089C 1.000 170 0% 126 45.2% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) superfamily_Prefoldin,superfamily_WD40 repeat-like NELL2 4753 genome.wustl.edu 37 12 44915955 44915955 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001145107.1 -1 reviewed p.G718E 1.000 138 0% 113 39.8% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWC,HMMSmart_VWC,PatternScan_EGF_2 ADCY6 112 genome.wustl.edu 37 12 49169126 49169126 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015270.3 -1 reviewed p.R647Q 1.000 60 1.7% 58 41.4% 0 - possibly_damaging(0.754) tolerated(0.27) neutral(0.311) HMMPfam_DUF1053 MLL2 8085 genome.wustl.edu 37 12 49441824 49441824 + Missense_Mutation SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003482.3 -1 validated p.G1387A 1.000 44 0% 21 19% 0 - unknown(0) - - HMMSmart_SM00184,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD KRT83 3889 genome.wustl.edu 37 12 52711520 52711520 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002282.3 -1 reviewed p.A232V 1.000 263 0% 213 40.8% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_Filament KRT85 3891 genome.wustl.edu 37 12 52760986 52760986 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002283.3 -1 reviewed p.V68 0.001 85 0% 62 35.5% 0 - - - - NULL KRT4 3851 genome.wustl.edu 37 12 53204577 53204577 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002272.2 -1 reviewed p.R308H 0.909 63 0% 64 20.3% 0 - possibly_damaging(0.905) deleterious(0.05) deleterious(0.705) HMMPfam_Filament KRT8 3856 genome.wustl.edu 37 12 53294418 53294418 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002273.3 -1 reviewed p.E215V 1.000 80 0% 43 51.2% 600 44.6% possibly_damaging(0.439) deleterious(0) deleterious(0.588) superfamily_Prefoldin,HMMPfam_Filament ZNF385A 25946 genome.wustl.edu 37 12 54769642 54769642 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001130967.1 -1 validated p.R82C 1.000 40 0% 39 30.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZBTB39 9880 genome.wustl.edu 37 12 57396904 57396904 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014830.1 -1 provisional p.P600T 0.141 70 0% 47 44.7% 0 - benign(0.001) tolerated(1) - NULL KIF5A 3798 genome.wustl.edu 37 12 57963868 57963868 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004984.2 +1 reviewed p.V406M 1.000 23 0% 18 38.9% 0 - possibly_damaging(0.822) tolerated(0.27) neutral(0.345) NULL SRGAP1 57522 genome.wustl.edu 37 12 64474113 64474113 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020762.2 +1 validated p.Q457 1.000 134 0% 89 38.2% 0 - - - - NULL TMBIM4 51643 genome.wustl.edu 37 12 66546086 66546086 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016056.2 -1 validated p.K93E 1.000 164 0% 168 19.6% 25 24% benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_UPF0005 NUP107 57122 genome.wustl.edu 37 12 69128518 69128518 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020401.2 +1 reviewed p.K765E 1.000 133 0% 85 28.2% 56 21.4% benign(0.002) tolerated(0.55) neutral(0.007) HMMPfam_Nup84_Nup100 HAL 3034 genome.wustl.edu 37 12 96384268 96384268 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002108.2 -1 reviewed p.A253V 1.000 219 0% 165 44.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PAL,PatternScan_PAL_HISTIDASE,superfamily_L-Aspartase-like TXNRD1 7296 genome.wustl.edu 37 12 104720179 104720179 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000429002 +1 known p.V459I 0.975 21 0% 27 37% 2 50% benign(0.001) tolerated(0.41) neutral(0.015) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain IQCD 115811 genome.wustl.edu 37 12 113633535 113633535 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_138451.1 -1 provisional p.R297C 1.000 82 0% 78 35.9% 26 61.5% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMSmart_IQ GCN1L1 10985 genome.wustl.edu 37 12 120572359 120572359 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006836.1 -1 validated p.A2394T 0.250 37 0% 25 44% 11 18.1% benign(0) tolerated(1) - NULL COQ5 84274 genome.wustl.edu 37 12 120954447 120954447 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032314.3 -1 validated p.R166H 0.015 349 0% 275 47.3% 8 50% benign(0.002) tolerated(1) - HMMPfam_Ubie_methyltran,superfamily_S-adenosyl-L-methionine-dependent methyltransferases MPHOSPH9 10198 genome.wustl.edu 37 12 123649857 123649857 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022782.2 -1 validated p.T768N 0.063 250 0% 247 41.3% 0 - benign(0.076) deleterious(0.03) neutral(0.370) NULL IFT88 8100 genome.wustl.edu 37 13 21212594 21212594 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_175605.3 +1 reviewed p.A513T 1.000 240 0.4% 255 41.2% 4 75% benign(0.037) tolerated(0.25) neutral(0.039) HMMPfam_TPR_1,HMMSmart_SM00671,HMMSmart_SM00028,superfamily_TPR-like LOC122038 122038 genome.wustl.edu 37 13 33528272 33528274 + RNA DEL GCT GCT - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 XR_040920.1 -1 model NULL 0.987:0.990:1.000 - - - - - - - - - - RFC3 5983 genome.wustl.edu 37 13 34404107 34404134 + Frame_Shift_Del DEL CGTAGTAGGTGCTTGGCGGTTCGTGTGC CGTAGTAGGTGCTTGGCGGTTCGTGTGC - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 CGTAGTAGGTGCTTGGCGGTTCGTGTGC CGTAGTAGGTGCTTGGCGGTTCGTGTGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002915.3 +1 reviewed p.R176fs 1.000:1.000:0.967:1.000:1.000:0.942:0.953:1.000:0.989:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:0.991:0.995:0.875:1.000:1.000:0.880:1.000:1.000:0.993:1.000 - - - - - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP11 11215 genome.wustl.edu 37 13 42876961 42876961 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016248.2 +1 reviewed p.S1360N 0.009 177 0% 128 43% 0 - benign(0.15) tolerated(1) neutral(0.013) NULL TSC22D1 8848 genome.wustl.edu 37 13 45148708 45148708 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_183422.2 -1 validated p.Q501 0.000 89 0% 51 47.1% 3 66.6% - - - NULL ZC3H13 23091 genome.wustl.edu 37 13 46553969 46553969 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015070.3 -1 validated p.R631C 1.000 294 0% 194 41.2% 35 48.5% unknown(0) deleterious(0) - NULL NEK5 341676 genome.wustl.edu 37 13 52676102 52676102 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_199289.1 -1 provisional p.P287S 0.000 161 0% 115 31.3% 0 - benign(0) tolerated(0.4) neutral(0.016) superfamily_Kinase_like MCF2L 23263 genome.wustl.edu 37 13 113739263 113739263 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001112732.1 +1 validated p.L764M 1.000 35 0% 31 32.3% 8 0% possibly_damaging(0.789) deleterious(0.01) deleterious(0.702) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TMCO3 55002 genome.wustl.edu 37 13 114149930 114149930 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017905.4 +1 validated p.L12 0.100 32 0% 40 37.5% 1 100% - - - NULL SALL2 6297 genome.wustl.edu 37 14 21992835 21992835 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005407.1 -1 validated p.A343T 0.961 51 0% 43 48.8% 1 0% benign(0.005) tolerated(0.46) neutral(0.012) NULL LRRC16B 90668 genome.wustl.edu 37 14 24529364 24529364 + Splice_Site SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_138360.3 +1 validated e24-2 1.000 31 0% 23 47.8% 0 - - - - - C14orf21 161424 genome.wustl.edu 37 14 24769849 24769850 + In_Frame_Ins INS - - GAG novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_174913.1 +1 provisional p.165in_frame_insE 0.000:0.015 - - - - - - - - - superfamily_ARM-type_fold GZMH 2999 genome.wustl.edu 37 14 25077580 25077580 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_033423.3 -1 provisional p.R32C 0.013 263 0% 217 51.2% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys STXBP6 29091 genome.wustl.edu 37 14 25443991 25443991 + Missense_Mutation SNP A A T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014178.6 -1 provisional p.F12I 1.000 36 0% 21 52.4% 45 51.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL28 54813 genome.wustl.edu 37 14 45403630 45403630 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017658.3 -1 validated p.R344H 1.000 208 0% 150 38% 0 - possibly_damaging(0.95) tolerated(0.37) neutral(0.413) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHDC2 23588 genome.wustl.edu 37 14 50246335 50246335 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014315.2 +1 validated p.A219V 1.000 99 0% 59 33.9% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 ARF6 382 genome.wustl.edu 37 14 50360872 50360872 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001663.3 +1 reviewed p.G140C 1.000 63 0% 38 47.4% 57 49.1% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM9 114088 genome.wustl.edu 37 14 51561076 51561076 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015163.5 -1 reviewed p.R194 1.000 28 0% 30 33.3% 1 0% - - - HMMSmart_SM00336 KIAA0586 9786 genome.wustl.edu 37 14 58953762 58953762 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014749.3 +1 validated p.T985M 1.000 113 0% 115 46.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VTI1B 10490 genome.wustl.edu 37 14 68126450 68126450 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006370.2 -1 validated p.M122V 0.802 81 0% 79 40.5% 90 43.3% benign(0) tolerated(0.76) neutral(0.001) HMMPfam_V-SNARE ESRRB 2103 genome.wustl.edu 37 14 76964698 76964698 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004452.3 +1 reviewed p.R400Q 1.000 17 0% 19 57.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor ADCK1 57143 genome.wustl.edu 37 14 78392234 78392234 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020421.3 +1 validated p.C379Y 1.000 218 0% 176 23.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EML5 161436 genome.wustl.edu 37 14 89083152 89083152 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_183387.2 -1 validated p.V1905A 0.999 155 0% 120 35.8% 0 - probably_damaging(0.997) tolerated(0.11) deleterious(0.738) HMMSmart_SM00320,superfamily_WD40 repeat-like BAG5 9529 genome.wustl.edu 37 14 104026273 104026273 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001015049.1 -1 reviewed p.D451G 1.000 102 0% 69 37.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain HERC2 8924 genome.wustl.edu 37 15 28506000 28506000 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004667.4 -1 reviewed p.V747M 0.982 88 0% 86 40.7% 1 0% benign(0.004) tolerated(0.22) neutral(0.042) superfamily_RCC1/BLIP-II ZNF770 54989 genome.wustl.edu 37 15 35275052 35275052 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014106.2 -1 validated p.K195I 1.000 104 0% 65 44.6% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MGA 23269 genome.wustl.edu 37 15 42003323 42003323 + Frame_Shift_Del DEL T T - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001080541.2 +1 validated p.F954fs 0.080 - - - - - - - - - NULL GANC 2595 genome.wustl.edu 37 15 42602661 42602661 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_198141.2 +1 reviewed p.E301D 0.991 116 0% 107 43.9% 0 - benign(0.001) tolerated(0.24) neutral(0.037) NULL FAM214A 56204 genome.wustl.edu 37 15 52902259 52902259 + Missense_Mutation SNP T T G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_019600.2 -1 validated p.K284N 0.048 77 0% 57 38.6% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL FAM63B 54629 genome.wustl.edu 37 15 59064436 59064436 + Splice_Site SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001040450.1 +1 validated e1+2 1.000 88 0% 57 28.1% 1 100% - - - - HERC1 8925 genome.wustl.edu 37 15 63986651 63986651 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003922.3 -1 reviewed p.N1780 0.928 197 0% 139 43.2% 0 - - - - NULL CYP1A1 1543 genome.wustl.edu 37 15 75014822 75014822 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000499.3 -1 reviewed p.R206H 1.000 74 0% 69 34.8% 0 - benign(0.022) tolerated(0.09) neutral(0.297) HMMPfam_p450,superfamily_Cytochrome P450 ETFA 2108 genome.wustl.edu 37 15 76577985 76577985 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000126.3 -1 reviewed p.V219 0.973 238 0% 233 49.4% 25 32% - - - HMMPfam_ETF_alpha,superfamily_DHS-like NAD/FAD-binding domain CHRNA3 1136 genome.wustl.edu 37 15 78894498 78894498 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000743.4 -1 reviewed p.D162 0.997 191 0% 135 37% 2 50% - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL MTHFS 10588 genome.wustl.edu 37 15 80137600 80137600 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006441.2 -1 validated p.N188 0.012 289 0% 221 40.7% 101 42.5% - - - HMMPfam_5-FTHF_cyc-lig,superfamily_SSF100950 MAN2A2 4122 genome.wustl.edu 37 15 91455333 91455333 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006122.2 +1 validated p.L724M 0.995 24 0% 34 47.1% 0 - benign(0.007) tolerated(0.13) neutral(0.253) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C UNC45A 55898 genome.wustl.edu 37 15 91479620 91479620 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018671.3 +1 validated p.V119A 1.000 19 0% 21 47.6% 0 - benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like IGF1R 3480 genome.wustl.edu 37 15 99442775 99442775 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000875.3 +1 reviewed p.R391H 1.000 111 0% 99 40.4% 0 - possibly_damaging(0.762) tolerated(0.07) deleterious(0.601) HMMPfam_Recep_L_domain,superfamily_SSF52058 IGF1R 3480 genome.wustl.edu 37 15 99500563 99500563 + Silent SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000875.3 +1 reviewed p.G1332 0.042 38 0% 23 17.4% 13 53.8% - - - NULL ADAMTS17 170691 genome.wustl.edu 37 15 100649240 100649240 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_139057.2 -1 reviewed p.P657H 1.000 35 0% 28 32.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL LUC7L 55692 genome.wustl.edu 37 16 249138 249138 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_201412.1 -1 validated p.R204S 1.000 95 0% 72 27.8% 189 38.6% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_LUC7 DECR2 26063 genome.wustl.edu 37 16 456360 456360 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020664.3 +1 validated p.T55M 0.990 12 0% 10 40% 7 71.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains TBC1D24 57465 genome.wustl.edu 37 16 2546986 2546986 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020705.1 +1 provisional p.T279 0.000 36 0% 42 33.3% 1 0% - - - superfamily_RabGAP_TBC ZSCAN10 84891 genome.wustl.edu 37 16 3142551 3142551 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032805.1 -1 provisional p.G75W 0.845 9 0.000 11 0.727 0 - probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_SCAN,HMMSmart_SCAN SLX4 84464 genome.wustl.edu 37 16 3647844 3647844 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032444.2 -1 provisional p.A440 0.000 30 0% 24 41.7% 0 - - - - NULL UBN1 29855 genome.wustl.edu 37 16 4903005 4903005 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001079514.1 +1 validated p.A29 0.039 54 0% 65 47.7% 0 - - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15733069 15733069 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014647.3 -1 validated p.E8K 1.000 317 0% 227 42.7% 3 100% possibly_damaging(0.615) tolerated(0.07) deleterious(0.532) NULL NOMO2 283820 genome.wustl.edu 37 16 18549884 18549884 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004060.1 -1 reviewed p.P395L 1.000 477 0% 307 35.8% 1 0% probably_damaging(0.999) tolerated(1) deleterious(0.490) superfamily_Starch-binding domain-like TMC5 79838 genome.wustl.edu 37 16 19498568 19498568 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001105248.1 +1 validated p.Q831H 1.000 142 0% 127 45.7% 3 66.6% possibly_damaging(0.815) tolerated(0.52) neutral(0.316) NULL ERI2 112479 genome.wustl.edu 37 16 20812683 20812683 + Splice_Site SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001142725.1 -1 validated e5-2 0.990 169 0% 141 36.9% 0 - - - - - ANKS4B 257629 genome.wustl.edu 37 16 21245068 21245068 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_145865.2 +1 validated p.R4C 1.000 258 0% 215 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat GTF3C1 2975 genome.wustl.edu 37 16 27497391 27497391 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001520.3 -1 validated p.R1262H 0.999 180 0% 158 38% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF267 10308 genome.wustl.edu 37 16 31926579 31926579 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003414.4 +1 validated p.L337I 0.362 402 0% 259 47.9% 0 - benign(0.353) deleterious(0.01) deleterious(0.517) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CES1 1066 genome.wustl.edu 37 16 55855389 55855389 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001025195.1 -1 reviewed p.Q195R 1.000 55 0% 52 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_SSF53474 KIFC3 3801 genome.wustl.edu 37 16 57803524 57803524 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005550.3 -1 validated p.R401G 0.004 10 0% 12 41.7% 4 50% benign(0.001) tolerated(0.46) neutral(0.012) superfamily_P-loop containing nucleoside triphosphate hydrolases NAE1 8883 genome.wustl.edu 37 16 66850556 66850556 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003905.3 -1 reviewed p.N256 1.000 98 0% 96 30.2% 10 60% - - - superfamily_Activating enzymes of the ubiquitin-like proteins KIAA0895L 653319 genome.wustl.edu 37 16 67210794 67210794 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001040715.1 -1 validated p.R446C 0.918 215 0% 203 40.9% 68 48.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KIAA0895L 653319 genome.wustl.edu 37 16 67213752 67213752 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001040715.1 -1 validated p.R227H 1.000 116 0% 95 42.1% 6 16.6% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) NULL GFOD2 81577 genome.wustl.edu 37 16 67709514 67709515 + Frame_Shift_Del DEL AC AC - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030819.3 -1 validated p.C234fs 0.992:1.000 - - - - - - - - - HMMPfam_GFO_IDH_MocA_C,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain PSMB10 5699 genome.wustl.edu 37 16 67968568 67968568 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002801.2 -1 reviewed p.G239 0.000 145 0% 106 40.6% 684 40.6% - - - superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) SMPD3 55512 genome.wustl.edu 37 16 68405139 68405139 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018667.3 -1 validated p.E316K 0.959 17 0% 20 30% 0 - benign(0.237) tolerated(0.79) neutral(0.025) NULL ZFHX3 463 genome.wustl.edu 37 16 72828912 72828913 + Frame_Shift_Del DEL GC GC - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 GC GC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006885.3 -1 reviewed p.Q2557fs 1.000:0.725 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers GLG1 2734 genome.wustl.edu 37 16 74486002 74486002 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012201.5 -1 validated p.A1188 0.000 46 0% 41 43.9% 655 43.3% - - - NULL CHST5 23563 genome.wustl.edu 37 16 75563999 75563999 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024533.3 -1 validated p.A95V 0.914 29 0% 20 40% 0 - probably_damaging(0.993) tolerated(0.33) deleterious(0.474) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CDH13 1012 genome.wustl.edu 37 16 83711856 83711856 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001257.3 +1 reviewed p.K443R 1.000 49 0% 50 42% 0 - probably_damaging(0.998) tolerated(0.39) deleterious(0.490) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin RNMTL1 55178 genome.wustl.edu 37 17 686504 686504 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018146.2 +1 provisional p.I166V 1.000 90 0% 51 35.3% 5 60% benign(0.015) deleterious(0) neutral(0.445) HMMPfam_SpoU_sub_bind,superfamily_SSF55315 NLRP1 22861 genome.wustl.edu 37 17 5445178 5445178 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_033004.3 -1 reviewed p.Q900* 0.002 118 0% 101 41.6% 3 66.6% - - - HMMSmart_SM00368,superfamily_RNI-like DNAH2 146754 genome.wustl.edu 37 17 7681677 7681677 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020877.2 +1 validated p.E1811K 1.000 66 0% 69 53.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGEF15 22899 genome.wustl.edu 37 17 8215628 8215628 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_173728.2 +1 reviewed p.P91S 0.981 108 0% 97 38.1% 0 - possibly_damaging(0.771) deleterious(0) deleterious(0.731) NULL MYH8 4626 genome.wustl.edu 37 17 10315784 10315784 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002472.2 -1 reviewed p.L440P 1.000 615 0% 448 42.4% 0 - probably_damaging(0.991) tolerated(0.27) deleterious(0.478) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MAP2K4 6416 genome.wustl.edu 37 17 12044469 12044469 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003010.2 +1 reviewed p.H364 1.000 144 0% 122 49.2% 2 50% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYOCD 93649 genome.wustl.edu 37 17 12639554 12639554 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_153604.2 +1 reviewed p.P164 0.901 308 0% 284 45.1% 0 - - - - NULL MPRIP 23164 genome.wustl.edu 37 17 17083923 17083923 + Silent SNP C C G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000414263 +1 known p.P1082R 1.000 113 0% 85 34.1% 32 9.3% - - - NULL SPAG5 10615 genome.wustl.edu 37 17 26919200 26919200 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006461.3 -1 reviewed p.V354 0.976 103 0% 86 39.5% 8 37.5% - - - NULL TRAF4 9618 genome.wustl.edu 37 17 27076536 27076536 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004295.3 +1 reviewed p.R452W 1.000 28 0% 20 60% 277 59.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MATH,superfamily_TRAF domain-like ENSG00000226049 0 genome.wustl.edu 37 17 32364804 32364804 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000430493 -1 known p.R639* 0.997 129 0% 100 40% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TMEM132E 124842 genome.wustl.edu 37 17 32964757 32964757 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_207313.1 +1 provisional p.V821I 0.722 18 0% 22 40.9% 0 - probably_damaging(0.987) tolerated(0.13) deleterious(0.689) NULL LIG3 3980 genome.wustl.edu 37 17 33328351 33328351 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_013975.2 +1 reviewed p.R803* 1.000 77 0% 60 36.7% 18 22.2% - - - NULL RAD51D 5892 genome.wustl.edu 37 17 33445607 33445607 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002878.3 -1 reviewed p.A59D 1.000 61 0% 48 50% 1 0% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_HhH-GPD GAS2L2 246176 genome.wustl.edu 37 17 34073153 34073153 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_139285.2 -1 validated p.P455S 0.212 53 0% 40 45% 0 - benign(0.013) tolerated(0.6) neutral(0.005) NULL C17orf98 388381 genome.wustl.edu 37 17 36997552 36997552 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001080465.2 -1 validated p.R31C 0.000 53 0% 48 35.4% 0 - possibly_damaging(0.921) deleterious(0.01) deleterious(0.776) NULL TOP2A 7153 genome.wustl.edu 37 17 38555153 38555153 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001067.2 -1 reviewed p.E1109K 0.999 129 0.8% 91 48.4% 4 50% benign(0.003) tolerated(0.27) neutral(0.034) HMMPfam_DNA_topoisoIV,HMMSmart_SM00434,superfamily_Type II DNA topoisomerase KRTAP9-9 81870 genome.wustl.edu 37 17 39411768 39411768 + Splice_Site SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000431129 +1 known e2-2 0.201 398 0% 296 47.3% 0 - - - - - KRT19 3880 genome.wustl.edu 37 17 39680132 39680132 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002276.4 -1 reviewed p.S356G 0.825 42 0% 26 34.6% 4978 48.4% benign(0.025) deleterious(0) neutral(0.446) HMMPfam_Filament STAT3 6774 genome.wustl.edu 37 17 40485756 40485756 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_139276.2 -1 reviewed p.C328 1.000 35 0% 36 25% 4 50% - - - superfamily_p53-like transcription factors,HMMPfam_STAT_bind KANSL1 284058 genome.wustl.edu 37 17 44144966 44144966 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015443.2 -1 validated p.L534P 0.940 179 0% 138 36.2% 1 0% possibly_damaging(0.852) tolerated(0.19) neutral(0.377) NULL XYLT2 64132 genome.wustl.edu 37 17 48434462 48434462 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022167.2 +1 reviewed p.Y597C 1.000 30 0% 25 48% 5 60% probably_damaging(0.993) tolerated(0.07) deleterious(0.769) NULL CACNA1G 8913 genome.wustl.edu 37 17 48667850 48667850 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_018896.3 +1 validated p.A774T 1.000 155 0% 99 32.3% 0 - probably_damaging(0.977) tolerated(0.27) neutral(0.453) superfamily_Voltage-gated potassium channels MPO 4353 genome.wustl.edu 37 17 56356957 56356957 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000250.1 -1 reviewed p.A159T 0.998 19 0% 23 47.8% 0 - benign(0.027) tolerated(0.62) neutral(0.005) NULL BZRAP1 9256 genome.wustl.edu 37 17 56385265 56385265 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004758.2 -1 validated p.S1590Y 0.663 15 0% 10 40% 18 11.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BRIP1 83990 genome.wustl.edu 37 17 59885948 59885948 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032043.1 -1 reviewed p.T266 0.994 201 0% 172 46.5% 0 - - - - HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HELZ 9931 genome.wustl.edu 37 17 65103751 65103751 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014877.3 -1 validated p.R1592Q 1.000 239 0% 199 43.7% 0 - unknown(0) deleterious(0.02) - NULL ABCA10 10349 genome.wustl.edu 37 17 67150143 67150143 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_080282.3 -1 reviewed p.L1265S 0.007 212 0% 176 11.9% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SDK2 54549 genome.wustl.edu 37 17 71364671 71364671 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001144952.1 -1 provisional p.A1681V 1.000 12 0% 19 31.6% 0 - benign(0.004) tolerated(0.07) neutral(0.319) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SLC16A5 9121 genome.wustl.edu 37 17 73096323 73096323 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004695.2 +1 provisional p.I189V 0.959 47 0% 53 37.7% 6 83.3% benign(0) deleterious(0) neutral(0.445) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter RNF213 57674 genome.wustl.edu 37 17 78360648 78360648 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000508628 +1 known p.I4960T 0.192 19 0% 30 33.3% 4 0% benign(0.315) deleterious(0.02) deleterious(0.482) NULL FASN 2194 genome.wustl.edu 37 17 80041083 80041083 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004104.4 -1 reviewed p.V1854L 0.022 8 0.000 11 0.455 20 50% benign(0) tolerated(0.55) neutral(0.007) NULL THOC1 9984 genome.wustl.edu 37 18 216591 216591 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005131.2 -1 validated p.L499 0.044 287 0% 231 42.9% 49 55.1% - - - NULL LOC646359 646359 genome.wustl.edu 37 18 14378440 14378440 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 XM_929288.3 -1 model p.T108M 0.012 112 0% 90 42.2% 0 - - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain C18orf8 29919 genome.wustl.edu 37 18 21099098 21099098 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_013326.3 +1 validated p.V270A 1.000 96 1% 70 47.1% 2 50% possibly_damaging(0.938) deleterious(0.03) deleterious(0.748) NULL LAMA3 3909 genome.wustl.edu 37 18 21396448 21396448 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_198129.1 +1 reviewed p.Q715R 1.000 26 0% 32 34.4% 0 - benign(0.006) tolerated(0.51) neutral(0.009) HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin ZNF521 25925 genome.wustl.edu 37 18 22804943 22804943 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015461.2 -1 validated p.T980M 1.000 233 0% 183 44.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DSC1 1823 genome.wustl.edu 37 18 28714669 28714669 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_024421.2 -1 reviewed p.V581A 0.652 75 0% 39 46.2% 0 - benign(0.041) tolerated(0.6) neutral(0.007) HMMPfam_Cadherin,superfamily_Cadherin-like B4GALT6 9331 genome.wustl.edu 37 18 29210978 29210978 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004775.3 -1 reviewed p.Y240 0.340 309 0% 239 38.1% 0 - - - - HMMPfam_Galactosyl_T_2,superfamily_SSF53448 DCC 1630 genome.wustl.edu 37 18 50683792 50683792 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005215.3 +1 reviewed p.R443Q 1.000 344 0% 329 41% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MC4R 4160 genome.wustl.edu 37 18 58038893 58038893 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005912.2 -1 reviewed p.P230 0.001 185 0% 132 42.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ADNP2 22850 genome.wustl.edu 37 18 77896075 77896075 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014913.3 +1 validated p.T927A 1.000 77 0% 68 30.9% 5 20% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL KDM4B 23030 genome.wustl.edu 37 19 5033005 5033005 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015015.2 +1 validated p.I35K 1.000 59 0% 52 44.2% 0 - benign(0.293) deleterious(0) deleterious(0.535) HMMPfam_JmjN,HMMSmart_SM00545 XAB2 56949 genome.wustl.edu 37 19 7686072 7686072 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020196.2 -1 validated p.R577W 0.933 10 0% 10 50% 64 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_HAT,superfamily_SSF48452 C19orf59 199675 genome.wustl.edu 37 19 7742554 7742554 + Silent SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_174918.2 +1 reviewed p.T42 1.000 88 0% 78 37.2% 0 - - - - NULL TYK2 7297 genome.wustl.edu 37 19 10476448 10476448 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003331.4 -1 reviewed p.Q252 0.033 15 0% 10 70% 2 50% - - - HMMSmart_B41 ZNF20 7568 genome.wustl.edu 37 19 12244737 12244737 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_021143.2 -1 validated p.Q88 0.000 430 0% 301 43.9% 1 100% - - - NULL ZNF563 147837 genome.wustl.edu 37 19 12433415 12433415 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_145276.2 -1 validated p.R38 0.084 158 0% 100 39% 2 50% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) AKAP8L 26993 genome.wustl.edu 37 19 15510131 15510131 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014371.2 -1 validated p.R380Q 1.000 27 0% 26 38.5% 90 52.2% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) NULL OR10H5 284433 genome.wustl.edu 37 19 15905717 15905717 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001004466.1 +1 provisional p.S287G 0.993 199 0.5% 134 45.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 CERS1 10715 genome.wustl.edu 37 19 18990092 18990092 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_021267.3 -1 reviewed p.A286 0.002 17 0% 16 43.8% 43 41.8% - - - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 ZNF90 7643 genome.wustl.edu 37 19 20229666 20229666 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007138.1 +1 validated p.K435E 0.027 226 0% 128 45.3% 0 - benign(0.253) tolerated(0.41) neutral(0.041) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CCNE1 898 genome.wustl.edu 37 19 30311680 30311680 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001238.1 +1 reviewed p.A178 1.000 33 0% 32 12.5% 1 0% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like THAP8 199745 genome.wustl.edu 37 19 36530946 36530946 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152658.2 -1 provisional p.S59N 0.981 21 0% 30 50% 4 0% probably_damaging(0.978) deleterious(0.03) deleterious(0.785) HMMPfam_THAP,HMMSmart_DM3 CEACAM5 1048 genome.wustl.edu 37 19 42223893 42223893 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004363.2 +1 validated p.V513M 0.000 281 0% 233 38.2% 0 - benign(0.345) tolerated(0.07) neutral(0.428) HMMSmart_SM00409,superfamily_Immunoglobulin RTN2 6253 genome.wustl.edu 37 19 45997944 45997944 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005619.3 -1 reviewed p.S133 0.000 33 0% 29 51.7% 1 0% - - - NULL PNMAL2 57469 genome.wustl.edu 37 19 46997631 46997631 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020709.1 -1 validated p.D364 0.001 93 0% 47 40.4% 0 - - - - NULL CCDC114 93233 genome.wustl.edu 37 19 48800674 48800674 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_144577.3 -1 validated p.Q524 0.000 15 0% 21 38.1% 19 47.3% - - - NULL KCNA7 3743 genome.wustl.edu 37 19 49574060 49574060 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_031886.2 -1 reviewed p.V211M 0.976 29 0% 20 35% 0 - benign(0.004) tolerated(0.33) neutral(0.024) superfamily_SSF81324 TRPM4 54795 genome.wustl.edu 37 19 49671309 49671309 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017636.2 +1 provisional p.Q135* 1.000 29 0% 23 52.2% 4 75% - - - NULL SIGLEC12 89858 genome.wustl.edu 37 19 52000673 52000673 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_053003.2 -1 reviewed p.T478A 0.000 122 0% 106 47.2% 0 - benign(0.016) tolerated(0.29) neutral(0.030) NULL HAS1 3036 genome.wustl.edu 37 19 52222539 52222539 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001523.2 -1 reviewed p.V208M 1.000 69 0% 36 25% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) superfamily_SSF53448 FPR1 2357 genome.wustl.edu 37 19 52249306 52249306 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002029.3 -1 validated p.H314 0.786 229 0% 173 44.5% 0 - - - - superfamily_Family A G protein-coupled receptor-like ZNF808 388558 genome.wustl.edu 37 19 53057769 53057769 + Missense_Mutation SNP A A G rs144248619 by1000genomes TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001039886.3 +1 validated p.T534A 0.989 724 0% 426 35.9% 0 - benign(0.032) tolerated(0.11) neutral(0.273) superfamily_C2H2 and C2HC zinc fingers CCDC106 29903 genome.wustl.edu 37 19 56162699 56162699 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_013301.2 +1 validated p.R122C 0.351 18 0% 11 36.4% 94 51% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZSCAN1 284312 genome.wustl.edu 37 19 58565340 58565340 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_182572.3 +1 validated p.S383I 0.873 28 0% 27 40.7% 0 - possibly_damaging(0.726) deleterious(0.02) deleterious(0.647) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NOP56 10528 genome.wustl.edu 37 20 2638866 2638866 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006392.2 +1 reviewed p.G571W 0.067 31 0% 51 51% 147 53% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PRND 23627 genome.wustl.edu 37 20 4705357 4705357 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012409.2 +1 reviewed p.N54D 0.062 53 0% 45 44.4% 0 - benign(0.032) tolerated(0.34) neutral(0.025) superfamily_Prion-like FAM83C 128876 genome.wustl.edu 37 20 33875192 33875192 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_178468.4 -1 validated p.R464W 0.137 36 0% 28 39.3% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PLCG1 5335 genome.wustl.edu 37 20 39792735 39792735 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002660.2 +1 reviewed p.G371S 1.000 117 0% 93 40.9% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl C20orf111 51526 genome.wustl.edu 37 20 42826354 42826354 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016470.6 -1 provisional p.A73T 1.000 161 0% 103 38.8% 11 54.5% benign(0.002) tolerated(0.19) neutral(0.050) HMMPfam_DUF776 PLTP 5360 genome.wustl.edu 37 20 44527599 44527599 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006227.2 -1 reviewed p.P488L 0.006 45 0% 36 41.7% 1521 44.6% unknown(0) tolerated(0.22) - NULL SALL4 57167 genome.wustl.edu 37 20 50407849 50407849 + Missense_Mutation SNP A A C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_020436.3 -1 reviewed p.F391L 0.998 83 0% 90 35.6% 2 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 BMP7 655 genome.wustl.edu 37 20 55803352 55803352 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001719.2 -1 reviewed p.R182W 1.000 186 0% 191 49.2% 0 - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) HMMPfam_TGFb_propeptide CDH4 1002 genome.wustl.edu 37 20 60448937 60448937 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001794.2 +1 reviewed p.A344V 1.000 17 0% 28 35.7% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PRPF6 24148 genome.wustl.edu 37 20 62626421 62626421 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012469.3 +1 reviewed p.H197 0.993 144 0% 136 36.8% 6 33.3% - - - NULL PRPF6 24148 genome.wustl.edu 37 20 62632577 62632577 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_012469.3 +1 reviewed p.R391W 1.000 66 0% 38 34.2% 17 58.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_HAT,superfamily_SSF48452 USP16 10600 genome.wustl.edu 37 21 30403007 30403007 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001032410.1 +1 reviewed p.C51 1.000 111 0% 106 44.3% 0 - - - - HMMPfam_zf-UBP,HMMSmart_SM00290 WRB 7485 genome.wustl.edu 37 21 40765168 40765168 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004627.4 +1 reviewed p.P138H 1.000 115 0% 96 38.5% 10 50% unknown(0) - - HMMPfam_CHD5 MX1 4599 genome.wustl.edu 37 21 42807786 42807786 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001144925.1 +1 reviewed p.S43N 0.978 76 0% 73 43.8% 11 45.4% benign(0.202) tolerated(0.14) neutral(0.269) NULL TRAPPC10 7109 genome.wustl.edu 37 21 45507714 45507714 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003274.4 +1 reviewed p.G892R 0.000 66 0% 59 45.8% 1 0% benign(0.001) tolerated(0.81) neutral(0.001) NULL KRTAP10-4 386672 genome.wustl.edu 37 21 45994008 45994008 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_198687.1 +1 reviewed p.C125S 0.665 343 0% 266 32.3% 0 - unknown(0) tolerated(0.4) - NULL PPM1F 9647 genome.wustl.edu 37 22 22300346 22300346 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014634.2 -1 reviewed p.T25 0.000 21 0% 32 53.1% 0 - - - - NULL IGLV7-46 28775 genome.wustl.edu 37 22 22724027 22724027 + Silent SNP T T G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000390295 +1 known p.T4 0.000 19 0% 21 33.3% 0 - - - - NULL EWSR1 2130 genome.wustl.edu 37 22 29674198 29674198 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005243.3 +1 reviewed p.P136S 1.000 70 0% 58 34.5% 18 38.8% unknown(0) tolerated(0.3) - NULL LARGE 9215 genome.wustl.edu 37 22 34022286 34022286 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_004737.4 -1 reviewed p.A145T 1.000 93 0% 62 46.8% 0 - possibly_damaging(0.54) deleterious(0.01) deleterious(0.589) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases APOL2 23780 genome.wustl.edu 37 22 36624081 36624081 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_030882.2 -1 reviewed p.G128D 0.833 174 0% 85 35.3% 2 0% possibly_damaging(0.47) tolerated(0.1) neutral(0.442) HMMPfam_ApoL ADSL 158 genome.wustl.edu 37 22 40759064 40759064 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_000026.2 +1 reviewed p.V364M 1.000 169 0% 131 35.1% 171 27.4% possibly_damaging(0.941) deleterious(0) deleterious(0.831) superfamily_L-aspartase-like PACSIN2 11252 genome.wustl.edu 37 22 43289518 43289518 + Silent SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_007229.3 -1 reviewed p.A54 0.548 33 0% 16 75% 2 50% - - - HMMPfam_FCH,HMMSmart_SM00055 PKDREJ 10343 genome.wustl.edu 37 22 46656706 46656706 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006071.1 -1 reviewed p.S838 0.925 41 0% 36 30.6% 0 - - - - NULL ENSG00000210082 0 genome.wustl.edu 37 MT 2022 2022 + RNA SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000387347 +1 known NULL NULL 36 0% 10 100% 7075 89.7% - - - - ENSG00000198888 0 genome.wustl.edu 37 MT 4216 4216 + Missense_Mutation SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000361390 +1 known p.Y304H NULL 66 0% 28 14.3% 7104 0% benign(0.001) tolerated(0.91) - HMMPfam_NADHdh SHROOM2 357 genome.wustl.edu 37 X 9912900 9912900 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001649.2 +1 reviewed p.R1511W 1.000 39 0% 24 58.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ASD2 CDKL5 6792 genome.wustl.edu 37 X 18616707 18616707 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001037343.1 +1 reviewed p.H317 0.969 251 0.4% 191 44.5% 0 - - - - superfamily_Kinase_like KLHL34 257240 genome.wustl.edu 37 X 21674198 21674198 + Missense_Mutation SNP T T G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_153270.1 -1 provisional p.E570A 0.997 19 0.000 7 0.571 0 - probably_damaging(0.963) tolerated(0.19) neutral(0.455) HMMSmart_Kelch,superfamily_Gal_oxid_central FAM48B2 170067 genome.wustl.edu 37 X 24329623 24329623 + Missense_Mutation SNP C C T rs184929479 by1000genomes TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001136233.1 -1 provisional p.A604T 0.000 58 0% 50 54% 0 - - - - NULL POLA1 5422 genome.wustl.edu 37 X 24861772 24861772 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_016937.3 +1 reviewed p.R1336H 1.000 97 0% 72 38.9% 3 0% probably_damaging(0.973) tolerated(0.05) deleterious(0.760) HMMPfam_zf-DNA_Pol DDX3X 1654 genome.wustl.edu 37 X 41201791 41201791 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001356.3 +1 reviewed p.R110C 1.000 152 0% 105 34.3% 5 20% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL UBA1 7317 genome.wustl.edu 37 X 47062184 47062184 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003334.3 +1 reviewed p.G402W 1.000 39 0% 25 56% 28 17.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MoeB TIMP1 7076 genome.wustl.edu 37 X 47442935 47442935 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_003254.2 +1 reviewed p.V41I 0.986 65 0% 53 43.4% 635 0% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_TIMP,HMMSmart_SM00206,superfamily_TIMP-like HDAC6 10013 genome.wustl.edu 37 X 48675000 48675000 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006044.2 +1 reviewed p.G584D 0.993 24 0% 26 42.3% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_SSF52768 TSPYL2 64061 genome.wustl.edu 37 X 53112308 53112308 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_022117.3 +1 reviewed p.E210K 0.507 33 0% 27 29.6% 11 0% possibly_damaging(0.452) tolerated(0.16) neutral(0.207) NULL PHF8 23133 genome.wustl.edu 37 X 54037692 54037692 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_015107.2 -1 reviewed p.R270H 0.989 182 0% 136 43.4% 0 - possibly_damaging(0.435) tolerated(0.17) neutral(0.201) HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like APEX2 27301 genome.wustl.edu 37 X 55028709 55028709 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_014481.2 +1 reviewed p.N89 0.001 57 0% 41 22% 0 - - - - HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos FAM123B 139285 genome.wustl.edu 37 X 63411272 63411272 + Missense_Mutation SNP T T A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_152424.3 -1 reviewed p.E632V 0.088 106 0% 99 33.3% 0 - possibly_damaging(0.919) deleterious(0) deleterious(0.814) NULL OPHN1 4983 genome.wustl.edu 37 X 67652807 67652807 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002547.2 -1 reviewed p.R19H 1.000 46 0% 29 48.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GDPD2 54857 genome.wustl.edu 37 X 69645624 69645624 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017711.3 +1 reviewed p.R74H 0.001 58 0% 61 36.1% 1 0% benign(0.016) tolerated(0.14) neutral(0.250) NULL ZMYM3 9203 genome.wustl.edu 37 X 70461176 70461176 + Missense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005096.3 -1 reviewed p.R1274Q 1.000 92 0% 73 46.6% 7 0% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL TBX22 50945 genome.wustl.edu 37 X 79281115 79281115 + Missense_Mutation SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001109878.1 +1 reviewed p.S158G 1.000 109 0% 96 34.4% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd CYLC1 1538 genome.wustl.edu 37 X 83126482 83126482 + Silent SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_021118.1 +1 provisional p.S27 0.072 119 0% 119 46.2% 0 - - - - NULL CYLC1 1538 genome.wustl.edu 37 X 83129608 83129608 + Missense_Mutation SNP C C A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_021118.1 +1 provisional p.P631H 0.577 255 0% 286 33.9% 0 - unknown(0) deleterious(0) - NULL NXF5 55998 genome.wustl.edu 37 X 101095986 101095986 + Splice_Site SNP A A G novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_032946.2 -1 reviewed e6+2 0.950 735 0% 638 39.8% 0 - - - - - ESX1 80712 genome.wustl.edu 37 X 103499131 103499131 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_153448.3 -1 reviewed p.D70 0.000 56 0% 65 47.7% 0 - - - - NULL IL1RAPL2 26280 genome.wustl.edu 37 X 104440222 104440222 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_017416.1 +1 reviewed p.R50* 0.990 406 0% 283 46.6% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin ALG13 79868 genome.wustl.edu 37 X 110987996 110987996 + Silent SNP A A T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000394780 +1 known p.P932 0.007 22 0% 22 36.4% 1 0% - - - NULL RNF113A 7737 genome.wustl.edu 37 X 119005256 119005256 + Silent SNP T T C novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_006978.2 -1 reviewed p.K107 0.994 274 0% 231 44.2% 13 0% - - - NULL CT47B1 643311 genome.wustl.edu 37 X 120009264 120009264 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001145718.1 -1 validated p.I87 0.000 28 0% 35 48.6% 0 - - - - NULL THOC2 57187 genome.wustl.edu 37 X 122754770 122754770 + Missense_Mutation SNP G G T novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 ENST00000432353 -1 known p.P157H 1.000 600 0% 544 36% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM127B 26071 genome.wustl.edu 37 X 134186007 134186007 + Silent SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_001078172.1 -1 validated p.I44 1.000 78 0% 100 48% 129 0% - - - NULL RBMX 27316 genome.wustl.edu 37 X 135961586 135961588 + In_Frame_Del DEL TGT TGT - novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_002139.3 -1 reviewed p.MVEA1in_frame_delWLK 1.000 - - - - - - - - - NULL MAGEC1 9947 genome.wustl.edu 37 X 140994185 140994185 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005462.4 +1 reviewed p.G332D 0.021 1121 0% 985 45.3% 0 - unknown(0) tolerated(0.15) - NULL CNGA2 1260 genome.wustl.edu 37 X 150911739 150911739 + Missense_Mutation SNP G G A novel TCGA-AP-A0LD-01A-11W-A062-09 TCGA-AP-A0LD-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8d7763ff-2fec-4e89-a8ec-cb3da4bcd716 a693ad84-d47d-4181-a04c-0b25df5e4ba0 NM_005140.1 +1 reviewed p.R255H 1.000 304 0% 301 47.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324