#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91712684	91712684	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr7:91712684G>T	ENST00000359028.2	+	34	8622	c.8397G>T	c.(8395-8397)aaG>aaT	p.K2799N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K2787N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2799N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2799					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K2799N(1)|p.K2787N(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGACTCTGAAGATCAGTAGCA	0.383			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)											81.0	79.0	80.0					7																	91712684		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8397G>T	7.37:g.91712684G>T	ENSP00000351922:p.Lys2799Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	2.104	-0.405317	0.04832	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.8	-0.24	0.13047	.	0.379769	0.19101	N	0.122715	T	0.30166	0.0756	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.16802	0.019;0.01;0.003;0.006;0.006	B;B;B;B;B	0.15052	0.012;0.003;0.001;0.003;0.003	T	0.12192	-1.0557	10	0.31617	T	0.26	.	5.0863	0.14684	0.4705:0.0:0.3087:0.2208	.	2791;2791;2799;2787;2779	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	N	2787;2799;2799;2791;633	ENSP00000348573:K2787N;ENSP00000351922:K2799N;ENSP00000350813:K2799N;ENSP00000378042:K633N	ENSP00000348573:K2787N	K	+	3	2	AKAP9	91550620	0.000000	0.05858	0.002000	0.10522	0.283000	0.27025	-0.460000	0.06720	0.005000	0.14708	0.591000	0.81541	AAG		0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
ANKRD2	26287	broad.mit.edu;hgsc.bcm.edu	37	10	99343409	99343409	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:99343409G>C	ENST00000307518.5	+	9	1277	c.1010G>C	c.(1009-1011)gGg>gCg	p.G337A	ANKRD2_ENST00000455090.1_Missense_Mutation_p.G277A|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000298808.5_Missense_Mutation_p.G304A|HOGA1_ENST00000370647.4_5'Flank|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.G310A|HOGA1_ENST00000370646.4_5'Flank			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	337					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)	p.G337A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCTGAGCCGGGGGCTGAGCAT	0.687																																																	1	Substitution - Missense(1)	kidney(1)											21.0	19.0	20.0					10																	99343409		2199	4299	6498	SO:0001583	missense	26287			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.1010G>C	10.37:g.99343409G>C	ENSP00000306163:p.Gly337Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316830	0.01331	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.50548	1.01;0.76;0.96;0.74	5.6	-3.98	0.04082	.	0.590250	0.16521	N	0.210814	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.14172	-1.0482	10	0.23891	T	0.37	-8.0773	6.7098	0.23270	0.5027:0.2246:0.2727:0.0	.	304;337	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	A	337;304;310;277	ENSP00000306163:G337A;ENSP00000298808:G304A;ENSP00000359689:G310A;ENSP00000403114:G277A	ENSP00000298808:G304A	G	+	2	0	ANKRD2	99333399	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.217000	0.09253	-0.624000	0.05611	-1.080000	0.02220	GGG		0.687	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
APITD1	378708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10502399	10502399	+	Silent	SNP	A	A	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:10502399A>G	ENST00000309048.3	+	5	429	c.354A>G	c.(352-354)tcA>tcG	p.S118S	APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	118					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S118S(1)		kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AAAAGAAGTCAGAGGATGGAA	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	76.0	74.0					1																	10502399		2203	4300	6503	SO:0001819	synonymous_variant	378708			BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.354A>G	1.37:g.10502399A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NFE5|Q8NFG5	Silent	SNP	ENST00000309048.3	37	CCDS115.1																																																																																				0.408	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2		NM_199294	
FAM222A	84915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110205829	110205829	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:110205829C>T	ENST00000538780.1	+	3	811	c.95C>T	c.(94-96)gCc>gTc	p.A32V	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A32V	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	32								p.A32V(1)									GAGGCGGTGGCCAGCGCCATG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											54.0	50.0	51.0					12																	110205829		2203	4300	6503	SO:0001583	missense	0			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.95C>T	12.37:g.110205829C>T	ENSP00000443292:p.Ala32Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689165	0.29962	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.30981	1.51;1.51	2.3	2.3	0.28687	.	0.317591	0.28268	N	0.015970	T	0.28267	0.0698	L	0.51422	1.61	0.40350	D	0.979127	B	0.22851	0.076	B	0.26310	0.068	T	0.24012	-1.0172	10	0.42905	T	0.14	-7.9663	12.1753	0.54182	0.0:1.0:0.0:0.0	.	32	Q5U5X8	CL034_HUMAN	V	32	ENSP00000443292:A32V;ENSP00000351783:A32V	ENSP00000351783:A32V	A	+	2	0	C12orf34	108690212	0.646000	0.27295	0.972000	0.41901	0.745000	0.42441	1.795000	0.38784	1.591000	0.50007	0.305000	0.20034	GCC		0.657	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1		NM_032829	
ERMARD	55780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	170162545	170162545	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr6:170162545T>A	ENST00000366773.3	+	9	911	c.878T>A	c.(877-879)tTg>tAg	p.L293*	ERMARD_ENST00000366772.2_Nonsense_Mutation_p.L293*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.L167*|ERMARD_ENST00000392095.4_Nonsense_Mutation_p.L167*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.L293*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	293					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L293*(1)									TGCGCCATATTGTTGCTGACA	0.408																																																	1	Substitution - Nonsense(1)	kidney(1)											139.0	134.0	136.0					6																	170162545		2203	4300	6503	SO:0001587	stop_gained	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.878T>A	6.37:g.170162545T>A	ENSP00000355735:p.Leu293*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	T	37	6.192212	0.97362	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	.	.	.	5.07	5.07	0.68467	.	0.000000	0.38436	N	0.001681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8227	0.63333	0.0:0.0:0.0:1.0	.	.	.	.	X	293;293;293;167	.	ENSP00000355734:L293X	L	+	2	0	C6orf70	169904470	0.987000	0.35691	0.066000	0.19879	0.608000	0.37181	4.766000	0.62279	1.905000	0.55150	0.528000	0.53228	TTG		0.408	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2		NM_018341	
CCDC146	57639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76912017	76912017	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr7:76912017A>T	ENST00000285871.4	+	15	2190	c.2063A>T	c.(2062-2064)gAg>gTg	p.E688V	CCDC146_ENST00000431197.1_Missense_Mutation_p.E402V|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	688								p.E688V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAGATTGCTGAGAAGCAAAGA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											70.0	68.0	68.0					7																	76912017		2203	4300	6503	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2063A>T	7.37:g.76912017A>T	ENSP00000285871:p.Glu688Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981112	0.74474	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.43294	0.95;0.95	5.24	5.24	0.73138	.	0.048131	0.85682	D	0.000000	T	0.67097	0.2857	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.72354	-0.4319	10	0.62326	D	0.03	-21.6797	15.1123	0.72368	1.0:0.0:0.0:0.0	.	402;688	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	V	688;402	ENSP00000285871:E688V;ENSP00000413885:E402V	ENSP00000285871:E688V	E	+	2	0	AC007000.1	76749953	1.000000	0.71417	0.994000	0.49952	0.891000	0.51852	6.701000	0.74624	2.108000	0.64289	0.533000	0.62120	GAG		0.393	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1		NM_020879	
CCDC150	284992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197511118	197511118	+	Missense_Mutation	SNP	C	C	A	rs568886595	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:197511118C>A	ENST00000389175.4	+	2	201	c.66C>A	c.(64-66)aaC>aaA	p.N22K	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000272831.7_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	22								p.N22K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCACATCAACGCTACAGCTT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											174.0	161.0	165.0					2																	197511118		1929	4123	6052	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.66C>A	2.37:g.197511118C>A	ENSP00000373827:p.Asn22Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	7.373	0.627165	0.14257	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.28895	1.59	4.53	-7.23	0.01480	.	0.448728	0.21732	N	0.069953	T	0.33059	0.0850	M	0.65975	2.015	0.24325	N	0.995022	P;D	0.55385	0.761;0.971	B;P	0.48873	0.209;0.593	T	0.41233	-0.9520	10	0.48119	T	0.1	.	14.5237	0.67873	0.0:0.2206:0.0:0.7794	.	22;22	Q8NCX0;F5H6M2	CC150_HUMAN;.	K	22	ENSP00000373827:N22K	ENSP00000373827:N22K	N	+	3	2	CCDC150	197219363	0.001000	0.12720	0.139000	0.22197	0.212000	0.24457	-1.372000	0.02570	-1.452000	0.01931	-1.686000	0.00732	AAC		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2		NM_001080539	
CHAF1A	10036	broad.mit.edu;hgsc.bcm.edu	37	19	4430546	4430546	+	Splice_Site	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:4430546G>T	ENST00000301280.5	+	11	1956	c.1855G>T	c.(1855-1857)Gat>Tat	p.D619Y	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	619	Poly-Asp.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D619Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTTTGAGGATGATGATGA	0.463								Chromatin Structure																																									1	Substitution - Missense(1)	kidney(1)											113.0	94.0	101.0					19																	4430546		2203	4300	6503	SO:0001630	splice_region_variant	10036			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1855-1G>T	19.37:g.4430546G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986072	0.53934	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.16597	2.33	4.25	4.25	0.50352	.	.	.	.	.	T	0.40619	0.1124	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.30208	-0.9986	8	.	.	.	-18.7454	9.5763	0.39459	0.0966:0.0:0.9034:0.0	.	619	Q13111	CAF1A_HUMAN	Y	619	ENSP00000301280:D619Y	.	D	+	1	0	CHAF1A	4381546	1.000000	0.71417	0.990000	0.47175	0.641000	0.38312	6.732000	0.74790	2.200000	0.70718	0.313000	0.20887	GAT		0.463	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2		NM_005483	Missense_Mutation
CSRP2BP	57325	broad.mit.edu;hgsc.bcm.edu	37	20	18123411	18123411	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr20:18123411C>T	ENST00000435364.3	+	1	448	c.107C>T	c.(106-108)aCg>aTg	p.T36M	PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000489634.2_5'Flank|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.T36M	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	36					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.T36M(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGGGAGAGACGCTCCTGATC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											180.0	128.0	145.0					20																	18123411		2203	4300	6503	SO:0001583	missense	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.107C>T	20.37:g.18123411C>T	ENSP00000392318:p.Thr36Met	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890418	0.72524	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.22539	1.95;1.95;1.95	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01791	-1.1273	10	0.29301	T	0.29	-27.6699	19.6275	0.95684	0.0:1.0:0.0:0.0	.	36	Q9H8E8	CSR2B_HUMAN	M	36	ENSP00000278816:T36M;ENSP00000366909:T36M;ENSP00000392318:T36M	ENSP00000278816:T36M	T	+	2	0	CSRP2BP	18071411	1.000000	0.71417	0.966000	0.40874	0.311000	0.27955	7.244000	0.78228	2.723000	0.93209	0.563000	0.77884	ACG		0.537	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5		NM_020536	
CTBP1	1487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1206792	1206792	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr4:1206792A>C	ENST00000290921.6	-	8	1229	c.1048T>G	c.(1048-1050)Tgt>Ggt	p.C350G	CTBP1_ENST00000382952.3_Missense_Mutation_p.C339G	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	350	Interaction with GLIS2 2. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C350G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TTGTTGACACAGTTCTTCAGG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											101.0	96.0	98.0					4																	1206792		2203	4300	6503	SO:0001583	missense	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1048T>G	4.37:g.1206792A>C	ENSP00000290921:p.Cys350Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.690475|4.690475	0.88735|0.88735	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921|ENST00000503594;ENST00000504092	D;D|.	0.83914|.	-1.78;-1.78|.	4.57|4.57	4.57|4.57	0.56435|0.56435	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75339|0.75339	0.3836|0.3836	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.96;0.999;0.999|.	D;D;D|.	0.77004|.	0.943;0.989;0.989|.	T|T	0.77395|0.77395	-0.2604|-0.2604	10|5	0.87932|.	D|.	0|.	-12.1992|-12.1992	13.9373|13.9373	0.64032|0.64032	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	136;350;339|.	Q6IP95;Q13363;Q7Z2Q5|.	.;CTBP1_HUMAN;.|.	G|R	339;350|92;196	ENSP00000372411:C339G;ENSP00000290921:C350G|.	ENSP00000290921:C350G|.	C|L	-|-	1|2	0|0	CTBP1|CTBP1	1196792|1196792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	8.469000|8.469000	0.90395|0.90395	1.693000|1.693000	0.51124|0.51124	0.459000|0.459000	0.35465|0.35465	TGT|CTG		0.637	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1		NM_001328	
DECR1	1666	broad.mit.edu;hgsc.bcm.edu	37	8	91013753	91013753	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr8:91013753G>A	ENST00000220764.2	+	1	121	c.33G>A	c.(31-33)ctG>ctA	p.L11L	DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	11					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.L11L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCTTTACTCTGGGGTCCCGGC	0.677											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											24.0	26.0	26.0					8																	91013753		2203	4300	6503	SO:0001819	synonymous_variant	1666			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.33G>A	8.37:g.91013753G>A		Somatic	1279	WXS	Illumina HiSeq	Phase_I	B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	CCDS6250.1																																																																																				0.677	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1			
DGKQ	1609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	954842	954842	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr4:954842G>C	ENST00000273814.3	-	22	2795	c.2722C>G	c.(2722-2724)Cct>Gct	p.P908A	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	908					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.P908A(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATACCTTAGGGCCAGCAGCT	0.687																																					Esophageal Squamous(17;537 645 4447 26373)												1	Substitution - Missense(1)	kidney(1)											33.0	38.0	36.0					4																	954842		2202	4297	6499	SO:0001583	missense	1609			L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2722C>G	4.37:g.954842G>C	ENSP00000273814:p.Pro908Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	9.375	1.071471	0.20147	.	.	ENSG00000145214	ENST00000273814;ENST00000515182	T;T	0.39592	1.07;1.07	5.31	3.6	0.41247	.	0.099034	0.64402	D	0.000001	T	0.51805	0.1696	L	0.39898	1.24	0.47123	D	0.999328	D;P	0.89917	1.0;0.929	D;P	0.87578	0.998;0.703	T	0.47861	-0.9084	10	0.54805	T	0.06	.	9.6907	0.40127	0.1704:0.0:0.8296:0.0	.	908;908	E9KL49;P52824	.;DGKQ_HUMAN	A	908;123	ENSP00000273814:P908A;ENSP00000421756:P123A	ENSP00000273814:P908A	P	-	1	0	DGKQ	944842	1.000000	0.71417	0.003000	0.11579	0.116000	0.19942	5.539000	0.67199	0.634000	0.30469	-0.215000	0.12644	CCT		0.687	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			
DNAH5	1767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	13753411	13753411	+	Silent	SNP	A	A	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr5:13753411A>T	ENST00000265104.4	-	63	10907	c.10803T>A	c.(10801-10803)ccT>ccA	p.P3601P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3601	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P3601P(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATTAACAAAGGGTAACGAG	0.378									Kartagener syndrome																																								1	Substitution - coding silent(1)	kidney(1)											107.0	98.0	101.0					5																	13753411		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10803T>A	5.37:g.13753411A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	
EGFLAM	133584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38427321	38427321	+	Missense_Mutation	SNP	G	G	A	rs144065923	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr5:38427321G>A	ENST00000354891.3	+	14	2367	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R674H|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R440H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R40H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	674	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R674H(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGTTCCGCTTTGACTGT	0.512													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19950	0.0		0.0	False		,,,				2504	0.0				Colon(62;485 1295 3347 17454)												2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG,HIS/ARG,HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	147.0	151.0	150.0		2021,2021,1319	4.9	1.0	5	dbSNP_134	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	29,29,29	0,11,6492	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging,probably-damaging,probably-damaging	674/1018,674/1010,440/776	38427321	11,12995	2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2021G>A	5.37:g.38427321G>A	ENSP00000346964:p.Arg674His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	29.9	5.045862	0.93685	0.00227	1.16E-4	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.76	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.972	D;D;P	0.87578	0.996;0.998;0.755	D	0.91539	0.5248	10	0.62326	D	0.03	-0.6375	14.639	0.68708	0.0696:0.0:0.9304:0.0	.	440;674;674	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	674;674;440;40;440	ENSP00000346964:R674H;ENSP00000313084:R674H;ENSP00000337607:R440H;ENSP00000380385:R40H	ENSP00000313084:R674H	R	+	2	0	EGFLAM	38463078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.395000	0.97266	1.448000	0.47680	0.655000	0.94253	CGC		0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403	
EPAS1	2034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46587819	46587819	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:46587819G>T	ENST00000263734.3	+	5	1007	c.497G>T	c.(496-498)cGg>cTg	p.R166L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	166					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R166L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCACAGAGCGGGACTTCTTC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											78.0	74.0	75.0					2																	46587819		2203	4300	6503	SO:0001583	missense	2034			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.497G>T	2.37:g.46587819G>T	ENSP00000263734:p.Arg166Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726128	0.89298	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.34859	1.34;1.34	4.7	4.7	0.59300	.	0.120757	0.56097	N	0.000039	T	0.69160	0.3080	H	0.96333	3.805	0.58432	D	0.999991	D	0.76494	0.999	D	0.72075	0.976	T	0.78041	-0.2359	10	0.87932	D	0	.	11.3757	0.49726	0.0826:0.0:0.9174:0.0	.	166	Q99814	EPAS1_HUMAN	L	166	ENSP00000406137:R166L;ENSP00000263734:R166L	ENSP00000263734:R166L	R	+	2	0	EPAS1	46441323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.455000	0.73497	2.468000	0.83385	0.555000	0.69702	CGG		0.493	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2		NM_001430	
EPRS	2058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220213565	220213565	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:220213565G>A	ENST00000366923.3	-	2	362	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	31					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.S31S(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTTCTTCAACGGAAATGCTGA	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	111.0	108.0					1																	220213565		2203	4300	6503	SO:0001819	synonymous_variant	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.93C>T	1.37:g.220213565G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	CCDS31027.1																																																																																				0.299	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2		NM_004446	
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45468576	45468576	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:45468576G>A	ENST00000361577.3	+	3	2428	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G	FAM179B_ENST00000361462.2_Silent_p.G738G|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Silent_p.G738G	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	738								p.G738G(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GTACTACTGGGACTCATCAAA	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	101.0	101.0					14																	45468576		2203	4300	6503	SO:0001819	synonymous_variant	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2214G>A	14.37:g.45468576G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	3.092	-0.186746	0.06340	.	.	ENSG00000198718	ENST00000557250	.	.	.	5.19	-3.63	0.04529	.	0.877808	0.09838	N	0.749210	T	0.18383	0.0441	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24297	-1.0164	5	.	.	.	-1.9286	2.3876	0.04370	0.5064:0.1068:0.1702:0.2165	.	.	.	.	E	32	.	.	G	+	2	0	FAM179B	44538326	0.627000	0.27129	0.473000	0.27253	0.638000	0.38207	-0.299000	0.08254	-0.893000	0.03930	0.467000	0.42956	GGA		0.333	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781	
NUTM2G	441457	broad.mit.edu;hgsc.bcm.edu	37	9	99700276	99700276	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr9:99700276T>A	ENST00000372322.3	+	6	1454	c.1433T>A	c.(1432-1434)cTt>cAt	p.L478H	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.L478H	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	478								p.L478H(2)									GGACTCACCCTTGCCCAGGTA	0.607																																																	2	Substitution - Missense(2)	kidney(2)											109.0	114.0	112.0					9																	99700276		1963	4131	6094	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1433T>A	9.37:g.99700276T>A	ENSP00000361397:p.Leu478His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665420	0.29604	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.26810	1.71;2.5	1.01	-1.03	0.10102	.	1.370540	0.04987	N	0.466609	T	0.40222	0.1108	M	0.66939	2.045	0.09310	N	1	D	0.56287	0.975	P	0.58331	0.837	T	0.27434	-1.0074	10	0.72032	D	0.01	.	3.6684	0.08265	0.0:0.5622:0.0:0.4378	.	478	Q5VZR2-2	.	H	478;478;327;359	ENSP00000346670:L478H;ENSP00000361397:L478H	ENSP00000346670:L478H	L	+	2	0	FAM22G	98740097	0.003000	0.15002	0.003000	0.11579	0.136000	0.21042	0.179000	0.16840	-0.290000	0.09025	0.388000	0.25769	CTT		0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2		NM_001170741	
GGA2	23062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	23494281	23494281	+	Silent	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:23494281C>A	ENST00000309859.4	-	9	925	c.843G>T	c.(841-843)cgG>cgT	p.R281R	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'Flank	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	281	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.			R -> W (in Ref. 1; AAF05708). {ECO:0000305}.	intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.R281R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CACTCGCCAACCGGAACAGCG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											159.0	114.0	129.0					16																	23494281		2197	4300	6497	SO:0001819	synonymous_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.843G>T	16.37:g.23494281C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																				0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			
GLB1	2720	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33114174	33114174	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr3:33114174T>C	ENST00000399402.3	-	2	148	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	GLB1_ENST00000445488.2_Missense_Mutation_p.Y84C|GLB1_ENST00000307377.8_Missense_Mutation_p.Y36C|GLB1_ENST00000307363.5_Missense_Mutation_p.Y36C	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	36					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.Y36C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTCCCGGCTATAGTCAATTTC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											56.0	59.0	58.0					3																	33114174		1928	4139	6067	SO:0001583	missense	2720			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.17A>G	3.37:g.33114174T>C	ENSP00000382333:p.Tyr6Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000399402.3	37	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366363	0.61513	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377;ENST00000450835;ENST00000436768	D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	5.65	5.65	0.86999	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.114965	0.64402	D	0.000009	D	0.96926	0.8996	N	0.14661	0.345	0.53688	D	0.999977	D;D;D;D	0.76494	0.992;0.999;0.992;0.997	P;D;P;P	0.64042	0.764;0.921;0.764;0.804	D	0.97042	0.9758	10	0.66056	D	0.02	-12.4303	10.7364	0.46128	0.1421:0.0:0.0:0.8579	.	36;36;36;84	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	C	6;36;84;36;6;84	ENSP00000382333:Y6C;ENSP00000306920:Y36C;ENSP00000393377:Y84C;ENSP00000305920:Y36C;ENSP00000403264:Y6C;ENSP00000387989:Y84C	ENSP00000306920:Y36C	Y	-	2	0	GLB1	33089178	1.000000	0.71417	0.134000	0.22075	0.093000	0.18481	4.833000	0.62766	2.139000	0.66308	0.482000	0.46254	TAT		0.522	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2		NM_000404	
GNB5	10681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52476835	52476835	+	Silent	SNP	T	T	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr15:52476835T>G	ENST00000261837.7	-	2	104	c.39A>C	c.(37-39)tcA>tcC	p.S13S	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	13					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.S13S(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ATTTGTCACATGAGCCAAATA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	116.0	118.0					15																	52476835		2195	4293	6488	SO:0001819	synonymous_variant	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.39A>C	15.37:g.52476835T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR5|Q9HAU9|Q9UFT3	Silent	SNP	ENST00000261837.7	37	CCDS10149.1																																																																																				0.398	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			
IL23A	51561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56733621	56733621	+	Splice_Site	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:56733621G>T	ENST00000228534.4	+	3	574	c.408G>T	c.(406-408)caG>caT	p.Q136H	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	136					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)		p.Q136H(1)		kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AACTCCTGCAGGTATGAAGTA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											57.0	62.0	60.0					12																	56733621		2203	4300	6503	SO:0001630	splice_region_variant	51561			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.408+1G>T	12.37:g.56733621G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	ENST00000228534.4	37	CCDS8916.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122229	0.56613	.	.	ENSG00000110944	ENST00000228534	T	0.18810	2.19	5.54	5.54	0.83059	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.224841	0.31507	N	0.007530	T	0.26448	0.0646	L	0.36672	1.1	0.80722	D	1	P	0.42584	0.784	P	0.47346	0.544	T	0.00790	-1.1565	10	0.87932	D	0	-2.9197	15.3495	0.74370	0.0:0.0:1.0:0.0	.	136	Q9NPF7	IL23A_HUMAN	H	136	ENSP00000228534:Q136H	ENSP00000228534:Q136H	Q	+	3	2	IL23A	55019888	1.000000	0.71417	0.997000	0.53966	0.527000	0.34593	4.694000	0.61760	2.779000	0.95612	0.563000	0.77884	CAG		0.562	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_016584	Missense_Mutation
IL4R	3566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27375116	27375116	+	Missense_Mutation	SNP	G	G	T	rs147700319	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:27375116G>T	ENST00000395762.2	+	11	2702	c.2443G>T	c.(2443-2445)Gtc>Ttc	p.V815F	IL4R_ENST00000380922.3_Missense_Mutation_p.V800F|IL4R_ENST00000543915.2_Missense_Mutation_p.V815F|IL4R_ENST00000170630.2_Missense_Mutation_p.V815F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	815					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.V815F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CGTGAACTTTGTCTCCGTGGG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											118.0	115.0	116.0					16																	27375116		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2443G>T	16.37:g.27375116G>T	ENSP00000379111:p.Val815Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679661	0.29783	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10860	2.84;2.84;2.83;2.84	4.08	3.12	0.35913	.	3.206760	0.01318	N	0.010845	T	0.09992	0.0245	N	0.22421	0.69	0.09310	N	1	P;P;P	0.35982	0.531;0.531;0.531	B;B;B	0.33690	0.118;0.168;0.118	T	0.30909	-0.9962	10	0.46703	T	0.11	-22.229	9.024	0.36218	0.0:0.347:0.653:0.0	.	800;815;815	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	F	815;815;800;815	ENSP00000379111:V815F;ENSP00000441667:V815F;ENSP00000370309:V800F;ENSP00000170630:V815F	ENSP00000170630:V815F	V	+	1	0	IL4R	27282617	0.004000	0.15560	0.003000	0.11579	0.005000	0.04900	1.577000	0.36515	1.062000	0.40625	0.655000	0.94253	GTC		0.527	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61897770	61897770	+	Silent	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr11:61897770C>A	ENST00000394818.3	+	4	973	c.771C>A	c.(769-771)ctC>ctA	p.L257L	INCENP_ENST00000278849.4_Silent_p.L257L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	257					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.L257L(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGTCTAAGCTCAGGATTGCGC	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											64.0	63.0	63.0					11																	61897770		2202	4299	6501	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.771C>A	11.37:g.61897770C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.637	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2		NM_020238	
KIF11	3832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	94397051	94397051	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:94397051G>C	ENST00000260731.3	+	15	2076	c.1986G>C	c.(1984-1986)ttG>ttC	p.L662F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	662					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.L662F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTTCATTGACAGTGGCCG	0.323																																					Colon(47;212 1003 2764 4062 8431)												1	Substitution - Missense(1)	kidney(1)											100.0	102.0	101.0					10																	94397051		2203	4298	6501	SO:0001583	missense	3832			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1986G>C	10.37:g.94397051G>C	ENSP00000260731:p.Leu662Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	7.707	0.694376	0.15039	.	.	ENSG00000138160	ENST00000260731	T	0.64803	-0.12	4.82	4.82	0.62117	.	0.839178	0.10488	N	0.668707	T	0.45856	0.1363	N	0.24115	0.695	0.09310	N	1	P	0.35923	0.528	B	0.35413	0.202	T	0.23655	-1.0182	10	0.25751	T	0.34	.	7.7885	0.29106	0.1815:0.0:0.8185:0.0	.	662	P52732	KIF11_HUMAN	F	662	ENSP00000260731:L662F	ENSP00000260731:L662F	L	+	3	2	KIF11	94387031	0.274000	0.24191	0.868000	0.34077	0.195000	0.23768	1.398000	0.34554	2.381000	0.81170	0.655000	0.94253	TTG		0.323	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1		NM_004523	
KLK8	11202	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51503868	51503868	+	Intron	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:51503868C>T	ENST00000600767.1	-	4	560				KLK8_ENST00000291726.7_Intron|KLK8_ENST00000391806.2_Nonsense_Mutation_p.W59*|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000598195.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_Intron|KLK9_ENST00000376832.4_Intron|KLK8_ENST00000593490.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.W59*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTGGATCGCCACCCTCTGG	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											67.0	63.0	64.0					19																	51503868		2203	4300	6503	SO:0001627	intron_variant	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-29G>A	19.37:g.51503868C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Nonsense_Mutation	SNP	ENST00000600767.1	37	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128209	0.56721	.	.	ENSG00000129455	ENST00000391806	.	.	.	4.27	0.605	0.17553	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	4.1402	0.10189	0.0:0.5875:0.1932:0.2193	.	.	.	.	X	59	.	ENSP00000375682:W59X	W	-	3	0	KLK8	56195680	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.156000	0.10100	0.530000	0.28619	0.561000	0.74099	TGG		0.617	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2		NM_007196	
LIPI	149998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15481370	15481370	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr21:15481370T>C	ENST00000536861.1	-	10	1326	c.1327A>G	c.(1327-1329)Aaa>Gaa	p.K443E	LIPI_ENST00000344577.2_Missense_Mutation_p.K464E|AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	443					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.K464E(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTCTGTCTTTAAGTACAATA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											154.0	162.0	159.0					21																	15481370		2203	4299	6502	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1327A>G	21.37:g.15481370T>C	ENSP00000440381:p.Lys443Glu	Somatic		WXS	Illumina HiSeq	Phase_I	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	t	0.014	-1.580432	0.00879	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87650	-2.28;-2.27	3.7	2.51	0.30379	.	0.800922	0.11408	N	0.567070	T	0.71937	0.3399	N	0.17082	0.46	0.20703	N	0.999866	B	0.06786	0.001	B	0.10450	0.005	T	0.56050	-0.8043	10	0.02654	T	1	.	7.0096	0.24855	0.0:0.0:0.2338:0.7662	.	464	Q6XZB0-2	.	E	464;443	ENSP00000343331:K464E;ENSP00000440381:K443E	ENSP00000343331:K464E	K	-	1	0	LIPI	14403241	0.928000	0.31464	0.987000	0.45799	0.221000	0.24807	0.555000	0.23422	0.740000	0.32651	0.533000	0.62120	AAA		0.343	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_198996	
KRTAP10-9	386676	hgsc.bcm.edu	37	21	46047394	46047394	+	Silent	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr21:46047394C>A	ENST00000397911.3	+	1	355	c.306C>A	c.(304-306)ccC>ccA	p.P102P	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	102	25 X 5 AA repeats of C-C-X(3).			P -> PVCCKT (in Ref. 3; EAX09409). {ECO:0000305}.		keratin filament (GO:0045095)		p.P102P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						gctgcgtgcccgtctgctgca	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											79.0	95.0	90.0					21																	46047394		2201	4299	6500	SO:0001819	synonymous_variant	386676			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.306C>A	21.37:g.46047394C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	CCDS42961.1																																																																																				0.657	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			
LMNB2	84823	hgsc.bcm.edu	37	19	2444467	2444467	+	Silent	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:2444467T>A	ENST00000582871.1	-	2	362	c.276A>T	c.(274-276)cgA>cgT	p.R92R	LMNB2_ENST00000325327.3_Silent_p.R112R	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	92	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)	p.R92R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCACGCTCTCGAGCCGTCT	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	93.0	110.0					19																	2444467		2203	4300	6503	SO:0001819	synonymous_variant	84823			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.276A>T	19.37:g.2444467T>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37																																																																																					0.627	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032737	
LRP1	4035	hgsc.bcm.edu;ucsc.edu	37	12	57550598	57550598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:57550598delC	ENST00000243077.3	+	10	1922	c.1456delC	c.(1456-1458)ccgfs	p.P486fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	486	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTATGGGAAGCCGGGTGGCTG	0.637																																																	0													43.0	39.0	40.0					12																	57550598		2203	4300	6503	SO:0001589	frameshift_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1456delC	12.37:g.57550598delC	ENSP00000243077:p.Pro486fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	CCDS8932.1																																																																																				0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332	
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235918806	235918806	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:235918806A>C	ENST00000389794.3	-	25	7375	c.7201T>G	c.(7201-7203)Ttt>Gtt	p.F2401V	LYST_ENST00000389793.2_Missense_Mutation_p.F2401V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2401					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F2401V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTCGACCAAAGAACATTTCG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											172.0	169.0	170.0					1																	235918806		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7201T>G	1.37:g.235918806A>C	ENSP00000374444:p.Phe2401Val	Somatic		WXS	Illumina HiSeq	Phase_I	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239910	0.79912	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.63255	-0.03;-0.03	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.57536	1.79	0.80722	D	1	D	0.62365	0.991	P	0.60236	0.871	T	0.71728	-0.4505	10	0.36615	T	0.2	.	15.8629	0.79040	1.0:0.0:0.0:0.0	.	2401	Q99698	LYST_HUMAN	V	2401	ENSP00000374444:F2401V;ENSP00000374443:F2401V	ENSP00000374443:F2401V	F	-	1	0	LYST	233985429	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.157000	0.77461	2.156000	0.67533	0.472000	0.43445	TTT		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MKNK2	2872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2041090	2041090	+	Silent	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:2041090G>T	ENST00000591601.1	-	11	1094	c.1059C>A	c.(1057-1059)gcC>gcA	p.A353A	MKNK2_ENST00000250896.3_Silent_p.A353A|MKNK2_ENST00000309340.7_Silent_p.A353A|MKNK2_ENST00000591142.1_Silent_p.A97A|MKNK2_ENST00000541165.1_Silent_p.A222A|MKNK2_ENST00000588014.1_Silent_p.A97A|MKNK2_ENST00000591588.1_Silent_p.A97A			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A353A(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCTGCTTGGCGTCACGGA	0.657																																																	2	Substitution - coding silent(2)	kidney(2)											147.0	115.0	126.0					19																	2041090		2203	4300	6503	SO:0001819	synonymous_variant	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1059C>A	19.37:g.2041090G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	CCDS12080.1																																																																																				0.657	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1		NM_199054	
MTMR2	8898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	95581057	95581057	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr11:95581057C>G	ENST00000346299.5	-	10	1340	c.1000G>C	c.(1000-1002)Ggt>Cgt	p.G334R	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000409459.1_Missense_Mutation_p.G262R|MTMR2_ENST00000352297.7_Missense_Mutation_p.G262R|MTMR2_ENST00000393223.3_Missense_Mutation_p.G262R	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	334	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G334R(1)|p.G262R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAACCTCCACCCTTTGCCTGG	0.328																																																	2	Substitution - Missense(2)	kidney(2)											97.0	92.0	94.0					11																	95581057		2201	4298	6499	SO:0001583	missense	8898			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1000G>C	11.37:g.95581057C>G	ENSP00000345752:p.Gly334Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699445	0.88830	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.48	5.48	0.80851	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.98238	4.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99160	1.0861	10	0.87932	D	0	.	19.3474	0.94370	0.0:1.0:0.0:0.0	.	334;334	A8K5G2;Q13614	.;MTMR2_HUMAN	R	334;262;262;262;262;317	ENSP00000345752:G334R;ENSP00000376915:G262R;ENSP00000386882:G262R;ENSP00000343737:G262R;ENSP00000396020:G262R	ENSP00000345752:G334R	G	-	1	0	MTMR2	95220705	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	7.755000	0.85180	2.575000	0.86900	0.655000	0.94253	GGT		0.328	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1		NM_016156	
NCAN	1463	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19329806	19329806	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:19329806G>A	ENST00000252575.6	+	3	255	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	52	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.A52A(1)|p.A66A(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGCGCTGGCGGAGCTGGTGG	0.647																																																	2	Substitution - coding silent(2)	kidney(2)											30.0	31.0	31.0					19																	19329806		2203	4298	6501	SO:0001819	synonymous_variant	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.156G>A	19.37:g.19329806G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UPK6	Silent	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																				0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		NM_004386	
NLRP6	171389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	281628	281628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr11:281628G>A	ENST00000312165.5	+	4	1894	c.1894G>A	c.(1894-1896)Gcg>Acg	p.A632T	NLRP6_ENST00000534750.1_Missense_Mutation_p.A632T	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	632					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.A632T(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGGAGGACGCGTTTGTGCG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											97.0	108.0	104.0					11																	281628		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1894G>A	11.37:g.281628G>A	ENSP00000309767:p.Ala632Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648589	0.29336	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.53423	0.62;0.62	2.93	0.864	0.19068	.	0.443212	0.16795	N	0.199204	T	0.30665	0.0772	L	0.41236	1.265	0.09310	N	1	P;D	0.54964	0.924;0.969	B;B	0.43251	0.147;0.413	T	0.18272	-1.0342	10	0.13470	T	0.59	.	3.8821	0.09082	0.148:0.2535:0.5985:0.0	.	632;632	E9PJZ8;P59044	.;NALP6_HUMAN	T	632	ENSP00000433617:A632T;ENSP00000309767:A632T	ENSP00000309767:A632T	A	+	1	0	NLRP6	271628	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	0.688000	0.25422	0.231000	0.21079	0.462000	0.41574	GCG		0.642	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1		NM_138329	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82595361	82595361	+	Missense_Mutation	SNP	A	A	G	rs61995907	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr7:82595361A>G	ENST00000333891.9	-	4	4080	c.3743T>C	c.(3742-3744)cTa>cCa	p.L1248P	PCLO_ENST00000423517.2_Missense_Mutation_p.L1248P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L1248P(2)|p.L1187P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCTGGGAGTAGCTTTTTGTC	0.393													A|||	2	0.000399361	0.0015	0.0	5008	,	,		18131	0.0		0.0	False		,,,				2504	0.0																3	Substitution - Missense(3)	kidney(3)						A	PRO/LEU,PRO/LEU	11,3649		0,11,1819	252.0	247.0	248.0		3743,3743	3.0	0.0	7	dbSNP_129	248	0,8154		0,0,4077	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	98,98	0,11,5896	GG,GA,AA		0.0,0.3005,0.0931	possibly-damaging,possibly-damaging	1248/4936,1248/5143	82595361	11,11803	1830	4077	5907	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3743T>C	7.37:g.82595361A>G	ENSP00000334319:p.Leu1248Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	10.97	1.502066	0.26949	0.003005	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18960	2.18;2.22	5.39	3.03	0.35002	.	.	.	.	.	T	0.16896	0.0406	L	0.29908	0.895	0.09310	N	0.999993	P;P	0.47677	0.899;0.899	P;P	0.44990	0.466;0.466	T	0.11991	-1.0565	9	0.87932	D	0	.	4.8935	0.13738	0.7179:0.0:0.1457:0.1364	.	1248;1248	Q9Y6V0-5;Q9Y6V0-6	.;.	P	1187;1248;1248	ENSP00000334319:L1248P;ENSP00000388393:L1248P	ENSP00000334319:L1248P	L	-	2	0	PCLO	82433297	0.001000	0.12720	0.000000	0.03702	0.390000	0.30446	1.246000	0.32803	0.489000	0.27749	0.533000	0.62120	CTA		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PHYHIPL	84457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	60994152	60994152	+	Silent	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:60994152A>C	ENST00000373880.4	+	2	459	c.195A>C	c.(193-195)tcA>tcC	p.S65S	PHYHIPL_ENST00000373878.3_Silent_p.S39S	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	65	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.S65S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CGTGTGACTCATTCAAGATTT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	104.0	108.0					10																	60994152		2203	4300	6503	SO:0001819	synonymous_variant	84457			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.195A>C	10.37:g.60994152A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	CCDS7254.1																																																																																				0.353	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1		NM_032439	
PRKCD	5580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53220309	53220309	+	Missense_Mutation	SNP	G	G	A	rs150331740	byFrequency	TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr3:53220309G>A	ENST00000394729.2	+	12	1541	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	PRKCD_ENST00000330452.3_Missense_Mutation_p.A405T	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.A405T(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GACACTTGCCGCAGAGAATCC	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		20601	0.0		0.002	False		,,,				2504	0.001																2	Substitution - Missense(2)	kidney(2)						G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	143.0	117.0	126.0		1213,1213	1.4	0.9	3	dbSNP_134	126	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PRKCD	NM_006254.3,NM_212539.1	58,58	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,benign	405/677,405/677	53220309	4,13002	2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1213G>A	3.37:g.53220309G>A	ENSP00000378217:p.Ala405Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	G	8.580	0.882089	0.17467	2.27E-4	3.49E-4	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.69435	-0.4;-0.4	5.04	1.36	0.22044	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.282471	0.43416	D	0.000567	T	0.42291	0.1196	N	0.13198	0.31	0.25411	N	0.988352	B	0.09022	0.002	B	0.10450	0.005	T	0.26467	-1.0102	10	0.02654	T	1	.	12.4932	0.55912	0.0:0.0:0.4936:0.5064	.	405	Q05655	KPCD_HUMAN	T	405	ENSP00000378217:A405T;ENSP00000331602:A405T	ENSP00000331602:A405T	A	+	1	0	PRKCD	53195349	1.000000	0.71417	0.903000	0.35520	0.087000	0.18053	4.285000	0.58989	-0.006000	0.14370	0.591000	0.81541	GCA		0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			
PLXND1	23129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	129324730	129324730	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr3:129324730C>A	ENST00000324093.4	-	1	931	c.753G>T	c.(751-753)aaG>aaT	p.K251N	PLXND1_ENST00000393239.1_Missense_Mutation_p.K251N	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	251	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.K251N(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTGAAGAGCTTGGCCAGGT	0.647																																					Ovarian(97;366 1484 3738 22084 39045)												1	Substitution - Missense(1)	kidney(1)											43.0	41.0	42.0					3																	129324730		2203	4300	6503	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.753G>T	3.37:g.129324730C>A	ENSP00000317128:p.Lys251Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	c	15.05	2.716927	0.48622	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.04406	3.63;3.63	3.56	3.56	0.40772	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.798396	0.11238	U	0.584904	T	0.06371	0.0164	L	0.41236	1.265	0.41071	D	0.985455	P	0.43094	0.799	B	0.40901	0.343	T	0.53085	-0.8488	10	0.25751	T	0.34	.	14.3818	0.66916	0.0:1.0:0.0:0.0	.	251	Q9Y4D7	PLXD1_HUMAN	N	251	ENSP00000317128:K251N;ENSP00000376931:K251N	ENSP00000317128:K251N	K	-	3	2	PLXND1	130807420	0.998000	0.40836	1.000000	0.80357	0.761000	0.43186	0.586000	0.23894	1.866000	0.54105	0.291000	0.19559	AAG		0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103	
PRPF39	55015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45571777	45571777	+	Silent	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:45571777T>C	ENST00000355765.6	+	5	785	c.615T>C	c.(613-615)tcT>tcC	p.S205S		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	205					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.S205S(1)|p.S84S(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATTTCCGTTCTGACAGACTGT	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											98.0	101.0	100.0					14																	45571777		2203	4300	6503	SO:0001819	synonymous_variant	55015			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.615T>C	14.37:g.45571777T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q08AL1|Q08AL2|Q9NUU5	Silent	SNP	ENST00000355765.6	37	CCDS9682.2																																																																																				0.353	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			
PSENEN	55851	broad.mit.edu;ucsc.edu	37	19	36237651	36237651	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:36237651T>C	ENST00000587708.2	+	4	892	c.209T>C	c.(208-210)gTg>gCg	p.V70A	AC002398.9_ENST00000591613.2_Intron|U2AF1L4_ENST00000378975.3_5'Flank|LIN37_ENST00000301159.9_5'Flank|PSENEN_ENST00000222266.2_Missense_Mutation_p.V70A|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000588100.1_5'Flank|PSENEN_ENST00000591949.1_3'UTR|U2AF1L4_ENST00000412391.2_5'Flank|U2AF1L4_ENST00000292879.5_5'Flank|AD000671.6_ENST00000589807.1_5'Flank|AC002398.11_ENST00000591091.1_RNA			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	70					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V70A(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGTGATAGTGCTCACCTCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											91.0	94.0	93.0					19																	36237651		2203	4300	6503	SO:0001583	missense	55851			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.209T>C	19.37:g.36237651T>C	ENSP00000468411:p.Val70Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B2R5L9	Missense_Mutation	SNP	ENST00000587708.2	37	CCDS12474.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243014	0.39697	.	.	ENSG00000205155	ENST00000222266	T	0.79033	-1.23	5.86	2.62	0.31277	.	0.416142	0.25677	N	0.029026	T	0.56558	0.1993	N	0.17379	0.485	0.44073	D	0.99682	B	0.06786	0.001	B	0.08055	0.003	T	0.41124	-0.9526	10	0.07990	T	0.79	-8.0848	9.3644	0.38215	0.0:0.213:0.0:0.787	.	70	Q9NZ42	PEN2_HUMAN	A	70	ENSP00000222266:V70A	ENSP00000222266:V70A	V	+	2	0	PSENEN	40929491	0.999000	0.42202	0.849000	0.33467	0.995000	0.86356	2.266000	0.43320	0.478000	0.27488	0.533000	0.62120	GTG		0.602	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2		NM_172341	
SALL4	57167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50408862	50408862	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr20:50408862C>T	ENST00000217086.4	-	2	271	c.160G>A	c.(160-162)Gag>Aag	p.E54K	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.E54K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	54					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E54K(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCGCCACCTCGTCATTCCCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											49.0	51.0	50.0					20																	50408862		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.160G>A	20.37:g.50408862C>T	ENSP00000217086:p.Glu54Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214285	0.58452	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.54279	0.58;0.58	5.41	4.44	0.53790	.	1.148980	0.06636	N	0.760062	T	0.36552	0.0971	N	0.08118	0	0.80722	D	1	B;B	0.28605	0.217;0.217	B;B	0.22152	0.038;0.038	T	0.01977	-1.1236	10	0.42905	T	0.14	-12.8733	13.2978	0.60307	0.0:0.9205:0.0:0.0795	.	54;54	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	K	54	ENSP00000217086:E54K;ENSP00000379319:E54K	ENSP00000217086:E54K	E	-	1	0	SALL4	49842269	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	1.684000	0.37649	1.204000	0.43247	0.655000	0.94253	GAG		0.552	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			
SCN2A	6326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166170262	166170262	+	Silent	SNP	T	T	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:166170262T>G	ENST00000375437.2	+	9	1457	c.1167T>G	c.(1165-1167)ctT>ctG	p.L389L	SCN2A_ENST00000375427.2_Silent_p.L389L|SCN2A_ENST00000283256.6_Silent_p.L389L|SCN2A_ENST00000357398.3_Silent_p.L389L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	389					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L389L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGAAAACCTTTATCAACTGG	0.373																																																	2	Substitution - coding silent(2)	kidney(2)											86.0	84.0	85.0					2																	166170262		2203	4299	6502	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1167T>G	2.37:g.166170262T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007	
SLC35B2	347734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44222678	44222678	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr6:44222678A>G	ENST00000393812.3	-	4	1207	c.1064T>C	c.(1063-1065)aTc>aCc	p.I355T	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.I222T|SLC35B2_ENST00000538577.1_Missense_Mutation_p.I262T	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	355					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.I355T(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTGTAAAAGATGAAGAGCTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											60.0	52.0	55.0					6																	44222678		2203	4300	6503	SO:0001583	missense	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1064T>C	6.37:g.44222678A>G	ENSP00000377401:p.Ile355Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	a	21.8	4.196517	0.79015	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.40476	1.03;1.03;1.03	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81607	-0.0856	10	0.87932	D	0	-30.6983	14.7533	0.69543	1.0:0.0:0.0:0.0	.	262;355	F5H7Y9;Q8TB61	.;S35B2_HUMAN	T	355;222;262;315	ENSP00000377401:I355T;ENSP00000440340:I222T;ENSP00000443845:I262T	ENSP00000342455:I315T	I	-	2	0	SLC35B2	44330656	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.278000	0.95766	1.894000	0.54839	0.441000	0.28932	ATC		0.582	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			
SNHG14	104472715	broad.mit.edu;hgsc.bcm.edu	37	15	25313022	25313022	+	RNA	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr15:25313022T>C	ENST00000549804.2	+	0	538				SNORD116-8_ENST00000384365.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TCATCAGAACTGAGGTCCAGC	0.493																																																	0													161.0	141.0	147.0					15																	25313022		876	1991	2867			100033417					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25313022T>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000549804.2	37																																																																																					0.493	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65253682	65253682	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:65253682C>G	ENST00000389721.5	-	15	3033	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q	SPTB_ENST00000556626.1_Missense_Mutation_p.E1001Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E1001Q|SPTB_ENST00000389722.3_Missense_Mutation_p.E1001Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E1001Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1001					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E1001Q(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACGTCACGCTCCAGCCCTGAC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											92.0	83.0	86.0					14																	65253682		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3001G>C	14.37:g.65253682C>G	ENSP00000374371:p.Glu1001Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288399	0.80803	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.89	3.98	0.46160	.	0.141328	0.52532	D	0.000080	T	0.72350	0.3449	M	0.84683	2.71	0.49798	D	0.999824	D;D	0.76494	0.999;0.971	D;P	0.77557	0.99;0.855	T	0.75204	-0.3400	10	0.51188	T	0.08	.	11.8752	0.52544	0.0:0.9121:0.0:0.0879	.	1001;1005	P11277;Q59FP5	SPTB1_HUMAN;.	Q	1005;1001;1001;1001;1001;1001	ENSP00000374372:E1001Q;ENSP00000451752:E1001Q;ENSP00000374371:E1001Q;ENSP00000443882:E1001Q;ENSP00000374370:E1001Q	ENSP00000374370:E1001Q	E	-	1	0	SPTB	64323435	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.072000	0.71238	2.430000	0.82344	0.549000	0.68633	GAG		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65253739	65253739	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:65253739C>G	ENST00000389721.5	-	15	2976	c.2944G>C	c.(2944-2946)Gac>Cac	p.D982H	SPTB_ENST00000556626.1_Missense_Mutation_p.D982H|SPTB_ENST00000542895.1_Missense_Mutation_p.D982H|SPTB_ENST00000389722.3_Missense_Mutation_p.D982H|SPTB_ENST00000389720.3_Missense_Mutation_p.D982H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	982					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.D982H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGCCCCAGGTCTTTTGTGGAC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											81.0	77.0	79.0					14																	65253739		2203	4300	6503	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2944G>C	14.37:g.65253739C>G	ENSP00000374371:p.Asp982His	Somatic		WXS	Illumina HiSeq	Phase_I	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915349	0.73098	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.06	4.17	0.49024	.	0.051264	0.85682	D	0.000000	T	0.73721	0.3623	M	0.86651	2.83	0.80722	D	1	D;P	0.76494	0.999;0.493	D;B	0.71184	0.972;0.326	T	0.78142	-0.2319	10	0.59425	D	0.04	.	12.7893	0.57523	0.0:0.9184:0.0:0.0816	.	982;986	P11277;Q59FP5	SPTB1_HUMAN;.	H	986;982;982;982;982;982	ENSP00000374372:D982H;ENSP00000451752:D982H;ENSP00000374371:D982H;ENSP00000443882:D982H;ENSP00000374370:D982H	ENSP00000374370:D982H	D	-	1	0	SPTB	64323492	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.992000	0.56980	1.271000	0.44313	0.549000	0.68633	GAC		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			
TACC2	10579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123845033	123845033	+	Silent	SNP	G	G	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr10:123845033G>A	ENST00000369005.1	+	4	3358	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q	TACC2_ENST00000515273.1_Silent_p.Q1006Q|TACC2_ENST00000334433.3_Silent_p.Q1006Q|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.Q1006Q|TACC2_ENST00000453444.2_Silent_p.Q1006Q	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1006					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.Q1006Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGCAGCCAGCATGAAGAAG	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	37.0	36.0					10																	123845033		2203	4300	6503	SO:0001819	synonymous_variant	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3018G>A	10.37:g.123845033G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	CCDS7626.1																																																																																				0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			
TICAM1	148022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4817858	4817858	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:4817858G>T	ENST00000248244.5	-	2	761	c.532C>A	c.(532-534)Ctc>Atc	p.L178I		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	178					apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.L178I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGCGTGGGAGGCTCCTGGTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											79.0	79.0	79.0					19																	4817858		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.532C>A	19.37:g.4817858G>T	ENSP00000248244:p.Leu178Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.016960	0.19355	.	.	ENSG00000127666	ENST00000248244	T	0.46819	0.86	4.66	1.2	0.21068	.	1.341310	0.05669	N	0.588320	T	0.38188	0.1031	L	0.50333	1.59	0.09310	N	1	B	0.26002	0.139	B	0.16722	0.016	T	0.33007	-0.9885	10	0.48119	T	0.1	-5.7735	2.2269	0.03986	0.1419:0.3445:0.3512:0.1623	.	178	Q8IUC6	TCAM1_HUMAN	I	178	ENSP00000248244:L178I	ENSP00000248244:L178I	L	-	1	0	TICAM1	4768858	0.009000	0.17119	0.152000	0.22495	0.161000	0.22273	0.384000	0.20668	0.474000	0.27392	0.305000	0.20034	CTC		0.642	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1		NM_014261	
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	38119680	38119680	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr22:38119680C>A	ENST00000406386.3	+	7	1372	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	373					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.P373T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TACTTGTACTCCCCAGCGGGA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											122.0	130.0	127.0					22																	38119680		1878	4103	5981	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1117C>A	22.37:g.38119680C>A	ENSP00000384312:p.Pro373Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210707	0.22289	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19105	2.17	2.63	-1.64	0.08318	.	.	.	.	.	T	0.06690	0.0171	N	0.03115	-0.41	0.09310	N	0.999998	B	0.17038	0.02	B	0.12837	0.008	T	0.37126	-0.9719	9	0.22706	T	0.39	.	2.0582	0.03586	0.2527:0.3687:0.0:0.3786	.	373	Q9H2D6	TARA_HUMAN	T	373	ENSP00000384312:P373T	ENSP00000384312:P373T	P	+	1	0	TRIOBP	36449626	0.000000	0.05858	0.001000	0.08648	0.543000	0.35085	-1.342000	0.02645	-0.015000	0.14150	0.400000	0.26472	CCC		0.557	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			
TRPM6	140803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77442693	77442693	+	Splice_Site	SNP	C	C	T	rs371363425		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr9:77442693C>T	ENST00000360774.1	-	7	1079		c.e7+1		TRPM6_ENST00000451710.3_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376872.3_Splice_Site|TRPM6_ENST00000359047.2_Missense_Mutation_p.R281H|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000376871.3_Splice_Site|TRPM6_ENST00000483186.1_Splice_Site	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTGATACTCACGGCAGTGTAT	0.517																																																	1	Unknown(1)	kidney(1)						C	,,	0,4406		0,0,2203	99.0	92.0	94.0		,,	5.2	1.0	9		94	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5,splice-5	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,	77442693	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.841+1G>A	9.37:g.77442693C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444091|3.444091	0.63067|0.63067	0.0|0.0	1.16E-4|1.16E-4	ENSG00000119121|ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864|ENST00000359047	.|T	.|0.66995	.|-0.24	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|.	.|.	.|.	.|.	.|D	.|0.82949	.|0.5148	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71184	.|0.972	.|D	.|0.85287	.|0.1065	.|8	.|0.87932	.|D	.|0	.|.	19.0726|19.0726	0.93145|0.93145	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|281	.|Q96LV9	.|.	.|H	-1|281	.|ENSP00000351942:R281H	.|ENSP00000351942:R281H	.|R	-|-	.|2	.|0	TRPM6|TRPM6	76632513|76632513	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.533000|0.533000	0.34776|0.34776	7.523000|7.523000	0.81856|0.81856	2.580000|2.580000	0.87095|0.87095	0.591000|0.591000	0.81541|0.81541	.|CGT		0.517	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662	Intron
TSHZ2	128553	hgsc.bcm.edu;ucsc.edu	37	20	51870779	51870779	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr20:51870779delG	ENST00000371497.5	+	2	1669	c.782delG	c.(781-783)aggfs	p.R261fs	TSHZ2_ENST00000329613.6_Frame_Shift_Del_p.R258fs|TSHZ2_ENST00000603338.2_Frame_Shift_Del_p.R258fs|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	261					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCCAGGAAAAGGGCTTTCCAG	0.473																																																	0													67.0	52.0	57.0					20																	51870779		2203	4300	6503	SO:0001589	frameshift_variant	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.782delG	20.37:g.51870779delG	ENSP00000360552:p.Arg261fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Frame_Shift_Del	DEL	ENST00000371497.5	37	CCDS33490.1																																																																																				0.473	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		NM_173485	
TTC8	123016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	89307274	89307274	+	Splice_Site	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:89307274T>C	ENST00000345383.5	+	3	383		c.e3+2		TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000346301.4_Splice_Site|TTC8_ENST00000338104.6_Splice_Site|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000536576.1_Splice_Site|Y_RNA_ENST00000384612.1_RNA	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8						axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCCGTTAGGTATGTACTTCT	0.388																																																	1	Unknown(1)	kidney(1)											56.0	60.0	59.0					14																	89307274		2203	4300	6503	SO:0001630	splice_region_variant	123016			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.299+2T>C	14.37:g.89307274T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Splice_Site	SNP	ENST00000345383.5	37	CCDS9885.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575383	0.28092	.	.	ENSG00000165533	ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651;ENST00000554686	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8589	0.70362	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC8	88377027	1.000000	0.71417	0.894000	0.35097	0.062000	0.15995	7.672000	0.83956	1.903000	0.55091	0.460000	0.39030	.		0.388	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1		NM_144596	Intron
TTC7B	145567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	91110479	91110479	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:91110479A>T	ENST00000328459.6	-	15	1785	c.1664T>A	c.(1663-1665)cTt>cAt	p.L555H	TTC7B_ENST00000554654.1_5'UTR|RP11-1078H9.5_ENST00000553826.1_RNA|TTC7B_ENST00000357056.2_Missense_Mutation_p.L555H|RP11-1078H9.5_ENST00000557007.1_RNA	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	555								p.L555H(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGGAGGGCAAGGAGGTGCAG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											180.0	169.0	173.0					14																	91110479		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1664T>A	14.37:g.91110479A>T	ENSP00000336127:p.Leu555His	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846527	0.91277	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000540938	D;D;T	0.82803	-1.65;-1.65;0.74	5.8	5.8	0.92144	Protein prenyltransferase (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91502	0.5220	10	0.87932	D	0	-13.619	16.1549	0.81657	1.0:0.0:0.0:0.0	.	555	Q86TV6	TTC7B_HUMAN	H	453;555;555;25;297	ENSP00000349564:L555H;ENSP00000336127:L555H;ENSP00000451440:L25H	ENSP00000336127:L555H	L	-	2	0	TTC7B	90180232	1.000000	0.71417	0.822000	0.32727	0.923000	0.55619	8.962000	0.93254	2.209000	0.71365	0.533000	0.62120	CTT		0.493	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			
UBIAD1	29914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11345987	11345987	+	Missense_Mutation	SNP	C	C	A	rs373426663		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:11345987C>A	ENST00000376810.5	+	2	1142	c.816C>A	c.(814-816)ttC>ttA	p.F272L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	272					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.F272L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ACCTGGTCTTCAGCATCCTGG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											234.0	168.0	190.0					1																	11345987		2203	4300	6503	SO:0001583	missense	29914				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.816C>A	1.37:g.11345987C>A	ENSP00000366006:p.Phe272Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971897	0.53614	.	.	ENSG00000120942	ENST00000376810	D	0.91631	-2.88	6.08	5.16	0.70880	.	0.095871	0.64402	D	0.000001	D	0.86331	0.5907	L	0.33485	1.01	0.80722	D	1	B	0.18741	0.03	B	0.23716	0.048	T	0.80377	-0.1408	10	0.17369	T	0.5	-21.5168	11.0401	0.47825	0.0:0.8572:0.0:0.1428	.	272	Q9Y5Z9	UBIA1_HUMAN	L	272	ENSP00000366006:F272L	ENSP00000366006:F272L	F	+	3	2	UBIAD1	11268574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.987000	0.40687	1.555000	0.49500	0.591000	0.81541	TTC		0.587	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1		NM_013319	
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73835999	73835999	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr17:73835999A>C	ENST00000207549.4	-	12	1355	c.976T>G	c.(976-978)Tcg>Gcg	p.S326A	UNC13D_ENST00000412096.2_Missense_Mutation_p.S326A|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	326	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.S326A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACTCAGCGACCCGTCCCAG	0.662									Familial Hemophagocytic Lymphohistiocytosis																																								1	Substitution - Missense(1)	kidney(1)											80.0	68.0	72.0					17																	73835999		2203	4300	6503	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.976T>G	17.37:g.73835999A>C	ENSP00000207549:p.Ser326Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	A	8.412	0.844367	0.16963	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69175	-0.37;-0.38	4.43	2.06	0.26882	.	0.396290	0.21183	N	0.078787	T	0.33294	0.0858	N	0.03608	-0.345	0.23043	N	0.998381	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.21759	-1.0236	10	0.07482	T	0.82	-0.682	5.8402	0.18629	0.4757:0.3988:0.0:0.1255	.	326;326	B4DTQ6;Q70J99	.;UN13D_HUMAN	A	326	ENSP00000207549:S326A;ENSP00000388093:S326A	ENSP00000207549:S326A	S	-	1	0	UNC13D	71347594	0.599000	0.26891	0.056000	0.19401	0.078000	0.17371	3.026000	0.49689	0.718000	0.32166	0.460000	0.39030	TCG		0.662	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950	
UPP2	151531	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158971713	158971713	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr2:158971713T>C	ENST00000005756.4	+	3	475	c.281T>C	c.(280-282)aTc>aCc	p.I94T	UPP2_ENST00000409859.4_Missense_Mutation_p.I151T|UPP2_ENST00000605860.1_Missense_Mutation_p.I151T|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	94					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.I94T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ATAAAAGACATCTGTGCTGGG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											107.0	106.0	106.0					2																	158971713		2203	4300	6503	SO:0001583	missense	151531			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.281T>C	2.37:g.158971713T>C	ENSP00000005756:p.Ile94Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836138	0.71373	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.44482	0.92;0.92	5.59	4.44	0.53790	Nucleoside phosphorylase domain (1);	0.050830	0.85682	D	0.000000	T	0.65544	0.2701	M	0.84773	2.715	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	T	0.69026	-0.5254	10	0.72032	D	0.01	.	10.6165	0.45454	0.0:0.0764:0.0:0.9236	.	94	O95045	UPP2_HUMAN	T	151;94	ENSP00000387230:I151T;ENSP00000005756:I94T	ENSP00000005756:I94T	I	+	2	0	UPP2	158679959	1.000000	0.71417	0.914000	0.36105	0.885000	0.51271	4.985000	0.63845	0.950000	0.37743	-0.274000	0.10170	ATC		0.473	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2		NM_173355	
XIST	7503	broad.mit.edu;hgsc.bcm.edu	37	X	73071200	73071200	+	lincRNA	SNP	G	G	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chrX:73071200G>T	ENST00000429829.1	-	0	1388					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACTGCGGCAAGACCTTCAGCC	0.527																																																	0													271.0	246.0	254.0					X																	73071200		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071200G>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000429829.1	37																																																																																					0.527	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1		NR_001564	
XPO6	23214	broad.mit.edu;ucsc.edu	37	16	28181115	28181115	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:28181115T>C	ENST00000304658.5	-	5	1021	c.521A>G	c.(520-522)aAg>aGg	p.K174R	XPO6_ENST00000565698.1_Missense_Mutation_p.K160R	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	174					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.K174R(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CAGTAGCAGCTTCCGCAACTC	0.582																																																	2	Substitution - Missense(2)	kidney(2)											65.0	67.0	67.0					16																	28181115		2015	4186	6201	SO:0001583	missense	23214			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.521A>G	16.37:g.28181115T>C	ENSP00000302790:p.Lys174Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915224	0.33815	.	.	ENSG00000169180	ENST00000304658	T	0.43688	0.94	5.75	5.75	0.90469	Exportin-1/Importin-beta-like (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	N	0.13299	0.325	0.58432	D	0.99999	B;B	0.19935	0.04;0.015	B;B	0.25140	0.058;0.013	T	0.11542	-1.0583	10	0.15952	T	0.53	-21.4639	14.008	0.64478	0.0:0.0:0.0:1.0	.	174;174	B7ZM10;Q96QU8	.;XPO6_HUMAN	R	174	ENSP00000302790:K174R	ENSP00000302790:K174R	K	-	2	0	XPO6	28088616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.234000	0.72326	2.178000	0.69098	0.533000	0.62120	AAG		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1		XM_055195	
XRCC6	2547	broad.mit.edu;hgsc.bcm.edu	37	22	42054277	42054277	+	Silent	SNP	C	C	T	rs139850731		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr22:42054277C>T	ENST00000359308.4	+	10	2098	c.1443C>T	c.(1441-1443)ccC>ccT	p.P481P	XRCC6_ENST00000402580.3_Silent_p.P440P|XRCC6_ENST00000405878.1_Silent_p.P481P|XRCC6_ENST00000405506.1_Silent_p.P431P|XRCC6_ENST00000428575.2_Silent_p.P348P|XRCC6_ENST00000360079.3_Silent_p.P481P			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	481					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P481P(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTGAGAACCCCGTGCTGCAGC	0.418								Non-homologous end-joining																																									2	Substitution - coding silent(2)	kidney(1)|central_nervous_system(1)						C		0,4406		0,0,2203	77.0	76.0	77.0		1443	-4.8	1.0	22	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XRCC6	NM_001469.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		481/610	42054277	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2547			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1443C>T	22.37:g.42054277C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Silent	SNP	ENST00000359308.4	37	CCDS14021.1																																																																																				0.418	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1		NM_001469	
ZBTB40	9923	hgsc.bcm.edu;ucsc.edu	37	1	22850736	22850737	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:22850736_22850737insT	ENST00000375647.4	+	17	3531_3532	c.3324_3325insT	c.(3325-3327)tgtfs	p.C1109fs	ZBTB40_ENST00000404138.1_Frame_Shift_Ins_p.C1109fs|ZBTB40_ENST00000374651.4_Frame_Shift_Ins_p.C997fs	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1109					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGCTTGTACTGTGCTGCTAC	0.55																																																	0																																										SO:0001589	frameshift_variant	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3325dupT	1.37:g.22850737_22850737dupT	ENSP00000364798:p.Cys1109fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75066|Q5TFU5|Q8N1R1	Frame_Shift_Ins	INS	ENST00000375647.4	37	CCDS224.1																																																																																				0.550	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870	
YY1AP1	55249	broad.mit.edu;hgsc.bcm.edu	37	1	155630682	155630682	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr1:155630682T>A	ENST00000295566.4	-	11	1180	c.1157A>T	c.(1156-1158)gAa>gTa	p.E386V	YY1AP1_ENST00000311573.5_Missense_Mutation_p.E309V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E340V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E309V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E478V|YY1AP1_ENST00000368340.5_Missense_Mutation_p.E458V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E329V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E320V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E329V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E186V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E340V|YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E340V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	386					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E386V(1)|p.E478V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCGCAGTTCTTCCTGGATGGA	0.453																																																	2	Substitution - Missense(2)	kidney(2)											92.0	87.0	89.0					1																	155630682		2203	4300	6503	SO:0001583	missense	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1157A>T	1.37:g.155630682T>A	ENSP00000295566:p.Glu386Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Nonsense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	t	14.93	2.681557	0.47991	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.26518	1.76;1.76;1.76;1.76;1.76;1.74;1.75;1.76;1.76;1.77;1.73;1.76	2.57	2.57	0.30868	.	0.642529	0.15097	N	0.280750	T	0.27169	0.0666	M	0.62723	1.935	0.80722	D	1	P;D;D;P;D	0.58970	0.752;0.98;0.96;0.948;0.984	B;P;P;P;P	0.61397	0.39;0.572;0.888;0.452;0.791	T	0.09465	-1.0673	10	0.62326	D	0.03	.	5.6211	0.17457	0.0:0.142:0.0:0.858	.	478;320;386;340;458	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	V	329;340;309;340;329;458;386;340;309;320;478;186	ENSP00000352134:E329V;ENSP00000347686:E340V;ENSP00000311138:E309V;ENSP00000316079:E340V;ENSP00000355298:E329V;ENSP00000357324:E458V;ENSP00000295566:E386V;ENSP00000357314:E340V;ENSP00000385791:E309V;ENSP00000385390:E320V;ENSP00000357323:E478V;ENSP00000437926:E186V	ENSP00000295566:E386V	E	-	2	0	YY1AP1	153897306	0.110000	0.22057	0.954000	0.39281	0.971000	0.66376	1.555000	0.36277	1.169000	0.42739	0.260000	0.18958	GAA		0.453	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118	
ZFX	7543	hgsc.bcm.edu;ucsc.edu	37	X	24197441	24197458	+	In_Frame_Del	DEL	TTATTGAGGACGTTGTTA	TTATTGAGGACGTTGTTA	-	rs150946689		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	TTATTGAGGACGTTGTTA	TTATTGAGGACGTTGTTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chrX:24197441_24197458delTTATTGAGGACGTTGTTA	ENST00000379177.1	+	6	627_644	c.200_217delTTATTGAGGACGTTGTTA	c.(199-219)gttattgaggacgttgttata>gta	p.IEDVVI68del	ZFX_ENST00000304543.5_In_Frame_Del_p.IEDVVI68del|ZFX_ENST00000540034.1_In_Frame_Del_p.IEDVVI107del|ZFX_ENST00000338565.3_In_Frame_Del_p.IEDVVI68del|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_In_Frame_Del_p.IEDVVI68del|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	68					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATCCAAGATGTTATTGAGGACGTTGTTATAGAAGATGT	0.399																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0																																										SO:0001651	inframe_deletion	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.200_217delTTATTGAGGACGTTGTTA	X.37:g.24197441_24197458delTTATTGAGGACGTTGTTA	ENSP00000368475:p.Ile68_Ile73del	Somatic		WXS	Illumina HiSeq	Phase_I	B9EG97|O43668|Q8WYJ8	In_Frame_Del	DEL	ENST00000379177.1	37	CCDS14211.1																																																																																				0.399	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1		NM_003410	
ZNF223	7766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44571333	44571333	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr19:44571333G>C	ENST00000434772.3	+	5	1607	c.1352G>C	c.(1351-1353)aGt>aCt	p.S451T	ZNF223_ENST00000591793.1_Missense_Mutation_p.S561T	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S451T(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAAAACCACAGTGGAGAAAAT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											67.0	70.0	69.0					19																	44571333		2203	4300	6503	SO:0001583	missense	7766			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1352G>C	19.37:g.44571333G>C	ENSP00000401947:p.Ser451Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382699	0.01204	.	.	ENSG00000178386	ENST00000434772	T	0.12569	2.67	2.46	-4.93	0.03066	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.02391	-0.57	0.09310	N	1	B	0.19200	0.034	B	0.24974	0.057	T	0.45338	-0.9268	9	0.02654	T	1	.	10.3203	0.43762	0.1228:0.7079:0.1692:0.0	.	451	Q9UK11	ZN223_HUMAN	T	451	ENSP00000401947:S451T	ENSP00000401947:S451T	S	+	2	0	ZNF223	49263173	0.000000	0.05858	0.001000	0.08648	0.148000	0.21650	0.070000	0.14573	-0.634000	0.05538	0.313000	0.20887	AGT		0.378	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			
CLEC18B	497190	broad.mit.edu	37	16	74455087	74455087	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr16:74455087C>T	ENST00000339953.5	-	1	203	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	RP11-252A24.5_ENST00000567148.1_RNA|RP11-252A24.5_ENST00000566506.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	28						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.V28M(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCCACACCTCTGCCCAG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											72.0	86.0	81.0					16																	74455087		2196	4300	6496	SO:0001583	missense	497190			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.82G>A	16.37:g.74455087C>T	ENSP00000341051:p.Val28Met	Somatic		WXS	Illumina GAIIx	Phase_I	B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	9.331	1.060550	0.19987	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.09817	2.94	2.68	-0.555	0.11807	.	1.643330	0.03412	N	0.204960	T	0.07818	0.0196	N	0.24115	0.695	0.09310	N	1	B;B;B	0.23316	0.076;0.017;0.083	B;B;B	0.20577	0.009;0.03;0.03	T	0.34900	-0.9810	10	0.33940	T	0.23	.	5.0272	0.14391	0.0:0.5271:0.0:0.4729	.	28;28;28	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	M	28	ENSP00000341051:V28M	ENSP00000268492:V28M	V	-	1	0	CLEC18B	73012588	0.000000	0.05858	0.068000	0.19968	0.143000	0.21401	-0.691000	0.05133	0.040000	0.15660	0.423000	0.28283	GTG		0.657	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1		NM_001011880	
GOLGA6L5P	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr15:85056021T>C	ENST00000560239.1	-	0	984				GOLGA6L5_ENST00000414190.2_RNA																							GTAGCTGCTCTACCTTAGATG	0.502																																																	0																																												374650																															15.37:g.85056021T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000560239.1	37																																																																																					0.502	RP11-182J1.12-001	KNOWN	mRNA_end_NF|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000418581.1			
LIMA1	51474	broad.mit.edu	37	12	50627995	50627995	+	Intron	DEL	T	T	-	rs530660438		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr12:50627995delT	ENST00000341247.4	-	3	269				LIMA1_ENST00000394943.3_Intron|MIR1293_ENST00000408677.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CAGAACAACCttttttttttt	0.478																																																	0													2.0	2.0	2.0					12																	50627995		1268	2822	4090	SO:0001627	intron_variant	100302220			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.120-2502A>-	12.37:g.50627995delT		Somatic		WXS	Illumina GAIIx	Phase_I	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	RNA	DEL	ENST00000341247.4	37	CCDS8802.1																																																																																				0.478	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357	
RBM25	58517	broad.mit.edu	37	14	73570019	73570019	+	Missense_Mutation	SNP	G	G	T	rs370213288		TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr14:73570019G>T	ENST00000261973.7	+	10	1272	c.987G>T	c.(985-987)agG>agT	p.R329S	RBM25_ENST00000527432.1_Missense_Mutation_p.R329S	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	329	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R329S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		aacgagaaagggaaagagaac	0.502																																																	1	Substitution - Missense(1)	kidney(1)											160.0	135.0	143.0					14																	73570019		2201	4299	6500	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.987G>T	14.37:g.73570019G>T	ENSP00000261973:p.Arg329Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353466	0.24512	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.39997	1.05;1.05	5.35	5.35	0.76521	.	0.179987	0.53938	D	0.000049	T	0.31513	0.0799	L	0.43923	1.385	0.80722	D	1	B	0.20261	0.043	B	0.19666	0.026	T	0.09997	-1.0649	10	0.14252	T	0.57	.	8.9947	0.36045	0.1326:0.0:0.8674:0.0	.	329	P49756	RBM25_HUMAN	S	329	ENSP00000261973:R329S;ENSP00000431150:R329S	ENSP00000261973:R329S	R	+	3	2	RBM25	72639772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.486000	0.73629	2.665000	0.90641	0.591000	0.81541	AGG		0.502	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1		XM_027330	
TRPC7	57113	broad.mit.edu	37	5	135561876	135561879	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-BP-5191-01A-01D-1429-08	TCGA-BP-5191-11A-01D-1429-08	CTTC	CTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64dd8a08-483e-4dce-90b0-64a751fdbebd	326c2936-1793-4fca-bf83-30d569ebcc07	g.chr5:135561876_135561879delCTTC	ENST00000513104.1	-	9	2387_2390	c.2105_2108delGAAG	c.(2104-2109)ggaagafs	p.GR702fs	TRPC7_ENST00000426057.2_Frame_Shift_Del_p.GR586fs|TRPC7_ENST00000355180.3_Frame_Shift_Del_p.GR641fs	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	702					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTAGAGTTCTTCCTTCATCAAA	0.412																																																	0																																										SO:0001589	frameshift_variant	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2105_2108delGAAG	5.37:g.135561880_135561883delCTTC	ENSP00000426070:p.Gly702fs	Somatic		WXS	Illumina GAIIx	Phase_I	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Frame_Shift_Del	DEL	ENST00000513104.1	37	CCDS47267.2																																																																																				0.412	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1		NM_020389	
