#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
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1051287	1051287	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:1051287C>G	ENST00000263094.6	+	20	3049	c.2818C>G	c.(2818-2820)Ctc>Gtc	p.L940V	ABCA7_ENST00000433129.1_Missense_Mutation_p.L940V|ABCA7_ENST00000435683.2_Missense_Mutation_p.L802V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	940	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L940V(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GACTCGCCACCTCTCTGGTGA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											47.0	45.0	45.0					19																	1051287		2195	4288	6483	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2818C>G	19.37:g.1051287C>G	ENSP00000263094:p.Leu940Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992585	0.74703	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97232	-4.3;-4.3	4.49	4.49	0.54785	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.98698	0.9563	M	0.92219	3.285	0.41148	D	0.986007	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.99869	1.1094	9	0.87932	D	0	.	14.6452	0.68756	0.0:1.0:0.0:0.0	.	802;940	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	V	940	ENSP00000263094:L940V;ENSP00000414062:L940V	ENSP00000263094:L940V	L	+	1	0	ABCA7	1002287	1.000000	0.71417	0.977000	0.42913	0.846000	0.48090	7.135000	0.77276	2.050000	0.60909	0.455000	0.32223	CTC		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1		NM_019112	
ACTN1	87	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	69349271	69349271	+	Silent	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:69349271C>G	ENST00000193403.6	-	16	2240	c.1857G>C	c.(1855-1857)acG>acC	p.T619T	ACTN1_ENST00000394419.4_Silent_p.T619T|ACTN1_ENST00000438964.2_Silent_p.T619T|ACTN1_ENST00000538545.2_Silent_p.T619T|ACTN1_ENST00000376839.3_Silent_p.T554T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	619	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.T619T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CATGCTCCTCCGTCAGAGCTT	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	56.0	65.0					14																	69349271		2203	4300	6503	SO:0001819	synonymous_variant	87			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1857G>C	14.37:g.69349271C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.771|8.771	0.925913|0.925913	0.18056|0.18056	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000555075	.|.	.|.	.|.	5.5|5.5	-8.2|-8.2	0.01045|0.01045	.|.	.|.	.|.	.|.	.|.	T|T	0.57431|0.57431	0.2053|0.2053	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64028|0.64028	-0.6503|-0.6503	4|4	.|.	.|.	.|.	.|.	12.3884|12.3884	0.55345|0.55345	0.0:0.2294:0.0946:0.676|0.0:0.2294:0.0946:0.676	.|.	.|.	.|.	.|.	R|P	59|5	.|.	.|.	G|R	-|-	1|2	0|0	ACTN1|ACTN1	68419024|68419024	0.000000|0.000000	0.05858|0.05858	0.096000|0.096000	0.21009|0.21009	0.938000|0.938000	0.57974|0.57974	-2.253000|-2.253000	0.01184|0.01184	-2.315000|-2.315000	0.00646|0.00646	-0.786000|-0.786000	0.03341|0.03341	GGA|CGG		0.607	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3		NM_001102	
ADAMTS9	56999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	64589693	64589693	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:64589693C>T	ENST00000498707.1	-	25	3994	c.3652G>A	c.(3652-3654)Gac>Aac	p.D1218N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1190N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1218	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1218N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCACTCTCGTCAGCCACAGAG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											111.0	104.0	107.0					3																	64589693		2203	4300	6503	SO:0001583	missense	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3652G>A	3.37:g.64589693C>T	ENSP00000418735:p.Asp1218Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770642	0.49680	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.61158	0.13;0.13	5.22	5.22	0.72569	.	0.064453	0.64402	D	0.000011	T	0.59155	0.2173	L	0.47190	1.495	0.80722	D	1	P;B;P	0.35944	0.529;0.198;0.496	B;B;B	0.44163	0.443;0.081;0.33	T	0.61855	-0.6977	10	0.62326	D	0.03	.	14.2271	0.65868	0.0:0.9266:0.0:0.0734	.	1190;1218;1218	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	N	1190;1218	ENSP00000295903:D1190N;ENSP00000418735:D1218N	ENSP00000295903:D1190N	D	-	1	0	ADAMTS9	64564733	0.998000	0.40836	0.971000	0.41717	0.268000	0.26511	4.521000	0.60532	2.721000	0.93114	0.650000	0.86243	GAC		0.537	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			
ADHFE1	137872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67357547	67357547	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:67357547delA	ENST00000396623.3	+	6	479	c.448delA	c.(448-450)aatfs	p.N150fs	ADHFE1_ENST00000415254.1_Frame_Shift_Del_p.N102fs|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Frame_Shift_Del_p.N150fs	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	150					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TAAGGCTGCTAATCTGTATGC	0.493																																																	0													239.0	204.0	216.0					8																	67357547		2203	4300	6503	SO:0001589	frameshift_variant	137872			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.448delA	8.37:g.67357547delA	ENSP00000379865:p.Asn150fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Frame_Shift_Del	DEL	ENST00000396623.3	37	CCDS6190.2																																																																																				0.493	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3		NM_144650	
ALMS1	7840	hgsc.bcm.edu;ucsc.edu	37	2	73717436	73717437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:73717436_73717437insA	ENST00000264448.6	+	10	8458_8459	c.8347_8348insA	c.(8347-8349)gaafs	p.E2783fs	ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.E2741fs|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2783					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAAGATAAAGAAGTGACTATT	0.332																																																	0																																										SO:0001589	frameshift_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8349dupA	2.37:g.73717438_73717438dupA	ENSP00000264448:p.Glu2783fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Ins	INS	ENST00000264448.6	37	CCDS42697.1																																																																																				0.332	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
GPR75-ASB3	100302652	hgsc.bcm.edu;ucsc.edu	37	2	53956692	53956697	+	In_Frame_Del	DEL	TGTCCA	TGTCCA	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	TGTCCA	TGTCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:53956692_53956697delTGTCCA	ENST00000263634.3	-	4	500_505	c.366_371delTGGACA	c.(364-372)aatggacag>aag	p.122_124NGQ>K	GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_In_Frame_Del_p.49_51NGQ>K|ASB3_ENST00000406625.2_In_Frame_Del_p.157_159NGQ>K|GPR75-ASB3_ENST00000406687.1_In_Frame_Del_p.49_51NGQ>K|GPR75-ASB3_ENST00000352846.3_In_Frame_Del_p.160_162NGQ>K|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		CACATCTATCTGTCCATTTTCAACAG	0.408																																																	0																																										SO:0001651	inframe_deletion	51130				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.366_371delTGGACA	2.37:g.53956692_53956697delTGTCCA	ENSP00000263634:p.Asn122_Gln124delinsLys	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000263634.3	37	CCDS1846.1																																																																																				0.408	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			
ATAD1	84896	broad.mit.edu;hgsc.bcm.edu	37	10	89550085	89550085	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr10:89550085G>T	ENST00000308448.7	-	4	742	c.364C>A	c.(364-366)Ctt>Att	p.L122I	ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Missense_Mutation_p.L122I|ATAD1_ENST00000541004.1_Missense_Mutation_p.L122I|ATAD1_ENST00000400215.3_Missense_Mutation_p.L64I	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	122					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L122I(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GGCTGCAGAAGCCTGGAATTC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											103.0	98.0	100.0					10																	89550085		2202	4300	6502	SO:0001583	missense	84896			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.364C>A	10.37:g.89550085G>T	ENSP00000339017:p.Leu122Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757855	0.89843	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.96685	-3.62;-3.62;-4.09;-3.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96789	0.9581	9	.	.	.	-18.3125	19.5396	0.95268	0.0:0.0:1.0:0.0	.	64;122	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	I	122;122;64;122	ENSP00000339017:L122I;ENSP00000339016:L122I;ENSP00000412968:L64I;ENSP00000445500:L122I	.	L	-	1	0	ATAD1	89540065	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.609000	0.82925	2.690000	0.91761	0.563000	0.77884	CTT		0.353	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1		NM_032810	
ATP8A2	51761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26104186	26104186	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr13:26104186C>G	ENST00000381655.2	+	3	413	c.271C>G	c.(271-273)Cag>Gag	p.Q91E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Q51E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	51					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q91E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTGTATGAGCAGATTAGAAG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											194.0	180.0	184.0					13																	26104186		1868	4102	5970	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.271C>G	13.37:g.26104186C>G	ENSP00000371070:p.Gln91Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448700	0.84101	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000381648	D;D	0.84516	-1.86;-1.86	4.9	4.9	0.64082	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.282341	0.37715	N	0.001967	D	0.92319	0.7563	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.92327	0.5870	10	0.49607	T	0.09	.	18.2687	0.90060	0.0:1.0:0.0:0.0	.	51;51;51	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	E	91;51;51	ENSP00000371070:Q91E;ENSP00000255283:Q51E	ENSP00000255283:Q51E	Q	+	1	0	ATP8A2	25002186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.532000	0.85374	0.643000	0.83706	CAG		0.338	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2		NM_016529	
BTBD7	55727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93709191	93709191	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:93709191G>C	ENST00000334746.5	-	11	3134	c.2827C>G	c.(2827-2829)Ccg>Gcg	p.P943A	BTBD7_ENST00000554565.1_Missense_Mutation_p.P592A|BTBD7_ENST00000393170.2_Missense_Mutation_p.P517A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	943					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.P943A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TAGAAATCCGGATATTCCTGT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											192.0	181.0	185.0					14																	93709191		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2827C>G	14.37:g.93709191G>C	ENSP00000335615:p.Pro943Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318868	0.81469	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.51325	1.05;0.71	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.56123	-0.8031	10	0.40728	T	0.16	.	20.27	0.98469	0.0:0.0:1.0:0.0	.	517;592;943	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	A	943;592;558;517	ENSP00000335615:P943A;ENSP00000451010:P592A	ENSP00000335615:P943A	P	-	1	0	BTBD7	92778944	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.843000	0.92142	2.804000	0.96469	0.655000	0.94253	CCG		0.473	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860	
CEACAM4	1089	hgsc.bcm.edu;ucsc.edu	37	19	42132122	42132123	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:42132122_42132123delCC	ENST00000221954.2	-	2	386_387	c.276_277delGG	c.(274-279)ggggccfs	p.A94fs	CEACAM4_ENST00000600925.1_Frame_Shift_Del_p.A94fs	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CTGTATGCGGCCCCTGGGATAT	0.485																																																	0																																										SO:0001589	frameshift_variant	1089			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.276_277delGG	19.37:g.42132124_42132125delCC	ENSP00000221954:p.Ala94fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q03715|Q7LDZ7	Frame_Shift_Del	DEL	ENST00000221954.2	37	CCDS33033.1																																																																																				0.485	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1		NM_001817	
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94059617	94059617	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr7:94059617G>A	ENST00000297268.6	+	52	4484	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1338	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.			R -> A (in Ref. 23; AAA51887). {ECO:0000305}.	blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.R1338H(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGCCATCACGCCTGCCCTTC	0.383										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	kidney(1)											225.0	213.0	217.0					7																	94059617		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.4013G>A	7.37:g.94059617G>A	ENSP00000297268:p.Arg1338His	Somatic		WXS	Illumina HiSeq	Phase_I	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870641	0.72065	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.76060	-0.99	5.35	5.35	0.76521	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89268	0.3602	10	0.87932	D	0	.	19.9544	0.97215	0.0:0.0:1.0:0.0	.	190;1338	B4DTF5;P08123	.;CO1A2_HUMAN	H	1338;1339	ENSP00000297268:R1338H	ENSP00000297268:R1338H	R	+	2	0	COL1A2	93897553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CGC		0.383	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089	
CPEB4	80315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	173372085	173372085	+	Silent	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:173372085A>G	ENST00000265085.5	+	5	2852	c.1398A>G	c.(1396-1398)agA>agG	p.R466R	CPEB4_ENST00000522336.1_Silent_p.R76R|CPEB4_ENST00000519835.1_Silent_p.R441R|CPEB4_ENST00000520867.1_Silent_p.R441R|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Silent_p.R449R|CPEB4_ENST00000517880.1_Silent_p.R59R	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	466					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R466R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGGGGAAAGAGTGGAACGAT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											175.0	156.0	162.0					5																	173372085		2203	4300	6503	SO:0001819	synonymous_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1398A>G	5.37:g.173372085A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497703	0.26861	.	.	ENSG00000113742	ENST00000519152	.	.	.	5.37	2.97	0.34412	.	.	.	.	.	T	0.45418	0.1341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30822	-0.9965	4	.	.	.	-15.7934	2.4319	0.04473	0.6201:0.1273:0.1299:0.1227	.	.	.	.	G	144	.	.	E	+	2	0	CPEB4	173304691	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.629000	0.24538	0.445000	0.26639	0.533000	0.62120	GAG		0.493	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2		NM_030627	
CTNND1	1500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57563067	57563067	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:57563067T>G	ENST00000399050.4	+	5	822	c.286T>G	c.(286-288)Tat>Gat	p.Y96D	CTNND1_ENST00000529986.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000529873.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000399039.4_Missense_Mutation_p.Y96D|CTNND1_ENST00000532649.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000530748.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000361796.4_Missense_Mutation_p.Y96D|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000534579.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000358694.6_Missense_Mutation_p.Y96D|CTNND1_ENST00000529526.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000532787.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000415361.2_De_novo_Start_OutOfFrame|CTNND1_ENST00000530094.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532245.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000526938.1_Missense_Mutation_p.Y96D|CTNND1_ENST00000526357.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000528621.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000360682.6_Missense_Mutation_p.Y96D|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000528232.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000524630.1_Missense_Mutation_p.Y96D|CTNND1_ENST00000529919.1_Missense_Mutation_p.Y96D|CTNND1_ENST00000426142.2_De_novo_Start_OutOfFrame|CTNND1_ENST00000361332.4_Missense_Mutation_p.Y96D|CTNND1_ENST00000532844.1_Missense_Mutation_p.Y42D|CTNND1_ENST00000532463.1_De_novo_Start_OutOfFrame|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.Y96D|CTNND1_ENST00000361391.6_Missense_Mutation_p.Y96D	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	96					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.Y96D(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCACCTTCTATATAGCACCAT	0.463																																																	2	Substitution - Missense(2)	kidney(2)											46.0	50.0	49.0					11																	57563067		1921	4118	6039	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.286T>G	11.37:g.57563067T>G	ENSP00000382004:p.Tyr96Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091895	0.36952	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000358694;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000534579;ENST00000526938;ENST00000530068;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71817	1.68;1.68;1.68;1.68;1.68;-0.23;1.68;1.68;1.68;1.68;-0.23;-0.23;-0.24;1.68;-0.6;-0.25;-0.25;-0.23;1.68;1.68;2.2	5.8	5.8	0.92144	.	0.317275	0.31821	N	0.007008	T	0.59224	0.2178	N	0.22421	0.69	0.47476	D	0.999436	P;P;P;P;B;P;P	0.50528	0.936;0.936;0.895;0.833;0.218;0.936;0.895	P;P;B;P;B;P;B	0.47864	0.559;0.559;0.356;0.559;0.117;0.559;0.356	T	0.56111	-0.8033	10	0.13470	T	0.59	-8.4024	10.2115	0.43143	0.0:0.0746:0.0:0.9254	.	96;96;96;42;96;96;96	O60716-3;O60716-2;O60716;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.	D	96;96;96;96;96;42;96;96;96;96;42;42;42;96;42;42;42;42;96;42;18	ENSP00000436543:Y96D;ENSP00000434808:Y96D;ENSP00000381996:Y96D;ENSP00000353902:Y96D;ENSP00000354907:Y96D;ENSP00000436323:Y42D;ENSP00000382004:Y96D;ENSP00000354785:Y96D;ENSP00000354823:Y96D;ENSP00000351527:Y96D;ENSP00000435379:Y42D;ENSP00000432243:Y42D;ENSP00000436744:Y42D;ENSP00000413586:Y96D;ENSP00000435494:Y42D;ENSP00000433276:Y42D;ENSP00000433334:Y42D;ENSP00000435789:Y42D;ENSP00000432041:Y96D;ENSP00000431600:Y42D;ENSP00000434202:Y18D	ENSP00000351527:Y96D	Y	+	1	0	CTNND1	57319643	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.915000	0.56409	2.220000	0.72140	0.383000	0.25322	TAT		0.463	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1		NM_001331	
FHOD1	29109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67264329	67264329	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr16:67264329A>G	ENST00000258201.4	-	19	3186	c.2939T>C	c.(2938-2940)cTg>cCg	p.L980P		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	980	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.L980P(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAATTCCCGCAGCGTGTGGCA	0.617																																																	1	Substitution - Missense(1)	kidney(1)											99.0	92.0	94.0					16																	67264329		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2939T>C	16.37:g.67264329A>G	ENSP00000258201:p.Leu980Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624920	0.66901	.	.	ENSG00000135723	ENST00000258201	T	0.25912	1.77	5.76	5.76	0.90799	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.063695	0.64402	D	0.000011	T	0.44746	0.1308	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.38457	-0.9660	10	0.87932	D	0	.	13.4431	0.61125	1.0:0.0:0.0:0.0	.	980	Q9Y613	FHOD1_HUMAN	P	980	ENSP00000258201:L980P	ENSP00000258201:L980P	L	-	2	0	FHOD1	65821830	1.000000	0.71417	0.967000	0.41034	0.601000	0.36947	9.090000	0.94144	2.200000	0.70718	0.459000	0.35465	CTG		0.617	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			
GCNT1	2650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79118325	79118325	+	Missense_Mutation	SNP	A	A	G	rs373409583		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:79118325A>G	ENST00000376730.4	+	4	1511	c.1028A>G	c.(1027-1029)gAt>gGt	p.D343G	GCNT1_ENST00000442371.1_Missense_Mutation_p.D343G|GCNT1_ENST00000536223.1_Missense_Mutation_p.D343G|GCNT1_ENST00000444201.2_Missense_Mutation_p.D343G	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	343	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.D343G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CATAAGTATGATCTGTCTGAC	0.542																																																	1	Substitution - Missense(1)	kidney(1)						A	GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP	0,4406		0,0,2203	83.0	77.0	79.0		1028,1028,1028,1028,1028	6.2	1.0	9		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	GCNT1	NM_001097633.1,NM_001097634.1,NM_001097635.1,NM_001097636.1,NM_001490.4	94,94,94,94,94	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	343/429,343/429,343/429,343/429,343/429	79118325	1,13005	2203	4300	6503	SO:0001583	missense	2650			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.1028A>G	9.37:g.79118325A>G	ENSP00000365920:p.Asp343Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	19.49	3.836647	0.71373	0.0	1.16E-4	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.14727	-1.0462	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	343	Q02742	GCNT1_HUMAN	G	343	ENSP00000440883:D343G;ENSP00000415454:D343G;ENSP00000390703:D343G;ENSP00000365920:D343G	.	D	+	2	0	GCNT1	78308145	1.000000	0.71417	0.982000	0.44146	0.499000	0.33736	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAT		0.542	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1		NM_001097634	
GPC4	2239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132437029	132437029	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chrX:132437029A>C	ENST00000370828.3	-	9	2061	c.1537T>G	c.(1537-1539)Tac>Gac	p.Y513D	GPC4_ENST00000535467.1_Missense_Mutation_p.Y443D	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	513					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y513D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTGGCATTGTAGTCAAACTCT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											257.0	220.0	232.0					X																	132437029		2203	4300	6503	SO:0001583	missense	2239			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1537T>G	X.37:g.132437029A>C	ENSP00000359864:p.Tyr513Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	a	5.637	0.302129	0.10678	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.49720	0.77;0.77	5.63	4.43	0.53597	.	0.412949	0.28354	N	0.015645	T	0.28962	0.0719	N	0.08118	0	0.30401	N	0.780061	B	0.31625	0.332	B	0.34242	0.178	T	0.21930	-1.0231	10	0.37606	T	0.19	-23.6384	11.0598	0.47940	0.8466:0.1534:0.0:0.0	.	513	O75487	GPC4_HUMAN	D	513;507;443	ENSP00000359864:Y513D;ENSP00000444959:Y443D	ENSP00000359864:Y513D	Y	-	1	0	GPC4	132264695	0.112000	0.22096	0.216000	0.23742	0.022000	0.10575	1.089000	0.30890	0.721000	0.32231	0.483000	0.47432	TAC		0.478	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1		NM_001448	
GPX8	493869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54456928	54456928	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:54456928T>G	ENST00000503787.1	+	2	386	c.311T>G	c.(310-312)tTg>tGg	p.L104W	CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.L53W|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000322374.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	104					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.L104*(1)|p.L104W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TTCAGCGTGTTGGCTTTTCCC	0.473																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|kidney(1)											89.0	85.0	86.0					5																	54456928		2203	4300	6503	SO:0001583	missense	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.311T>G	5.37:g.54456928T>G	ENSP00000423822:p.Leu104Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.850726	0.91277	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.10192	2.9;2.9	5.47	5.47	0.80525	Thioredoxin-like fold (2);	0.142967	0.48286	D	0.000183	T	0.53433	0.1796	H	0.99312	4.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75113	-0.3432	10	0.87932	D	0	.	15.5604	0.76240	0.0:0.0:0.0:1.0	.	53;104	E7ETY7;Q8TED1	.;GPX8_HUMAN	W	104;53	ENSP00000423822:L104W;ENSP00000427466:L53W	ENSP00000423822:L104W	L	+	2	0	GPX8	54492685	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.691000	0.84191	2.081000	0.62600	0.533000	0.62120	TTG		0.473	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1		NM_001008397	
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89941846	89941846	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:89941846T>G	ENST00000405460.2	+	16	3056	c.2960T>G	c.(2959-2961)gTg>gGg	p.V987G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	987					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V987G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGCTAAAGTGGGAAATAGA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											108.0	104.0	105.0					5																	89941846		1838	4092	5930	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2960T>G	5.37:g.89941846T>G	ENSP00000384582:p.Val987Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.98|11.98	1.799707|1.799707	0.31869|0.31869	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.28666	.|1.6	5.29|5.29	4.13|4.13	0.48395|0.48395	.|.	.|0.544912	.|0.21180	.|N	.|0.078822	T|T	0.23926|0.23926	0.0579|0.0579	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|P	.|0.37176	.|0.586	.|B	.|0.31191	.|0.125	T|T	0.04242|0.04242	-1.0966|-1.0966	5|10	.|0.72032	.|D	.|0.01	.|.	10.5128|10.5128	0.44872|0.44872	0.0:0.0778:0.0:0.9221|0.0:0.0778:0.0:0.9221	.|.	.|987	.|Q8WXG9	.|GPR98_HUMAN	R|G	575|987	.|ENSP00000384582:V987G	.|ENSP00000296619:V987G	S|V	+|+	3|2	2|0	GPR98|GPR98	89977602|89977602	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.122000|0.122000	0.20287|0.20287	4.937000|4.937000	0.63513|0.63513	0.965000|0.965000	0.38133|0.38133	0.477000|0.477000	0.44152|0.44152	AGT|GTG		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119	
HDGFL1	154150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	22569865	22569865	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:22569865G>T	ENST00000230012.3	+	1	188	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	HDGFL1_ENST00000510882.2_Missense_Mutation_p.G21C	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	21	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.							p.G21C(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					CAAGTTAAAGGGCTATGCCCA	0.607																																																	1	Substitution - Missense(1)	kidney(1)											70.0	73.0	72.0					6																	22569865		2203	4300	6503	SO:0001583	missense	154150			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.61G>T	6.37:g.22569865G>T	ENSP00000230012:p.Gly21Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96MJ6	Missense_Mutation	SNP	ENST00000230012.3	37	CCDS34347.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472233	0.63737	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.78126	-1.15;-1.15	3.94	3.06	0.35304	PWWP (3);	0.000000	0.64402	D	0.000001	D	0.89856	0.6836	H	0.97440	4.005	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.92236	0.5796	10	0.87932	D	0	-39.3353	11.9368	0.52878	0.0:0.1773:0.8227:0.0	.	21	Q5TGJ6	HDGL1_HUMAN	C	21	ENSP00000230012:G21C;ENSP00000442129:G21C	ENSP00000230012:G21C	G	+	1	0	HDGFL1	22677844	1.000000	0.71417	0.996000	0.52242	0.725000	0.41563	7.468000	0.80943	1.235000	0.43724	0.491000	0.48974	GGC		0.607	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1		NM_138574	
HSPB11	51668	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54405733	54405733	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:54405733A>T	ENST00000194214.5	-	2	412	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	HSPB11_ENST00000371377.3_Missense_Mutation_p.L8Q|HSPB11_ENST00000371378.2_Missense_Mutation_p.L8Q|HSPB11_ENST00000371376.1_Missense_Mutation_p.L8Q	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	8					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)	p.L8Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TTCAGAGCTCAGACAGAGATC	0.323																																																	1	Substitution - Missense(1)	kidney(1)											122.0	108.0	113.0					1																	54405733		1806	4076	5882	SO:0001583	missense	51668			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.23T>A	1.37:g.54405733A>T	ENSP00000194214:p.Leu8Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605147	0.66445	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.55	3.26	0.37387	Galactose-binding domain-like (1);	0.156920	0.43579	D	0.000555	T	0.78799	0.4340	L	0.58810	1.83	0.33558	D	0.596975	P;P	0.48640	0.595;0.913	B;P	0.48552	0.261;0.581	T	0.81870	-0.0734	10	0.62326	D	0.03	-16.6562	6.4595	0.21948	0.8084:0.0:0.1916:0.0	.	8;8	A6NIR2;Q9Y547	.;HSB11_HUMAN	Q	8	ENSP00000194214:L8Q;ENSP00000360429:L8Q;ENSP00000360428:L8Q;ENSP00000360427:L8Q	ENSP00000194214:L8Q	L	-	2	0	HSPB11	54178321	0.988000	0.35896	1.000000	0.80357	0.918000	0.54935	1.333000	0.33816	0.547000	0.28938	0.533000	0.62120	CTG		0.323	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1		NM_016126	
HTR3A	3359	hgsc.bcm.edu;ucsc.edu	37	11	113857420	113857420	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:113857420C>T	ENST00000504030.2	+	7	1331	c.886C>T	c.(886-888)Ccg>Tcg	p.P296S	HTR3A_ENST00000506841.2_Missense_Mutation_p.P296S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P40S|HTR3A_ENST00000299961.5_Missense_Mutation_p.P281S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P302S|HTR3A_ENST00000375498.2_Missense_Mutation_p.P302S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	296					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.P296S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TGACACGCTGCCGGCCACTGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											99.0	82.0	87.0					11																	113857420		2201	4296	6497	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.886C>T	11.37:g.113857420C>T	ENSP00000424189:p.Pro296Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.862840	0.91511	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8;-5.8	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98406	1.0570	10	0.87932	D	0	-28.3952	18.4412	0.90667	0.0:1.0:0.0:0.0	.	281;302;302	B4DSY6;G5E986;Q7KZM7	.;.;.	S	296;302;302;296;40;281	ENSP00000424189:P296S;ENSP00000347754:P302S;ENSP00000364648:P302S;ENSP00000424776:P296S;ENSP00000437776:P40S;ENSP00000299961:P281S	ENSP00000299961:P281S	P	+	1	0	HTR3A	113362630	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	7.776000	0.85560	2.421000	0.82119	0.561000	0.74099	CCG		0.602	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2		NM_000869	
ISL1	3670	hgsc.bcm.edu	37	5	50685624	50685624	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:50685624C>T	ENST00000230658.7	+	4	1208	c.623C>T	c.(622-624)gCg>gTg	p.A208V	ISL1_ENST00000511384.1_Missense_Mutation_p.A208V|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	208					atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|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 vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CGGCCAGATGCGCTCATGAAG	0.602																																																	0													64.0	75.0	71.0					5																	50685624		2203	4300	6503	SO:0001583	missense	3670			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.623C>T	5.37:g.50685624C>T	ENSP00000230658:p.Ala208Val	Somatic		WXS	Illumina HiSeq	Phase_I	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858240	0.91433	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.96365	-3.99;-3.99	5.73	5.73	0.89815	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	N	0.16862	0.45	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.97157	0.9835	10	0.72032	D	0.01	.	19.8842	0.96908	0.0:1.0:0.0:0.0	.	208	P61371	ISL1_HUMAN	V	208	ENSP00000230658:A208V;ENSP00000422676:A208V	ENSP00000230658:A208V	A	+	2	0	ISL1	50721381	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	7.726000	0.84824	2.689000	0.91719	0.585000	0.79938	GCG		0.602	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3		NM_002202	
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68596122	68596122	+	Silent	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr15:68596122C>T	ENST00000315757.7	-	29	3569	c.3483G>A	c.(3481-3483)ctG>ctA	p.L1161L	ITGA11_ENST00000423218.2_Silent_p.L1162L|RP11-709B3.2_ENST00000569808.1_lincRNA	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1161	Poly-Leu.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.L1161L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TCCACAGTGCCAGGACCAGCA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	43.0	41.0					15																	68596122		1919	4132	6051	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3483G>A	15.37:g.68596122C>T		Somatic		WXS	Illumina HiSeq	Phase_I	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.652	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211	
KHNYN	23351	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24901665	24901665	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:24901665T>A	ENST00000251343.5	+	3	1337	c.1198T>A	c.(1198-1200)Tgg>Agg	p.W400R	KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.W400R|KHNYN_ENST00000556842.1_Missense_Mutation_p.W400R|CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	400							RNA binding (GO:0003723)	p.W400R(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGGGCCTCAATGGAAACGAGG	0.657											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											18.0	20.0	19.0					14																	24901665		2195	4287	6482	SO:0001583	missense	23351			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1198T>A	14.37:g.24901665T>A	ENSP00000251343:p.Trp400Arg	Somatic	774	WXS	Illumina HiSeq	Phase_I	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	T	0.593	-0.832200	0.02713	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.22134	1.97;1.97;1.97	4.61	-1.28	0.09318	.	0.621206	0.16453	N	0.213747	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	0.999999	P;B	0.38335	0.627;0.007	B;B	0.28553	0.091;0.002	T	0.37314	-0.9711	10	0.15952	T	0.53	.	8.3816	0.32474	0.1406:0.0:0.5752:0.2842	.	441;400	D3DS77;O15037	.;KHNYN_HUMAN	R	400	ENSP00000251343:W400R;ENSP00000451106:W400R;ENSP00000450799:W400R	ENSP00000251343:W400R	W	+	1	0	KHNYN	23971505	0.123000	0.22298	0.138000	0.22173	0.316000	0.28119	0.070000	0.14573	0.015000	0.14971	0.379000	0.24179	TGG		0.657	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91528517	91528517	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr10:91528517A>C	ENST00000371728.3	+	31	5179	c.5114A>C	c.(5113-5115)aAg>aCg	p.K1705T	KIF20B_ENST00000416354.1_Missense_Mutation_p.K1735T|KIF20B_ENST00000260753.4_Missense_Mutation_p.K1665T|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1705	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.K1665T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCATCATCTAAGAAAACATAT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					10																	91528517		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5114A>C	10.37:g.91528517A>C	ENSP00000360793:p.Lys1705Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	A	16.36	3.102009	0.56183	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.39997	1.05;1.05;1.05	5.7	3.28	0.37604	.	0.000000	0.53938	D	0.000046	T	0.47414	0.1444	L	0.60455	1.87	0.80722	D	1	D;D	0.58970	0.964;0.984	P;P	0.55161	0.522;0.77	T	0.37979	-0.9682	10	0.38643	T	0.18	-9.3784	6.9674	0.24631	0.7728:0.1481:0.0791:0.0	.	1705;1665	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	T	1665;1735;1705	ENSP00000260753:K1665T;ENSP00000411545:K1735T;ENSP00000360793:K1705T	ENSP00000260753:K1665T	K	+	2	0	KIF20B	91518497	1.000000	0.71417	0.981000	0.43875	0.733000	0.41908	1.840000	0.39230	0.940000	0.37473	0.454000	0.30748	AAG		0.348	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195	
LAMA4	3910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	112471821	112471821	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:112471821C>T	ENST00000230538.7	-	17	2462	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E682K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E682K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E682K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	689	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.E682K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACTGCTTCATCACTGCCT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											125.0	110.0	115.0					6																	112471821		2203	4300	6503	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2065G>A	6.37:g.112471821C>T	ENSP00000230538:p.Glu689Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501790	0.12822	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13538	2.59;2.58;2.58;2.58	4.84	3.93	0.45458	.	0.508865	0.21575	N	0.072343	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.23442	0.085;0.058	B;B	0.22601	0.026;0.04	T	0.43180	-0.9407	10	0.10111	T	0.7	.	7.282	0.26316	0.1924:0.6255:0.1821:0.0	.	689;682	Q16363;Q16363-2	LAMA4_HUMAN;.	K	689;682;682;682	ENSP00000230538:E689K;ENSP00000429488:E682K;ENSP00000374114:E682K;ENSP00000416470:E682K	ENSP00000230538:E689K	E	-	1	0	LAMA4	112578514	0.845000	0.29573	0.085000	0.20634	0.876000	0.50452	2.260000	0.43267	2.516000	0.84829	0.655000	0.94253	GAA		0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206	
CERS4	79603	hgsc.bcm.edu;ucsc.edu	37	19	8322833	8322835	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:8322833_8322835delTCT	ENST00000251363.5	+	10	1112_1114	c.812_814delTCT	c.(811-816)gtcttc>gtc	p.F273del	CERS4_ENST00000558331.1_In_Frame_Del_p.F222del|CERS4_ENST00000559336.1_Intron|CERS4_ENST00000559450.1_In_Frame_Del_p.F273del|CERS4_ENST00000595722.1_3'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	273	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTCTCCTTTGTCTTCTTCTACAC	0.567																																																	0																																										SO:0001651	inframe_deletion	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.812_814delTCT	19.37:g.8322839_8322841delTCT	ENSP00000251363:p.Phe273del	Somatic		WXS	Illumina HiSeq	Phase_I	D6W665	In_Frame_Del	DEL	ENST00000251363.5	37	CCDS12197.1																																																																																				0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1		NM_024552	
LPHN2	23266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	82408996	82408996	+	Silent	SNP	T	T	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:82408996T>C	ENST00000370728.1	+	8	1386	c.741T>C	c.(739-741)taT>taC	p.Y247Y	LPHN2_ENST00000319517.6_Silent_p.Y247Y|LPHN2_ENST00000271029.4_Silent_p.Y247Y|LPHN2_ENST00000370725.1_Silent_p.Y247Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.Y247Y|LPHN2_ENST00000394879.1_Silent_p.Y247Y|LPHN2_ENST00000370721.1_Silent_p.Y251Y|LPHN2_ENST00000370715.1_Silent_p.Y247Y|LPHN2_ENST00000359929.3_Silent_p.Y247Y|LPHN2_ENST00000370723.1_Silent_p.Y247Y|LPHN2_ENST00000335786.5_Silent_p.Y247Y|LPHN2_ENST00000370717.2_Silent_p.Y247Y|LPHN2_ENST00000370727.1_Silent_p.Y247Y|LPHN2_ENST00000370713.1_Silent_p.Y247Y			O95490	LPHN2_HUMAN	latrophilin 2	247	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.Y247Y(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATTAACTATGCCAACTACC	0.403																																																	2	Substitution - coding silent(2)	kidney(2)											124.0	122.0	122.0					1																	82408996		2203	4299	6502	SO:0001819	synonymous_variant	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.741T>C	1.37:g.82408996T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	3.441	-0.114101	0.06881	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.63	3.23	0.37069	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44081	-0.9351	4	.	.	.	.	10.4287	0.44393	0.0:0.1359:0.0:0.8641	.	.	.	.	T	115	.	.	M	+	2	0	LPHN2	82181584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.601000	0.36773	0.923000	0.37045	0.374000	0.22700	ATG		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302	
LRRIQ3	127255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	74575231	74575231	+	Silent	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:74575231C>T	ENST00000395089.1	-	4	713	c.714G>A	c.(712-714)gtG>gtA	p.V238V	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Silent_p.V238V|LRRIQ3_ENST00000370909.2_Silent_p.V130V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	238	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.V238V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTGGAAAAACACAGGGCTGA	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	90.0	94.0					1																	74575231		1784	4051	5835	SO:0001819	synonymous_variant	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.714G>A	1.37:g.74575231C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	CCDS41350.1																																																																																				0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258	
LRIG2	9860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113657274	113657274	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:113657274C>G	ENST00000361127.5	+	15	2504	c.2306C>G	c.(2305-2307)tCt>tGt	p.S769C	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	769	Ig-like C2-type 3.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S769C(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCATTATGTCTAACACCCTT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											176.0	156.0	163.0					1																	113657274		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2306C>G	1.37:g.113657274C>G	ENSP00000355396:p.Ser769Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396533	0.83011	.	.	ENSG00000198799	ENST00000361127	T	0.68765	-0.35	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.67700	2.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.80204	-0.1479	10	0.72032	D	0.01	.	19.1506	0.93487	0.0:1.0:0.0:0.0	.	769	O94898	LRIG2_HUMAN	C	769	ENSP00000355396:S769C	ENSP00000355396:S769C	S	+	2	0	LRIG2	113458797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.510000	0.84645	0.561000	0.74099	TCT		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813	
MAST3	23031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18254635	18254635	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:18254635G>T	ENST00000262811.6	+	21	2315	c.2315G>T	c.(2314-2316)gGt>gTt	p.G772V	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	772							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G794V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCGAGCGGGGTCCCAGCCCA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											35.0	39.0	38.0					19																	18254635		1991	4166	6157	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2315G>T	19.37:g.18254635G>T	ENSP00000262811:p.Gly772Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784813	0.31593	.	.	ENSG00000099308	ENST00000262811	T	0.66280	-0.2	4.82	4.82	0.62117	.	0.434074	0.26065	N	0.026541	T	0.51058	0.1652	L	0.34521	1.04	0.58432	D	0.999999	B	0.33022	0.394	B	0.27380	0.079	T	0.53049	-0.8493	10	0.40728	T	0.16	-29.8014	16.8614	0.86019	0.0:0.0:1.0:0.0	.	772	O60307	MAST3_HUMAN	V	772	ENSP00000262811:G772V	ENSP00000262811:G772V	G	+	2	0	MAST3	18115635	1.000000	0.71417	0.998000	0.56505	0.477000	0.33069	5.362000	0.66098	2.235000	0.73313	0.491000	0.48974	GGT		0.622	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150	
MBOAT2	129642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	9048798	9048798	+	Silent	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:9048798A>C	ENST00000305997.3	-	4	546	c.348T>G	c.(346-348)acT>acG	p.T116T	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	116					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T116T(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATAGACTCGAGTAACTTGGC	0.353																																					Ovarian(194;1699 3813 22401)												1	Substitution - coding silent(1)	kidney(1)											80.0	75.0	77.0					2																	9048798		2203	4300	6503	SO:0001819	synonymous_variant	129642			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.348T>G	2.37:g.9048798A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	CCDS1660.1																																																																																				0.353	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1		NM_138799	
MCM4	4173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48874107	48874107	+	Silent	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:48874107T>A	ENST00000262105.2	+	2	311	c.102T>A	c.(100-102)tcT>tcA	p.S34S	PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank|PRKDC_ENST00000338368.3_5'Flank|MCM4_ENST00000523944.1_Silent_p.S34S	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	34					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.S34S(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCTCCCTCTCAGAGACGTA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	77.0	77.0					8																	48874107		2203	4300	6503	SO:0001819	synonymous_variant	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.102T>A	8.37:g.48874107T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	T	3.180	-0.168174	0.06461	.	.	ENSG00000104738	ENST00000429229	.	.	.	5.55	-3.04	0.05412	.	.	.	.	.	T	0.39384	0.1076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35475	-0.9787	5	0.28530	T	0.3	-0.4475	2.5281	0.04696	0.0997:0.2506:0.335:0.3146	.	.	.	.	H	7	.	ENSP00000400689:L7H	L	+	2	0	MCM4	49036660	0.000000	0.05858	0.026000	0.17262	0.090000	0.18270	-2.333000	0.01108	-0.159000	0.11021	-0.379000	0.06801	CTC		0.577	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1		NM_005914	
ASTE1	28990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130748629	130748629	+	5'Flank	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:130748629C>G	ENST00000264992.3	-	0	0				NEK11_ENST00000510769.1_Missense_Mutation_p.A26G|NEK11_ENST00000510688.1_Missense_Mutation_p.A26G|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.A26G|NEK11_ENST00000429253.2_Missense_Mutation_p.A26G|NEK11_ENST00000508196.1_Missense_Mutation_p.A26G|NEK11_ENST00000507910.1_Missense_Mutation_p.A26G|NEK11_ENST00000383366.4_Missense_Mutation_p.A26G|ASTE1_ENST00000514044.1_5'Flank|NEK11_ENST00000511262.1_Missense_Mutation_p.A26G	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)						DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.A26G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACCTTGATTGCAAGAAGATAC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											138.0	130.0	133.0					3																	130748629		2203	4300	6503	SO:0001631	upstream_gene_variant	79858			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644		3.37:g.130748629C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051067	0.75960	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.000000	0.52532	D	0.000078	T	0.52306	0.1726	N	0.17872	0.535	0.80722	D	1	P;D;P;P;P	0.89917	0.649;1.0;0.94;0.819;0.649	B;D;P;B;B	0.85130	0.439;0.997;0.535;0.334;0.359	T	0.52011	-0.8632	10	0.41790	T	0.15	.	19.7362	0.96205	0.0:1.0:0.0:0.0	.	26;26;26;26;26	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	G	26	ENSP00000421549:A26G;ENSP00000397180:A26G;ENSP00000349389:A26G;ENSP00000423458:A26G;ENSP00000425114:A26G;ENSP00000372857:A26G;ENSP00000426662:A26G;ENSP00000421851:A26G	ENSP00000349389:A26G	A	+	2	0	NEK11	132231319	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.560000	0.67332	2.678000	0.91216	0.655000	0.94253	GCA		0.423	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1		NM_014065	
NLRP6	171389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	281411	281411	+	Silent	SNP	C	C	T	rs199706714		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:281411C>T	ENST00000312165.5	+	4	1677	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	NLRP6_ENST00000534750.1_Silent_p.I559I	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	559					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.I559I(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)		TGCGCGACATCGAGCGCCACT	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		19626	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											17.0	19.0	18.0					11																	281411		2201	4298	6499	SO:0001819	synonymous_variant	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.1677C>T	11.37:g.281411C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																				0.677	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1		NM_138329	
NOS2	4843	broad.mit.edu;hgsc.bcm.edu	37	17	26086097	26086097	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:26086097T>C	ENST00000313735.6	-	26	3397	c.3164A>G	c.(3163-3165)tAt>tGt	p.Y1055C		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1055					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Y1055C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GTCCTGAACATAGACCTGAAA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											18.0	17.0	17.0					17																	26086097		2198	4300	6498	SO:0001583	missense	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3164A>G	17.37:g.26086097T>C	ENSP00000327251:p.Tyr1055Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743393	0.69418	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	D	0.82081	-1.57	4.34	4.34	0.51931	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.167110	0.40385	N	0.001106	D	0.94656	0.8277	H	0.99238	4.48	0.54753	D	0.999981	D	0.89917	1.0	D	0.77004	0.989	D	0.96248	0.9181	10	0.87932	D	0	.	13.0116	0.58733	0.0:0.0:0.0:1.0	.	1055	P35228	NOS2_HUMAN	C	1055;1016	ENSP00000327251:Y1055C	ENSP00000327251:Y1055C	Y	-	2	0	NOS2	23110224	1.000000	0.71417	0.967000	0.41034	0.925000	0.55904	7.818000	0.86416	1.741000	0.51731	0.379000	0.24179	TAT		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1		NM_000625	
NOL11	25926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	65730487	65730487	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:65730487T>A	ENST00000253247.4	+	8	977	c.862T>A	c.(862-864)Tct>Act	p.S288T	NOL11_ENST00000535137.1_Missense_Mutation_p.S106T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	288					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.S288T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAATGCCTCTCTGTATGGAA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											44.0	46.0	46.0					17																	65730487		2203	4299	6502	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.862T>A	17.37:g.65730487T>A	ENSP00000253247:p.Ser288Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.317141	0.23908	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.54675	0.56	5.28	2.95	0.34219	.	0.283463	0.41194	D	0.000937	T	0.42131	0.1189	L	0.54323	1.7	0.25448	N	0.988036	B	0.21905	0.062	B	0.21917	0.037	T	0.32052	-0.9921	10	0.08381	T	0.77	-2.7184	10.0981	0.42488	0.0:0.0:0.3255:0.6745	.	288	Q9H8H0	NOL11_HUMAN	T	288;106	ENSP00000253247:S288T	ENSP00000253247:S288T	S	+	1	0	NOL11	63160949	0.996000	0.38824	0.897000	0.35233	0.654000	0.38779	2.746000	0.47467	0.273000	0.22049	0.460000	0.39030	TCT		0.328	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1		NM_015462	
NRXN2	9379	hgsc.bcm.edu;ucsc.edu	37	11	64428577	64428577	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:64428577G>C	ENST00000377551.1	-	9	2044	c.1833C>G	c.(1831-1833)ttC>ttG	p.F611L	NRXN2_ENST00000265459.6_Missense_Mutation_p.F611L|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.F604L|NRXN2_ENST00000377559.3_Missense_Mutation_p.F580L|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	611	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CAGTGGCCAAGAACGGCGTGC	0.622																																																	0													29.0	33.0	31.0					11																	64428577		2201	4295	6496	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1833C>G	11.37:g.64428577G>C	ENSP00000366774:p.Phe611Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136882	0.56936	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.8	3.81	0.43845	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.46145	U	0.000314	T	0.81346	0.4803	L	0.45352	1.415	0.58432	D	0.999992	P;B;D	0.61080	0.926;0.146;0.989	P;B;D	0.70227	0.729;0.026;0.968	T	0.81942	-0.0702	10	0.87932	D	0	.	9.8259	0.40912	0.1094:0.0:0.8906:0.0	.	580;611;357	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	L	611;580;611;580;604	ENSP00000366774:F611L;ENSP00000366782:F580L;ENSP00000265459:F611L;ENSP00000386416:F604L	ENSP00000265459:F611L	F	-	3	2	NRXN2	64185153	1.000000	0.71417	0.989000	0.46669	0.112000	0.19704	4.524000	0.60552	2.496000	0.84212	0.555000	0.69702	TTC		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080	
NUP133	55746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229641823	229641823	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:229641823G>T	ENST00000261396.3	-	2	356	c.265C>A	c.(265-267)Cct>Act	p.P89T	RP4-613A2.1_ENST00000417605.1_RNA|NUP133_ENST00000537506.1_Missense_Mutation_p.P73T|NUP133_ENST00000366678.3_Missense_Mutation_p.P89T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	89					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.P89T(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACTTTAACAGGAAGAGAAGAT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											174.0	162.0	166.0					1																	229641823		2203	4300	6503	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.265C>A	1.37:g.229641823G>T	ENSP00000261396:p.Pro89Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375116	0.82682	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82962	0.5151	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85094	0.0953	10	0.87932	D	0	-1.3152	19.0053	0.92848	0.0:0.0:1.0:0.0	.	89	Q8WUM0	NU133_HUMAN	T	89;89;89;73;89	ENSP00000261396:P89T;ENSP00000355640:P89T;ENSP00000443496:P73T;ENSP00000355639:P89T	ENSP00000261396:P89T	P	-	1	0	NUP133	227708446	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	8.406000	0.90216	2.469000	0.83416	0.555000	0.69702	CCT		0.408	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1		NM_018230	
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24885951	24885951	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr14:24885951C>A	ENST00000382554.3	+	9	5314	c.4996C>A	c.(4996-4998)Cat>Aat	p.H1666N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1666	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.H1666N(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTTCAGCATGTGTTTGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											36.0	41.0	39.0					14																	24885951		2040	4170	6210	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4996C>A	14.37:g.24885951C>A	ENSP00000371994:p.His1666Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363383	0.41902	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	5.26	5.26	0.73747	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.09069	0.0224	N	0.25144	0.715	0.31878	N	0.618844	B	0.26081	0.141	B	0.23574	0.047	T	0.09292	-1.0681	9	0.21014	T	0.42	.	16.4044	0.83654	0.0:1.0:0.0:0.0	.	1666	Q9P2P1	NYNRI_HUMAN	N	1666	ENSP00000371994:H1666N	ENSP00000371994:H1666N	H	+	1	0	NYNRIN	23955791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.649000	0.46656	2.735000	0.93741	0.561000	0.74099	CAT		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			
OR6K2	81448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158670021	158670021	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:158670021G>T	ENST00000359610.2	-	1	465	c.422C>A	c.(421-423)aCc>aAc	p.T141N		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T141N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGTCAGTTGGGTACATAGCTT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											123.0	109.0	114.0					1																	158670021		2203	4300	6503	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.422C>A	1.37:g.158670021G>T	ENSP00000352626:p.Thr141Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820667	0.16678	.	.	ENSG00000196171	ENST00000359610	T	0.37752	1.18	4.7	0.32	0.15878	GPCR, rhodopsin-like superfamily (1);	0.662694	0.12387	N	0.473391	T	0.10551	0.0258	L	0.33668	1.02	0.19945	N	0.999948	B	0.27013	0.166	B	0.32583	0.148	T	0.38779	-0.9645	10	0.23302	T	0.38	-1.0135	7.9861	0.30213	0.4203:0.0:0.5797:0.0	.	141	Q8NGY2	OR6K2_HUMAN	N	141	ENSP00000352626:T141N	ENSP00000352626:T141N	T	-	2	0	OR6K2	156936645	0.000000	0.05858	0.215000	0.23724	0.768000	0.43524	-0.152000	0.10159	0.175000	0.19841	0.650000	0.86243	ACC		0.468	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1		NM_001005279	
OXCT1	5019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41794778	41794778	+	Splice_Site	SNP	C	C	G	rs556336929		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:41794778C>G	ENST00000196371.5	-	12	1333		c.e12+1		OXCT1_ENST00000513081.1_5'Flank|OXCT1_ENST00000510634.1_5'Flank|OXCT1_ENST00000512084.1_5'Flank|OXCT1_ENST00000509987.1_Splice_Site	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1						adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTATTACATACCCTCTAATCA	0.428																																																	1	Unknown(1)	kidney(1)											64.0	60.0	62.0					5																	41794778		2203	4300	6503	SO:0001630	splice_region_variant	5019			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1172+1G>C	5.37:g.41794778C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2R5V2|B7Z528	Splice_Site	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139426	0.77775	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9061	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OXCT1	41830535	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.410000	0.80065	2.765000	0.95021	0.655000	0.94253	.		0.428	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2		NM_000436	Intron
PARD6B	84612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49367004	49367004	+	Silent	SNP	T	T	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr20:49367004T>C	ENST00000371610.2	+	3	1341	c.1098T>C	c.(1096-1098)gaT>gaC	p.D366D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	366					axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.D366D(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TAGAAGAAGATGGAACAATCA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	44.0	45.0					20																	49367004		2203	4300	6503	SO:0001819	synonymous_variant	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.1098T>C	20.37:g.49367004T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2A7|Q9Y510	Silent	SNP	ENST00000371610.2	37	CCDS33485.1																																																																																				0.388	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2		NM_032521	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52649377	52649377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:52649377delT	ENST00000296302.7	-	15	1915	c.1914delA	c.(1912-1914)aaafs	p.K638fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K653fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K606fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K638fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K653fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K638fs			Q86U86	PB1_HUMAN	polybromo 1	638					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAGCTTGAGTTTGGGAGAAG	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													105.0	93.0	97.0					3																	52649377		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1914delA	3.37:g.52649377delT	ENSP00000296302:p.Lys638fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHA9	9752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140230065	140230065	+	Missense_Mutation	SNP	C	C	T	rs572249977		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr5:140230065C>T	ENST00000532602.1	+	1	3018	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T662M|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T662M(4)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCCACTGTG	0.692													.|||	1	0.000199681	0.0	0.0	5008	,	,		14999	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)												4	Substitution - Missense(4)	kidney(2)|endometrium(2)											44.0	47.0	46.0					5																	140230065		2197	4266	6463	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1985C>T	5.37:g.140230065C>T	ENSP00000436042:p.Thr662Met	Somatic		WXS	Illumina HiSeq	Phase_I	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827628	0.50845	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57107	0.42;0.42	4.13	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.000000	0.32488	U	0.006025	T	0.75451	0.3851	M	0.91818	3.245	0.28839	N	0.896706	D;D	0.89917	0.997;1.0	D;D	0.87578	0.921;0.998	T	0.72527	-0.4266	10	0.87932	D	0	.	10.4648	0.44600	0.0:0.9083:0.0:0.0917	.	662;662	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	662	ENSP00000436042:T662M;ENSP00000367362:T662M	ENSP00000367362:T662M	T	+	2	0	PCDHA9	140210249	0.966000	0.33281	0.910000	0.35882	0.070000	0.16714	5.308000	0.65768	1.982000	0.57802	0.313000	0.20887	ACG		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857	
PGLYRP2	114770	broad.mit.edu;hgsc.bcm.edu	37	19	15586606	15586606	+	Missense_Mutation	SNP	G	G	A	rs372471706		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:15586606G>A	ENST00000340880.4	-	2	1355	c.875C>T	c.(874-876)cCc>cTc	p.P292L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P292L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	292					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.P292L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGATGGCCGGGGCTCAGGAGT	0.617																																																	2	Substitution - Missense(2)	kidney(2)						G	LEU/PRO	0,4406		0,0,2203	34.0	37.0	36.0		875	5.3	0.9	19		36	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGLYRP2	NM_052890.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	292/577	15586606	1,13005	2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.875C>T	19.37:g.15586606G>A	ENSP00000345968:p.Pro292Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305037	0.40795	0.0	1.16E-4	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04862	3.55;3.54	5.31	5.31	0.75309	.	0.226623	0.36665	N	0.002475	T	0.26048	0.0635	M	0.80847	2.515	0.46113	D	0.998878	D;D	0.67145	0.996;0.993	D;D	0.69824	0.966;0.925	T	0.00708	-1.1600	10	0.87932	D	0	-19.4145	14.4865	0.67622	0.0:0.0:1.0:0.0	.	292;292	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	292	ENSP00000345968:P292L;ENSP00000292609:P292L	ENSP00000292609:P292L	P	-	2	0	PGLYRP2	15447606	1.000000	0.71417	0.919000	0.36401	0.052000	0.14988	3.976000	0.56867	2.500000	0.84329	0.561000	0.74099	CCC		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1		NM_052890	
PGM2	55276	hgsc.bcm.edu;ucsc.edu	37	4	37845989	37845989	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr4:37845989G>A	ENST00000381967.4	+	7	824	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	PGM2_ENST00000544359.1_Missense_Mutation_p.V103M|PGM2_ENST00000537241.1_Missense_Mutation_p.V82M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	242					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.V242M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTCTAGGAGCGTGAACAGGGA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											144.0	130.0	135.0					4																	37845989		2203	4300	6503	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.724G>A	4.37:g.37845989G>A	ENSP00000371393:p.Val242Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	6.943	0.543717	0.13250	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.63255	-0.03;-0.03;-0.03	5.96	1.23	0.21249	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (3);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.261125	0.42294	D	0.000733	T	0.43831	0.1265	L	0.31845	0.965	0.26238	N	0.978918	B;B	0.27679	0.049;0.185	B;B	0.29862	0.067;0.108	T	0.19451	-1.0305	10	0.27785	T	0.31	-6.2533	4.6769	0.12717	0.4305:0.1559:0.4136:0.0	.	242;103	Q96G03;B4E0G8	PGM2_HUMAN;.	M	242;103;82	ENSP00000371393:V242M;ENSP00000438025:V103M;ENSP00000437342:V82M	ENSP00000371393:V242M	V	+	1	0	PGM2	37522384	0.908000	0.30866	0.326000	0.25389	0.262000	0.26303	1.726000	0.38085	0.407000	0.25591	0.655000	0.94253	GTG		0.463	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2		NM_018290	
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			
PLG	5340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161139402	161139402	+	Silent	SNP	T	T	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:161139402T>A	ENST00000308192.9	+	8	927	c.864T>A	c.(862-864)gcT>gcA	p.A288A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	288	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A288A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAATGTGGCTGTTACCGTGT	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	137.0	140.0					6																	161139402		2203	4300	6503	SO:0001819	synonymous_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.864T>A	6.37:g.161139402T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																				0.527	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2		NM_000301	
PPM1J	333926	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113255367	113255367	+	Splice_Site	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:113255367A>G	ENST00000309276.6	-	3	903	c.728T>C	c.(727-729)aTg>aCg	p.M243T	PPM1J_ENST00000464951.1_Splice_Site_p.M37T|RP11-426L16.10_ENST00000606505.1_5'Flank|RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000359994.4_Splice_Site_p.M37T|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	243	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)	p.M243T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACTCACCATGAGCTGGAA	0.587																																																	1	Substitution - Missense(1)	kidney(1)											92.0	89.0	90.0					1																	113255367		2203	4300	6503	SO:0001630	splice_region_variant	333926			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.729+1T>C	1.37:g.113255367A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	CCDS855.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173086	0.78452	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.08546	3.08;3.08	5.84	5.84	0.93424	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.33339	1.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.986	T	0.02860	-1.1101	10	0.72032	D	0.01	-27.3636	15.8659	0.79063	1.0:0.0:0.0:0.0	.	243;37	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	T	243;37	ENSP00000308926:M243T;ENSP00000353088:M37T	ENSP00000308926:M243T	M	-	2	0	PPM1J	113056890	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.063000	0.76714	2.234000	0.73211	0.459000	0.35465	ATG		0.587	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1		NM_005167	Missense_Mutation
PRKCG	5582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54395811	54395811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:54395811G>A	ENST00000263431.3	+	7	1017	c.735G>A	c.(733-735)tgG>tgA	p.W245*	PRKCG_ENST00000542049.1_Nonsense_Mutation_p.W132*|PRKCG_ENST00000536044.1_Nonsense_Mutation_p.W245*|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.W245*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	245	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.W245*(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TGGAGGTGTGGGACTGGGACC	0.672																																																	1	Substitution - Nonsense(1)	kidney(1)											56.0	43.0	47.0					19																	54395811		2203	4300	6503	SO:0001587	stop_gained	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.735G>A	19.37:g.54395811G>A	ENSP00000263431:p.Trp245*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8Q0	Nonsense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257847	0.95368	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4886	0.67634	0.0:0.0:1.0:0.0	.	.	.	.	X	245;245;245;132	.	ENSP00000263431:W245X	W	+	3	0	PRKCG	59087623	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.062000	0.93920	2.061000	0.61500	0.555000	0.69702	TGG		0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3		NM_002739	
PRRC2C	23215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	171560943	171560943	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:171560943C>A	ENST00000338920.4	+	34	8648	c.8411C>A	c.(8410-8412)cCa>cAa	p.P2804Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.P2806Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2739Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2885Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2883					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P2885Q(2)									AGAACTGGACCAATCAAACCT	0.493																																																	2	Substitution - Missense(2)	kidney(2)											91.0	92.0	91.0					1																	171560943		1838	4090	5928	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8411C>A	1.37:g.171560943C>A	ENSP00000343629:p.Pro2804Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.34|15.34	2.803540|2.803540	0.50315|0.50315	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	T;T;T;T|.	0.08634|.	3.44;3.13;3.08;3.07|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|.	.|.	.|.	.|.	T|T	0.46889|0.46889	0.1416|0.1416	L|L	0.27053|0.27053	0.805|0.805	0.45634|0.45634	D|D	0.998569|0.998569	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.38329|0.38329	-0.9666|-0.9666	9|5	0.62326|.	D|.	0.03|.	.|.	19.5655|19.5655	0.95391|0.95391	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2739;2804|.	B7WNZ6;Q9Y520-4|.	.;.|.	Q|K	2885;2837;2739;2806;2804;2640|1287	ENSP00000375928:P2885Q;ENSP00000410219:P2739Q;ENSP00000356716:P2806Q;ENSP00000343629:P2804Q|.	ENSP00000343629:P2804Q|.	P|Q	+|+	2|1	0|0	PRRC2C|PRRC2C	169827566|169827566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.091000|7.091000	0.76923|0.76923	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	CCA|CAA		0.493	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172	
RCVRN	5957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	9808162	9808162	+	Silent	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:9808162G>A	ENST00000226193.5	-	1	776	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	112	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.D112D(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						TCCCGTTACCGTCCACGTCGT	0.627																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											167.0	132.0	144.0					17																	9808162		2203	4300	6503	SO:0001819	synonymous_variant	5957			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.336C>T	17.37:g.9808162G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53XL0	Silent	SNP	ENST00000226193.5	37	CCDS11151.1																																																																																				0.627	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2		NM_002903	
SEC31A	22872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83770070	83770070	+	Missense_Mutation	SNP	G	G	T	rs200045009		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr4:83770070G>T	ENST00000395310.2	-	20	2571	c.2389C>A	c.(2389-2391)Cat>Aat	p.H797N	SEC31A_ENST00000311785.7_Missense_Mutation_p.H797N|SEC31A_ENST00000500777.2_Missense_Mutation_p.H758N|SEC31A_ENST00000432794.1_Missense_Mutation_p.H797N|SEC31A_ENST00000505984.1_Missense_Mutation_p.H758N|SEC31A_ENST00000448323.1_Missense_Mutation_p.H797N|SEC31A_ENST00000264405.5_Missense_Mutation_p.H530N|SEC31A_ENST00000508502.1_Missense_Mutation_p.H797N|SEC31A_ENST00000326950.5_Missense_Mutation_p.H758N|SEC31A_ENST00000509142.1_Missense_Mutation_p.H797N|SEC31A_ENST00000508479.1_Missense_Mutation_p.H797N|SEC31A_ENST00000443462.2_Missense_Mutation_p.H792N|SEC31A_ENST00000505472.1_Missense_Mutation_p.H797N|SEC31A_ENST00000355196.2_Missense_Mutation_p.H797N|SEC31A_ENST00000513858.1_Missense_Mutation_p.H758N|SEC31A_ENST00000348405.4_Missense_Mutation_p.H758N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	797					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.H797N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGTGATTCATGTCCTGCTACA	0.483																																																	2	Substitution - Missense(2)	kidney(2)											143.0	131.0	135.0					4																	83770070		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2389C>A	4.37:g.83770070G>T	ENSP00000378721:p.His797Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.324|8.324	0.824884|0.824884	0.16678|0.16678	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479|ENST00000507828	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.36878|.	1.41;1.27;2.48;2.48;1.33;2.38;2.48;1.41;1.33;1.23;1.27;2.48;2.48;3.3;2.41;2.38|.	5.65|5.65	4.79|4.79	0.61399|0.61399	.|.	0.660442|.	0.15220|.	N|.	0.273993|.	T|T	0.27629|0.27629	0.0679|0.0679	N|N	0.08118|0.08118	0|0	0.22171|0.22171	N|N	0.99932|0.99932	B;B;B;B;B;B;B;B;B|.	0.12630|.	0.003;0.002;0.002;0.001;0.001;0.0;0.006;0.0;0.003|.	B;B;B;B;B;B;B;B;B|.	0.17433|.	0.005;0.005;0.008;0.0;0.003;0.0;0.018;0.001;0.004|.	T|T	0.19095|0.19095	-1.0316|-1.0316	10|5	0.49607|.	T|.	0.09|.	-0.0057|-0.0057	14.4099|14.4099	0.67109|0.67109	0.0:0.1477:0.8523:0.0|0.0:0.1477:0.8523:0.0	.|.	792;758;797;758;758;797;797;797;530|.	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7|.	.;.;.;.;.;.;.;SC31A_HUMAN;.|.	N|K	758;758;797;792;797;797;797;758;797;797;758;797;797;530;758;797|413	ENSP00000337602:H758N;ENSP00000426886:H758N;ENSP00000378721:H797N;ENSP00000408027:H792N;ENSP00000426569:H797N;ENSP00000407944:H797N;ENSP00000400926:H797N;ENSP00000325087:H758N;ENSP00000309070:H797N;ENSP00000421633:H797N;ENSP00000421464:H758N;ENSP00000424635:H797N;ENSP00000347329:H797N;ENSP00000264405:H530N;ENSP00000424451:H758N;ENSP00000425999:H797N|.	ENSP00000264405:H530N|.	H|T	-|-	1|2	0|0	SEC31A|SEC31A	83989094|83989094	0.912000|0.912000	0.30974|0.30974	0.020000|0.020000	0.16555|0.16555	0.186000|0.186000	0.23388|0.23388	3.677000|3.677000	0.54619|0.54619	1.360000|1.360000	0.45960|0.45960	0.591000|0.591000	0.81541|0.81541	CAT|ACA		0.483	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211	
SEPN1	57190	hgsc.bcm.edu;ucsc.edu	37	1	26136292	26136293	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:26136292_26136293delCT	ENST00000374315.1	+	6	927_928	c.889_890delCT	c.(889-891)ctcfs	p.L297fs	SEPN1_ENST00000361547.2_Frame_Shift_Del_p.L331fs|SEPN1_ENST00000354177.4_Frame_Shift_Del_p.L297fs	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	331						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CGACTTCCGGCTCTTCGTGCCC	0.639																																																	0																																										SO:0001589	frameshift_variant	57190			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.889_890delCT	1.37:g.26136294_26136295delCT	ENSP00000363434:p.Leu297fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Frame_Shift_Del	DEL	ENST00000374315.1	37	CCDS41283.1																																																																																				0.639	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2		NM_020451	
SLC1A1	6505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	4576614	4576614	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:4576614C>G	ENST00000262352.3	+	10	1280	c.1044C>G	c.(1042-1044)aaC>aaG	p.N348K		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	348					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.N348K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	AAGAAAATAACCAGGTGGACA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											160.0	152.0	155.0					9																	4576614		2203	4300	6503	SO:0001583	missense	6505				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1044C>G	9.37:g.4576614C>G	ENSP00000262352:p.Asn348Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	CCDS6452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.77|15.77	2.932154|2.932154	0.52866|0.52866	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	T|.	0.59224|.	0.28|.	5.54|5.54	0.529|0.529	0.17095|0.17095	.|.	0.084915|.	0.85682|.	D|.	0.000000|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.87900|0.87900	2.915|2.915	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.46912|.	0.886|.	P|.	0.55871|.	0.786|.	T|T	0.71869|0.71869	-0.4462|-0.4462	10|5	0.66056|.	D|.	0.02|.	-8.7842|-8.7842	9.2925|9.2925	0.37795|0.37795	0.0:0.5859:0.0:0.4141|0.0:0.5859:0.0:0.4141	.|.	348|.	P43005|.	EAA3_HUMAN|.	K|A	348|111	ENSP00000262352:N348K|.	ENSP00000262352:N348K|.	N|P	+|+	3|1	2|0	SLC1A1|SLC1A1	4566614|4566614	0.038000|0.038000	0.19896|0.19896	0.231000|0.231000	0.23993|0.23993	0.761000|0.761000	0.43186|0.43186	0.496000|0.496000	0.22499|0.22499	-0.168000|-0.168000	0.10853|0.10853	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.468	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	86258079	86258079	+	Silent	SNP	A	A	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:86258079A>T	ENST00000314673.3	-	9	983	c.807T>A	c.(805-807)ctT>ctA	p.L269L	SNX14_ENST00000505648.1_Silent_p.L217L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Silent_p.L269L|SNX14_ENST00000346348.3_Silent_p.L225L|SNX14_ENST00000513865.1_Silent_p.L269L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	269	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.L269L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCTCTCTTATAAGTAAGGTCA	0.294																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	52.0	50.0					6																	86258079		2203	4296	6499	SO:0001819	synonymous_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.807T>A	6.37:g.86258079A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	CCDS5004.1																																																																																				0.294	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816	
STRA8	346673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134928142	134928142	+	Silent	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr7:134928142C>T	ENST00000275764.3	+	4	399	c.399C>T	c.(397-399)agC>agT	p.S133S		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.S133S(1)|p.S133R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AATATGCCAGCATGTATTCTG	0.502																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											107.0	94.0	99.0					7																	134928142		2203	4300	6503	SO:0001819	synonymous_variant	346673			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.399C>T	7.37:g.134928142C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000275764.3	37	CCDS5839.1																																																																																				0.502	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1		NM_182489	
TBX19	9095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168260459	168260459	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:168260459C>T	ENST00000367821.3	+	2	316	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	89					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L89F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CATGTACTCCCTCCTGCTGGA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											137.0	123.0	127.0					1																	168260459		2203	4300	6503	SO:0001583	missense	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.265C>T	1.37:g.168260459C>T	ENSP00000356795:p.Leu89Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.507|1.507	-0.550399|-0.550399	0.03996|0.03996	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.82167|.	-1.58|.	4.99|4.99	2.95|2.95	0.34219|0.34219	p53-like transcription factor, DNA-binding (1);|.	0.279585|.	0.34067|.	N|.	0.004293|.	T|T	0.12178|0.12178	0.0296|0.0296	N|N	0.25890|0.25890	0.77|0.77	.|.	.|.	.|.	B;B|.	0.25048|.	0.117;0.034|.	B;B|.	0.21360|.	0.034;0.023|.	T|T	0.16305|0.16305	-1.0407|-1.0407	9|4	0.21014|.	T|.	0.42|.	.|.	2.2504|2.2504	0.04042|0.04042	0.2833:0.4824:0.0:0.2343|0.2833:0.4824:0.0:0.2343	.|.	89;20|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	F|L	89;29|21	ENSP00000356795:L89F|.	ENSP00000356795:L89F|.	L|P	+|+	1|2	0|0	TBX19|TBX19	166527083|166527083	0.870000|0.870000	0.30015|0.30015	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	1.380000|1.380000	0.34351|0.34351	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.557	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1		NM_005149	
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63125718	63125718	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr15:63125718C>A	ENST00000561311.1	+	54	7248	c.7018C>A	c.(7018-7020)Ctg>Atg	p.L2340M	TLN2_ENST00000306829.6_Missense_Mutation_p.L2340M|RP11-1069G10.1_ENST00000558888.1_RNA|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2340	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L2340M(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGATGAGACCCTGGACTTTGA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											161.0	163.0	163.0					15																	63125718		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7018C>A	15.37:g.63125718C>A	ENSP00000453508:p.Leu2340Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345492	0.61073	.	.	ENSG00000171914	ENST00000306829	T	0.33216	1.42	5.84	1.93	0.25924	I/LWEQ (3);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	L	0.57130	1.785	0.43678	D	0.996114	D	0.76494	0.999	D	0.91635	0.999	T	0.26815	-1.0092	10	0.42905	T	0.14	-13.5301	10.1023	0.42513	0.0:0.7377:0.0:0.2623	.	2340	Q9Y4G6	TLN2_HUMAN	M	2340	ENSP00000303476:L2340M	ENSP00000303476:L2340M	L	+	1	2	TLN2	60912771	0.961000	0.32948	1.000000	0.80357	0.996000	0.88848	2.120000	0.41968	0.399000	0.25367	0.561000	0.74099	CTG		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			
TMEM144	55314	hgsc.bcm.edu	37	4	159138559	159138560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr4:159138559_159138560insG	ENST00000296529.6	+	5	839_840	c.319_320insG	c.(319-321)tggfs	p.W107fs	TMEM144_ENST00000514558.1_Frame_Shift_Ins_p.W107fs	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	107						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTTAACTGGCTGGGCAAGCTCA	0.376																																																	0																																										SO:0001589	frameshift_variant	55314			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.322dupG	4.37:g.159138562_159138562dupG	ENSP00000296529:p.Trp107fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP24|Q49A05|Q9NUT3	Frame_Shift_Ins	INS	ENST00000296529.6	37	CCDS3799.1																																																																																				0.376	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1		NM_018342	
TNKS1BP1	85456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57068043	57068043	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr11:57068043C>A	ENST00000532437.1	-	10	5472	c.5161G>T	c.(5161-5163)Gcc>Tcc	p.A1721S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1721S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1721	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A1721S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTTTCAGGGCTTGAAGCCAG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											183.0	157.0	166.0					11																	57068043		2201	4296	6497	SO:0001583	missense	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5161G>T	11.37:g.57068043C>A	ENSP00000437271:p.Ala1721Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600812	0.87055	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33865	1.39;1.39	5.06	5.06	0.68205	.	0.083062	0.48286	D	0.000190	T	0.56761	0.2007	M	0.64997	1.995	0.31268	N	0.692141	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.921	T	0.63739	-0.6569	10	0.87932	D	0	-17.0664	15.337	0.74266	0.0:1.0:0.0:0.0	.	1721;303	Q9C0C2;Q86TK2	TB182_HUMAN;.	S	1721	ENSP00000350990:A1721S;ENSP00000437271:A1721S	ENSP00000350990:A1721S	A	-	1	0	TNKS1BP1	56824619	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.442000	0.59988	2.359000	0.80004	0.561000	0.74099	GCC		0.537	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396	
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175365838	175365838	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr1:175365838G>A	ENST00000367674.2	-	5	1790	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	TNR_ENST00000263525.2_Missense_Mutation_p.P361L			Q92752	TENR_HUMAN	tenascin R	361	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P361L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGGGCCGTCGGCTGGTAAGA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											67.0	68.0	67.0					1																	175365838		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1082C>T	1.37:g.175365838G>A	ENSP00000356646:p.Pro361Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194032	0.94960	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58797	0.31;0.31	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80995	-0.1133	10	0.72032	D	0.01	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	361	Q92752	TENR_HUMAN	L	361	ENSP00000356646:P361L;ENSP00000263525:P361L	ENSP00000263525:P361L	P	-	2	0	TNR	173632461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	2.826000	0.97356	0.655000	0.94253	CCG		0.612	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
TRIM65	201292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73888859	73888859	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:73888859G>A	ENST00000269383.3	-	2	552	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	163						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R163C(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTTGCTTGCGCAGCTCTAGT	0.667																																																	1	Substitution - Missense(1)	kidney(1)											51.0	45.0	47.0					17																	73888859		2203	4300	6503	SO:0001583	missense	201292			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.487C>T	17.37:g.73888859G>A	ENSP00000269383:p.Arg163Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.627|9.627	1.135264|1.135264	0.21123|0.21123	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000540128|ENST00000269383	.|T	.|0.58506	.|0.33	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|0.159823	.|0.29737	.|N	.|0.011327	T|T	0.39989|0.39989	0.1099|0.1099	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999987|0.999987	.|P	.|0.41102	.|0.738	.|B	.|0.40329	.|0.326	T|T	0.44997|0.44997	-0.9291|-0.9291	5|10	.|0.87932	.|D	.|0	.|.	13.6113|13.6113	0.62080|0.62080	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163	.|Q6PJ69	.|TRI65_HUMAN	V|C	154|163	.|ENSP00000269383:R163C	.|ENSP00000269383:R163C	A|R	-|-	2|1	0|0	TRIM65|TRIM65	71400454|71400454	0.232000|0.232000	0.23762|0.23762	0.118000|0.118000	0.21660|0.21660	0.002000|0.002000	0.02628|0.02628	1.979000|1.979000	0.40608|0.40608	2.358000|2.358000	0.79984|0.79984	0.556000|0.556000	0.70494|0.70494	GCG|CGC		0.667	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2		NM_173547	
TRPM3	80036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	73477850	73477850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:73477850C>A	ENST00000377111.2	-	3	679	c.436G>T	c.(436-438)Gga>Tga	p.G146*	TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000408909.2_5'Flank|TRPM3_ENST00000361823.5_De_novo_Start_OutOfFrame|TRPM3_ENST00000377101.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000358082.3_5'Flank|TRPM3_ENST00000377110.3_Nonsense_Mutation_p.G146*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.G148*|TRPM3_ENST00000396292.4_5'Flank|TRPM3_ENST00000396285.1_5'Flank|TRPM3_ENST00000396283.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000360823.2_De_novo_Start_OutOfFrame|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.G148*|TRPM3_ENST00000377097.3_De_novo_Start_OutOfFrame|TRPM3_ENST00000377105.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000377106.1_De_novo_Start_OutOfFrame|TRPM3_ENST00000396280.5_5'Flank	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	146					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.G146*(1)|p.G148*(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGCCACCTCCTTGGAACTCA	0.488																																																	2	Substitution - Nonsense(2)	kidney(2)											207.0	195.0	199.0					9																	73477850		2203	4300	6503	SO:0001587	stop_gained	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.436G>T	9.37:g.73477850C>A	ENSP00000366315:p.Gly146*	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Nonsense_Mutation	SNP	ENST00000377111.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.837319|5.837319	0.97009|0.97009	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000357533;ENST00000423814|ENST00000377097	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77082	.|0.4078	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73953	.|-0.3820	.|4	0.87932|.	D|.	0|.	-14.1673|-14.1673	20.3854|20.3854	0.98941|0.98941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	146;146;148;148|35	.|.	ENSP00000350140:G148X|.	G|K	-|-	1|3	0|2	TRPM3|TRPM3	72667670|72667670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.488	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5		NM_206945	
UBR5	51366	hgsc.bcm.edu	37	8	103307655	103307656	+	Frame_Shift_Ins	INS	-	-	G	rs376691139		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:103307655_103307656insG	ENST00000520539.1	-	30	4523_4524	c.3917_3918insC	c.(3916-3918)acafs	p.T1306fs	UBR5_ENST00000521922.1_Frame_Shift_Ins_p.T1300fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.T1306fs|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1306					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGGACTGGCTGTTTTTCGGTT	0.401																																					Ovarian(131;96 1741 5634 7352 27489)												0																																										SO:0001589	frameshift_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3918dupC	8.37:g.103307656_103307656dupG	ENSP00000429084:p.Thr1306fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	CCDS34933.1																																																																																				0.401	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902	
UHRF1	29128	broad.mit.edu;hgsc.bcm.edu	37	19	4954476	4954476	+	RNA	SNP	G	G	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:4954476G>T	ENST00000592666.1	+	0	2509							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G658C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GACGGGCAAGGGCAAGTGGAA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											43.0	53.0	49.0					19																	4954476		2074	4175	6249			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954476G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	G	17.12	3.308344	0.60305	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	3.88	1.7	0.24286	.	0.745999	0.12616	N	0.453403	T	0.47691	0.1459	L	0.27053	0.805	0.38757	D	0.954235	D;D	0.71674	0.998;0.992	P;P	0.58077	0.819;0.832	T	0.56739	-0.7929	8	0.59425	D	0.04	.	9.5819	0.39493	0.1747:0.0:0.8253:0.0	.	658;645	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	645;260;645;645;658	.	ENSP00000262952:G645C	G	+	1	0	UHRF1	4905476	1.000000	0.71417	0.889000	0.34880	0.783000	0.44284	1.593000	0.36686	0.250000	0.21479	0.462000	0.41574	GGC		0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1		NM_001048201	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191480	10191480	+	Missense_Mutation	SNP	T	T	C	rs121913346		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr3:10191480T>C	ENST00000256474.2	+	3	1313	c.473T>C	c.(472-474)cTg>cCg	p.L158P	VHL_ENST00000345392.2_Missense_Mutation_p.L117P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Missense(12)|Deletion - Frameshift(6)|Deletion - In frame(3)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(24)	GRCh37	CI024083|CI962364|CM941379	VHL	I|M	rs121913346						89.0	82.0	84.0					3																	10191480		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.473T>C	3.37:g.10191480T>C	ENSP00000256474:p.Leu158Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147521	0.57151	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99848	-7.14;-7.14	4.86	3.66	0.41972	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99697	0.9885	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97985	1.0351	10	0.87932	D	0	-5.6982	9.9953	0.41896	0.0:0.0:0.1705:0.8295	.	117;158	P40337-2;P40337	.;VHL_HUMAN	P	158;117;76	ENSP00000256474:L158P;ENSP00000344757:L117P	ENSP00000256474:L158P	L	+	2	0	VHL	10166480	1.000000	0.71417	0.991000	0.47740	0.618000	0.37518	5.790000	0.69038	0.947000	0.37659	0.533000	0.62120	CTG		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZDHHC8	29801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20130731	20130731	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr22:20130731C>A	ENST00000334554.7	+	10	1719	c.1578C>A	c.(1576-1578)agC>agA	p.S526R	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S434R|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S526R	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	526					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S526R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCAGCTTCAGCCCCGTGCTGG	0.706																																																	1	Substitution - Missense(1)	kidney(1)											15.0	19.0	18.0					22																	20130731		2175	4261	6436	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1578C>A	22.37:g.20130731C>A	ENSP00000334490:p.Ser526Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	14.73	2.623940	0.46840	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.75477	1.09;-0.94;1.04	4.79	2.69	0.31865	.	1.160520	0.06136	N	0.671521	D	0.82678	0.5089	L	0.51422	1.61	0.58432	D	0.999997	B;D;D	0.76494	0.041;0.999;0.999	B;D;D	0.83275	0.028;0.983;0.996	T	0.69862	-0.5030	10	0.54805	T	0.06	.	9.3655	0.38221	0.0:0.7769:0.0:0.2231	.	434;526;526	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	R	526;434;526	ENSP00000334490:S526R;ENSP00000317804:S434R;ENSP00000384716:S526R	ENSP00000317804:S434R	S	+	3	2	ZDHHC8	18510731	1.000000	0.71417	0.996000	0.52242	0.514000	0.34195	1.646000	0.37249	0.453000	0.26858	0.491000	0.48974	AGC		0.706	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1		NM_013373	
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28214212	28214212	+	Silent	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr8:28214212A>G	ENST00000344423.5	-	4	689	c.558T>C	c.(556-558)ccT>ccC	p.P186P	ZNF395_ENST00000523202.1_Silent_p.P186P|ZNF395_ENST00000523095.1_Silent_p.P186P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P186P(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CGGTCCCGGGAGGACTCTGTA	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	88.0	92.0					8																	28214212		2203	4300	6503	SO:0001819	synonymous_variant	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.558T>C	8.37:g.28214212A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	CCDS6067.1																																																																																				0.597	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			
ZNF594	84622	broad.mit.edu;hgsc.bcm.edu	37	17	5086351	5086351	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr17:5086351C>T	ENST00000399604.4	-	1	1341	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	ZNF594_ENST00000575779.1_Missense_Mutation_p.E401K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	401					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.E401K(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGGTTTCTCTCCTGTATGA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											163.0	166.0	165.0					17																	5086351		2062	4219	6281	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1201G>A	17.37:g.5086351C>T	ENSP00000382513:p.Glu401Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457163	0.43634	.	.	ENSG00000180626	ENST00000399604	T	0.24350	1.86	0.641	0.641	0.17759	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	L	0.51853	1.615	0.21604	N	0.999628	P	0.34757	0.467	B	0.39027	0.288	T	0.29792	-1.0000	9	0.66056	D	0.02	.	2.9353	0.05812	0.0:0.6538:0.0:0.3462	.	401	Q96JF6	ZN594_HUMAN	K	401	ENSP00000382513:E401K	ENSP00000382513:E401K	E	-	1	0	ZNF594	5027075	0.406000	0.25344	0.003000	0.11579	0.011000	0.07611	1.677000	0.37576	0.604000	0.29930	0.467000	0.42956	GAG		0.413	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737	
ZWILCH	55055	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	66797733	66797733	+	Intron	SNP	A	A	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr15:66797733A>C	ENST00000307897.5	+	1	433				ZWILCH_ENST00000565627.1_Intron|SNORD16_ENST00000362803.1_RNA|ZWILCH_ENST00000446801.2_Intron|RPL4_ENST00000564517.1_5'UTR|RPL4_ENST00000568588.1_5'UTR|ZWILCH_ENST00000565960.1_Intron|SNORD18A_ENST00000363753.1_RNA|RPL4_ENST00000307961.6_5'Flank|ZWILCH_ENST00000535141.2_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCCTTCAGTGAGTCTAGTCTC	0.577																																																	1	Unknown(1)	kidney(1)											106.0	108.0	107.0					15																	66797733		2201	4299	6500	SO:0001627	intron_variant	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.53+4A>C	15.37:g.66797733A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	RNA	SNP	ENST00000307897.5	37	CCDS10219.1																																																																																				0.577	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4		NM_017975	
ATP8B5P	158381	broad.mit.edu	37	9	35450233	35450233	+	RNA	SNP	A	A	T			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr9:35450233A>T	ENST00000430846.1	+	0	3083									ATPase, class I, type 8B, member 5, pseudogene																		AGAAATGTTTACTGTGGTGTA	0.373																																																	0																																												158381					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450233A>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000430846.1	37																																																																																					0.373	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1		NR_003581.1	
C2CD2	25966	broad.mit.edu	37	21	43338331	43338331	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr21:43338331C>A	ENST00000380486.3	-	5	844	c.603G>T	c.(601-603)caG>caT	p.Q201H	C2CD2_ENST00000329623.7_Missense_Mutation_p.Q46H	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	201						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q201H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCTCAGCCACCTGGTCCTGGT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											103.0	84.0	91.0					21																	43338331		2203	4300	6503	SO:0001583	missense	25966			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.603G>T	21.37:g.43338331C>A	ENSP00000369853:p.Gln201His	Somatic		WXS	Illumina GAIIx	Phase_I	Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	C	8.995	0.978748	0.18812	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.24723	1.84;1.84	4.87	2.92	0.33932	.	2.027230	0.01913	N	0.040011	T	0.23572	0.0570	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.002	B;B	0.11329	0.006;0.001	T	0.19289	-1.0310	10	0.54805	T	0.06	-3.2206	5.4698	0.16664	0.1975:0.7008:0.0:0.1017	.	46;201	Q6P6D1;Q9Y426	.;CU025_HUMAN	H	46;201	ENSP00000329302:Q46H;ENSP00000369853:Q201H	ENSP00000329302:Q46H	Q	-	3	2	C2CD2	42211400	0.002000	0.14202	0.003000	0.11579	0.029000	0.11900	1.632000	0.37102	1.195000	0.43115	0.655000	0.94253	CAG		0.502	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2		NM_015500	
FAM136BP	387071	broad.mit.edu	37	6	3045892	3045892	+	IGR	SNP	A	A	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr6:3045892A>G								RP1-90J20.11 (18233 upstream) : RP1-40E16.2 (10231 downstream)														p.D92G(1)									AAAGCCAAAGATTCAATAGAT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											59.0	48.0	51.0					6																	3045892		692	1591	2283	SO:0001628	intergenic_variant	0																															6.37:g.3045892A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.527									
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006961	+	RNA	DNP	CC	CC	AT	rs199838243|rs200228350	byFrequency	TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr22:23006960_23006961CC>AT	ENST00000385099.1	+	0	63_64																											GGGCTCTGCTCCTCCTCACCCT	0.629																																																	0																																												96610																														Exception_encountered	22.37:g.23006960_23006961delinsAT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000385099.1	37																																																																																					0.629	D86994.2-201	NOVEL	basic	miRNA	miRNA				
LSS	4047	broad.mit.edu	37	21	47629493	47629493	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr21:47629493G>C	ENST00000397728.3	-	13	1319	c.1241C>G	c.(1240-1242)gCt>gGt	p.A414G	LSS_ENST00000356396.4_Missense_Mutation_p.A414G|LSS_ENST00000522411.1_Missense_Mutation_p.A403G|LSS_ENST00000457828.2_Missense_Mutation_p.A334G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	414					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.A414G(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GAACTCATGAGCCTTCTGCAG	0.657																																					Pancreas(114;955 2313 34923 50507)												1	Substitution - Missense(1)	kidney(1)											45.0	41.0	42.0					21																	47629493		2202	4297	6499	SO:0001583	missense	4047			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1241C>G	21.37:g.47629493G>C	ENSP00000380837:p.Ala414Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802699	0.50315	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.3	5.3	0.74995	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.993	T	0.59768	-0.7392	10	0.32370	T	0.25	.	18.9185	0.92516	0.0:0.0:1.0:0.0	.	403;414	E9PEI9;P48449	.;ERG7_HUMAN	G	414;334;414;403	ENSP00000348762:A414G;ENSP00000409191:A334G;ENSP00000380837:A414G;ENSP00000429133:A403G	ENSP00000348762:A414G	A	-	2	0	LSS	46453921	1.000000	0.71417	0.886000	0.34754	0.047000	0.14425	7.573000	0.82421	2.649000	0.89929	0.655000	0.94253	GCT		0.657	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			
ANKRD30BL	554226	broad.mit.edu	37	2	132912341	132912341	+	Splice_Site	SNP	C	C	T	rs201696527		TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr2:132912341C>T	ENST00000409867.1	-	4	757	c.508G>A	c.(508-510)Gct>Act	p.A170T	RNU6-1132P_ENST00000459214.1_RNA|ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	170								p.A170T(2)		endometrium(1)|kidney(3)	4						GTGTGGCCAGCCTGTAAAACA	0.313																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001630	splice_region_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.508-1G>A	2.37:g.132912341C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37		.	.	.	.	.	.	.	.	.	.	.	9.294	1.051484	0.19827	.	.	ENSG00000163046	ENST00000409867	T	0.64438	-0.1	0.569	-0.552	0.11818	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.42716	-0.9435	5	0.38643	T	0.18	.	.	.	.	.	.	.	.	T	170	ENSP00000386398:A170T	ENSP00000295181:A170T	A	-	1	0	ANKRD30BL	132628811	0.467000	0.25831	0.261000	0.24466	0.505000	0.33919	0.179000	0.16840	-0.292000	0.08999	0.184000	0.17185	GCT		0.313	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2		NR_027019	Missense_Mutation
TMEM231	79583	broad.mit.edu	37	16	75590097	75590097	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr16:75590097T>G	ENST00000258173.6	-	1	87	c.11A>C	c.(10-12)tAt>tCt	p.Y4S	TMEM231_ENST00000569294.1_5'Flank|TMEM231_ENST00000565067.1_Missense_Mutation_p.Y4S|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000568377.1_Start_Codon_SNP_p.M1L	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	4					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.Y4S(1)|p.M1L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GAAGAGCTCATAGAGCGCCAT	0.672																																																	2	Substitution - Missense(2)	kidney(2)											5.0	6.0	5.0					16																	75590097		1779	3853	5632	SO:0001583	missense	79583				CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.11A>C	16.37:g.75590097T>G	ENSP00000258173:p.Tyr4Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	ENST00000258173.6	37	CCDS45530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.14|19.14	3.769764|3.769764	0.69992|0.69992	.|.	.|.	ENSG00000205084|ENSG00000205084	ENST00000398114|ENST00000258173	T|T	0.76186|0.68181	-1.0|-0.31	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|.	.|.	.|.	.|.	T|T	0.58061|0.58061	0.2096|0.2096	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|P	0.09022|0.36354	0.002|0.549	B|B	0.13407|0.34038	0.009|0.174	T|T	0.59402|0.59402	-0.7461|-0.7461	8|8	0.87932|0.38643	D|T	0|0.18	-22.6529|-22.6529	13.9817|13.9817	0.64308|0.64308	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1|4	G5E9E3|Q9H6L2	.|TM231_HUMAN	L|S	1|4	ENSP00000381184:M1L|ENSP00000258173:Y4S	ENSP00000381184:M1L|ENSP00000258173:Y4S	M|Y	-|-	1|2	0|0	TMEM231|TMEM231	74147598|74147598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.672000|0.672000	0.39443|0.39443	5.793000|5.793000	0.69060|0.69060	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.672	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2		NM_001077416	
TNNT1	7138	broad.mit.edu	37	19	55645564	55645564	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4960-01A-01D-1462-08	TCGA-BP-4960-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36d21be3-2f46-47af-84aa-2305f2513aa1	3bcb9c19-2edf-45a0-8889-6b066351e8ef	g.chr19:55645564G>C	ENST00000588981.1	-	12	824	c.620C>G	c.(619-621)tCt>tGt	p.S207C	TNNT1_ENST00000585321.2_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000587465.2_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	207					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.S207C(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCCAGGCAGACCGGGCCCT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											18.0	17.0	17.0					19																	55645564		2195	4291	6486	SO:0001583	missense	7138				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.620C>G	19.37:g.55645564G>C	ENSP00000467176:p.Ser207Cys	Somatic		WXS	Illumina GAIIx	Phase_I	O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.248064	0.22880	.	.	ENSG00000105048	ENST00000291901	.	.	.	1.45	1.45	0.22620	.	.	.	.	.	T	0.15522	0.0374	N	0.03608	-0.345	0.09310	N	0.999996	B	0.27068	0.167	B	0.23419	0.046	T	0.16748	-1.0392	8	0.59425	D	0.04	.	6.3168	0.21194	0.0:0.0:1.0:0.0	.	207	P13805	TNNT1_HUMAN	C	207	.	ENSP00000291901:S207C	S	-	2	0	TNNT1	60337376	0.002000	0.14202	0.002000	0.10522	0.010000	0.07245	0.818000	0.27295	1.116000	0.41820	0.443000	0.29094	TCT		0.632	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2		NM_003283	
