#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_ORegAnno_bin	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
ADAMTS15	170689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130341137	130341137	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:130341137C>T	ENST00000299164.2	+	7	1937	c.1937C>T	c.(1936-1938)aCc>aTc	p.T646I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	646	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T646I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCTGACTCCACCTCCGTCTGT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											108.0	101.0	103.0					11																	130341137		2201	4297	6498	SO:0001583	missense	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1937C>T	11.37:g.130341137C>T	ENSP00000299164:p.Thr646Ile		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949213	0.92660	.	.	ENSG00000166106	ENST00000299164	T	0.59638	0.25	5.83	5.83	0.93111	.	.	.	.	.	T	0.64832	0.2634	L	0.60067	1.865	0.58432	D	0.999999	D	0.55800	0.973	P	0.50570	0.644	T	0.58713	-0.7588	9	0.23302	T	0.38	.	20.103	0.97881	0.0:1.0:0.0:0.0	.	646	Q8TE58	ATS15_HUMAN	I	646	ENSP00000299164:T646I	ENSP00000299164:T646I	T	+	2	0	ADAMTS15	129846347	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.453000	0.80700	2.738000	0.93877	0.655000	0.94253	ACC		0.587	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1		NM_139055	
AKAP1	8165	hgsc.bcm.edu	37	17	55183751	55183771	+	In_Frame_Del	DEL	GCTTGGATAGAAATGAGGAGG	GCTTGGATAGAAATGAGGAGG	-	rs138803240|rs373354322		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	GCTTGGATAGAAATGAGGAGG	GCTTGGATAGAAATGAGGAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:55183751_55183771delGCTTGGATAGAAATGAGGAGG	ENST00000337714.3	+	2	1159_1179	c.926_946delGCTTGGATAGAAATGAGGAGG	c.(925-948)agcttggatagaaatgaggagggc>agc	p.LDRNEEG317del	AKAP1_ENST00000539273.1_In_Frame_Del_p.LDRNEEG317del|AKAP1_ENST00000314126.3_In_Frame_Del_p.LDRNEEG317del|AKAP1_ENST00000571629.1_In_Frame_Del_p.LDRNEEG317del|AKAP1_ENST00000572557.1_In_Frame_Del_p.LDRNEEG317del	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	317					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G316S(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AATGAGGAGAGCTTGGATAGAAATGAGGAGGGCTTGGATAG	0.538																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001651	inframe_deletion	8165			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.926_946delGCTTGGATAGAAATGAGGAGG	17.37:g.55183751_55183771delGCTTGGATAGAAATGAGGAGG	ENSP00000337736:p.Leu317_Gly323del		A8K8Q1|D3DTZ0|Q13320|Q9BW14	In_Frame_Del	DEL	ENST00000337714.3	37	CCDS11594.1																																																																																				0.538	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			
ALKBH3	221120	hgsc.bcm.edu;ucsc.edu	37	11	43941531	43941532	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:43941531_43941532insATCC	ENST00000302708.4	+	10	1243_1244	c.832_833insATCC	c.(832-834)tatfs	p.-279fs	ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|RP11-613D13.4_ENST00000526408.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TCGGACAGTCTATCCAGACCCT	0.485								Direct reversal of damage																																									0																																										SO:0001589	frameshift_variant	221120			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.833_836dupATCC	11.37:g.43941532_43941535dupATCC	ENSP00000302232:p.Pro279fs		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Frame_Shift_Ins	INS	ENST00000302708.4	37	CCDS7906.1																																																																																				0.485	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389693.1		NM_139178	
ANKFN1	162282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	54452062	54452062	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:54452062A>G	ENST00000318698.2	+	7	941	c.906A>G	c.(904-906)gtA>gtG	p.V302V	ANKFN1_ENST00000566473.2_Silent_p.V302V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	302	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.V302V(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGCTGTAGTAACCAGGTATA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											163.0	144.0	150.0					17																	54452062		2203	4300	6503	SO:0001819	synonymous_variant	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.906A>G	17.37:g.54452062A>G				Silent	SNP	ENST00000318698.2	37	CCDS32686.1																																																																																				0.443	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1		NM_153228	
APBA2	321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	29346528	29346528	+	Silent	SNP	G	G	A	rs375569614		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr15:29346528G>A	ENST00000558402.1	+	5	1040	c.441G>A	c.(439-441)ccG>ccA	p.P147P	APBA2_ENST00000411764.1_Silent_p.P147P|APBA2_ENST00000561069.1_Silent_p.P147P|APBA2_ENST00000558330.1_Silent_p.P147P|APBA2_ENST00000558259.1_Silent_p.P147P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	147					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGCGGGCCCGCACCCCCACG	0.672																																																	0								G	,	0,4406		0,0,2203	42.0	41.0	41.0		441,441	-10.5	0.0	15		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	147/738,147/750	29346528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.441G>A	15.37:g.29346528G>A			E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																				0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503	
ARF1	375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228285383	228285383	+	Silent	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:228285383G>A	ENST00000541182.1	+	4	613	c.351G>A	c.(349-351)cgG>cgA	p.R117R	ARF1_ENST00000272102.5_Silent_p.R117R|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.R117R|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	117					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.R117R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				ACGAGCTCCGGGATGCTGTCC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	54.0	52.0					1																	228285383		2203	4300	6503	SO:0001819	synonymous_variant	375			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.351G>A	1.37:g.228285383G>A			P10947|P32889	Silent	SNP	ENST00000541182.1	37	CCDS1565.1																																																																																				0.642	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1		NM_001024227	
ARID4B	51742	hgsc.bcm.edu;ucsc.edu	37	1	235420512	235420512	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:235420512delA	ENST00000264183.3	-	4	643	c.146delT	c.(145-147)gtgfs	p.V49fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V49fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V49fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	49					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGAACTTCCACTGTTGAAGA	0.333																																																	0													108.0	107.0	107.0					1																	235420512		2203	4299	6502	SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.146delT	1.37:g.235420512delA	ENSP00000264183:p.Val49fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	CCDS31061.1																																																																																				0.333	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374	
ASNS	440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	97487671	97487671	+	Silent	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:97487671C>A	ENST00000394309.3	-	7	1293	c.822G>T	c.(820-822)ctG>ctT	p.L274L	ASNS_ENST00000437628.1_Silent_p.L191L|ASNS_ENST00000175506.4_Silent_p.L274L|ASNS_ENST00000444334.1_Silent_p.L253L|ASNS_ENST00000422745.1_Silent_p.L253L|ASNS_ENST00000455086.1_Silent_p.L191L|ASNS_ENST00000394308.3_Silent_p.L274L	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	274	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.L274L(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGGCTTCTTTCAGCTGCTTCA	0.493																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												1	Substitution - coding silent(1)	kidney(1)											86.0	77.0	80.0					7																	97487671		2203	4300	6503	SO:0001819	synonymous_variant	440			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.822G>T	7.37:g.97487671C>A			A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Silent	SNP	ENST00000394309.3	37	CCDS5652.1																																																																																				0.493	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1		NM_001673, NM_183356	
ASPHD2	57168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26830026	26830026	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr22:26830026A>G	ENST00000215906.5	+	2	883	c.445A>G	c.(445-447)Atc>Gtc	p.I149V		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	149					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCACAAGGGCATCCGCGAGCA	0.647																																																	0													33.0	33.0	33.0					22																	26830026		2203	4300	6503	SO:0001583	missense	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.445A>G	22.37:g.26830026A>G	ENSP00000215906:p.Ile149Val		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	8.741	0.918957	0.17982	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.42	3.36	0.38483	.	0.128107	0.53938	N	0.000052	T	0.20292	0.0488	N	0.08118	0	0.42961	D	0.994401	B	0.02656	0.0	B	0.04013	0.001	T	0.05225	-1.0898	10	0.17369	T	0.5	-30.8828	9.5763	0.39459	0.9155:0.0:0.0845:0.0	.	149	Q6ICH7	ASPH2_HUMAN	V	149	ENSP00000215906:I149V	ENSP00000215906:I149V	I	+	1	0	ASPHD2	25160026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	0.802000	0.34089	0.460000	0.39030	ATC		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1		NM_020437	
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10567377	10567377	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:10567377A>G	ENST00000396560.2	+	9	1695	c.1468A>G	c.(1468-1470)Aat>Gat	p.N490D	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.N490D|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.N490D|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.N34D|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.N490D	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N490D(1)		large_intestine(3)	3						CAATTCTCCCAATGCTGAAGT	0.284																																																	1	Substitution - Missense(1)	kidney(1)											73.0	80.0	78.0					16																	10567377		2196	4288	6484	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1468A>G	16.37:g.10567377A>G	ENSP00000379808:p.Asn490Asp		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	A	2.943	-0.218364	0.06101	.	.	ENSG00000166669	ENST00000396559;ENST00000543967;ENST00000396560;ENST00000356427;ENST00000324570	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.1	-4.32	0.03688	.	1.602270	0.03153	N	0.168197	T	0.20088	0.0483	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.001;0.006	T	0.07520	-1.0768	10	0.20046	T	0.44	9.0E-4	1.2005	0.01883	0.4736:0.1305:0.1355:0.2603	.	490;490	Q5U623-2;Q5U623	.;MCAF2_HUMAN	D	490;34;490;490;490	ENSP00000379807:N490D;ENSP00000446119:N34D;ENSP00000379808:N490D;ENSP00000348799:N490D;ENSP00000322811:N490D	ENSP00000322811:N490D	N	+	1	0	ATF7IP2	10474878	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.095000	0.11077	-0.923000	0.03785	0.533000	0.62120	AAT		0.284	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		NM_024997	
ATHL1	80162	broad.mit.edu;ucsc.edu	37	11	289868	289868	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:289868A>C	ENST00000409548.2	+	2	167	c.52A>C	c.(52-54)Agt>Cgt	p.S18R	RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409655.1_Splice_Site|ATHL1_ENST00000409479.1_Missense_Mutation_p.S18R|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	18					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.S18R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		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;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTCTGCCCAGTGACCCCCG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											75.0	81.0	79.0					11																	289868		692	1591	2283	SO:0001583	missense	80162			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.52A>C	11.37:g.289868A>C	ENSP00000387185:p.Ser18Arg		Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	ENST00000409548.2	37	CCDS31322.2	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301415	0.23736	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	4.66	0.934	0.19477	.	.	.	.	.	T	0.32133	0.0819	L	0.50333	1.59	0.18873	N	0.999988	B;B	0.16166	0.006;0.016	B;B	0.14023	0.004;0.01	T	0.27706	-1.0066	8	0.44086	T	0.13	.	3.9043	0.09176	0.4251:0.0:0.3275:0.2474	.	18;18	Q32M88;E7EMA9	ATHL1_HUMAN;.	R	18	.	ENSP00000387099:S18R	S	+	1	0	ATHL1	279868	0.000000	0.05858	0.998000	0.56505	0.650000	0.38633	-0.312000	0.08113	0.180000	0.19960	0.402000	0.26972	AGT		0.672	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3		NM_025092	
AUTS2	26053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	70228160	70228160	+	Silent	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:70228160G>A	ENST00000342771.4	+	7	1368	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	AUTS2_ENST00000406775.2_Silent_p.Q349Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	349								p.Q349Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTGAGGCCCAGCTCCAGCCTG	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	39.0	38.0					7																	70228160		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1047G>A	7.37:g.70228160G>A			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820604	0.16678	.	.	ENSG00000158321	ENST00000416482	.	.	.	5.41	2.65	0.31530	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50668	-0.8801	4	.	.	.	-18.6805	9.2009	0.37258	0.3498:0.0:0.6502:0.0	.	.	.	.	T	130	.	.	A	+	1	0	AUTS2	69866096	1.000000	0.71417	0.988000	0.46212	0.840000	0.47671	1.697000	0.37784	0.270000	0.21984	0.563000	0.77884	GCT		0.682	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			
B4GALNT4	338707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	375478	375478	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:375478C>T	ENST00000329962.6	+	9	801	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	267					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.P267P(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTTCCTGCCCGGCCTGAAGT	0.672																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	99.0	97.0					11																	375478		2203	4296	6499	SO:0001819	synonymous_variant	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.801C>T	11.37:g.375478C>T			Q96LV2	Silent	SNP	ENST00000329962.6	37	CCDS7694.1																																																																																				0.672	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2		NM_178537	
BAZ1B	9031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72877401	72877401	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:72877401G>C	ENST00000339594.4	-	12	3438	c.3100C>G	c.(3100-3102)Cta>Gta	p.L1034V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L1034V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1034					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.L1034V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCGTGCTAGATGAATAGAG	0.373																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - Missense(1)	kidney(1)											176.0	181.0	180.0					7																	72877401		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3100C>G	7.37:g.72877401G>C	ENSP00000342434:p.Leu1034Val		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964188	0.74131	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	L	0.34521	1.04	0.49389	D	0.999784	D	0.69078	0.997	D	0.78314	0.991	T	0.58504	-0.7625	10	0.27785	T	0.31	-12.8775	11.9345	0.52866	0.0878:0.0:0.9122:0.0	.	1034	Q9UIG0	BAZ1B_HUMAN	V	1034	ENSP00000342434:L1034V;ENSP00000385442:L1034V	ENSP00000342434:L1034V	L	-	1	2	BAZ1B	72515337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.564000	0.36375	2.656000	0.90262	0.591000	0.81541	CTA		0.373	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408	
BSN	8927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49662500	49662500	+	Missense_Mutation	SNP	A	A	G	rs140305957		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr3:49662500A>G	ENST00000296452.4	+	2	431	c.317A>G	c.(316-318)cAt>cGt	p.H106R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	106					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTCCTGGCCATGAGAGCCCC	0.622													A|||	1	0.000199681	0.0	0.0	5008	,	,		18050	0.001		0.0	False		,,,				2504	0.0																0								A	ARG/HIS	0,4406		0,0,2203	43.0	46.0	45.0		317	-0.3	0.1	3	dbSNP_134	45	3,8597	3.0+/-9.4	0,3,4297	yes	missense	BSN	NM_003458.3	29	0,3,6500	GG,GA,AA		0.0349,0.0,0.0231	benign	106/3927	49662500	3,13003	2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.317A>G	3.37:g.49662500A>G	ENSP00000296452:p.His106Arg		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	0.312	-0.967434	0.02232	0.0	3.49E-4	ENSG00000164061	ENST00000296452	T	0.16457	2.34	5.48	-0.277	0.12898	.	1.072000	0.07229	N	0.862209	T	0.05823	0.0152	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42292	-0.9460	10	0.13853	T	0.58	0.0016	7.2878	0.26350	0.4019:0.1821:0.416:0.0	.	106	Q9UPA5	BSN_HUMAN	R	106	ENSP00000296452:H106R	ENSP00000296452:H106R	H	+	2	0	BSN	49637504	0.008000	0.16893	0.122000	0.21767	0.034000	0.12701	0.268000	0.18571	0.006000	0.14734	-0.468000	0.05107	CAT		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458	
CCDC186	55088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115889683	115889683	+	Missense_Mutation	SNP	C	C	A	rs554900472		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr10:115889683C>A	ENST00000369287.3	-	13	2415	c.2149G>T	c.(2149-2151)Gtc>Ttc	p.V717F	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.V315F	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		717	Ser-rich.							p.V717F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATGCTGCTGACTTCTTTGTCA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											141.0	129.0	133.0					10																	115889683		2203	4300	6503	SO:0001583	missense	55088																														ENST00000369287.3:c.2149G>T	10.37:g.115889683C>A	ENSP00000358293:p.Val717Phe		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.45|13.45	2.241649|2.241649	0.39598|0.39598	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.26660	.|1.72	5.17|5.17	4.25|4.25	0.50352|0.50352	.|.	.|0.311378	.|0.35067	.|N	.|0.003477	T|T	0.24470|0.24470	0.0593|0.0593	L|L	0.39633|0.39633	1.23|1.23	0.31425|0.31425	N|N	0.673809|0.673809	.|B;P	.|0.42203	.|0.343;0.773	.|B;B	.|0.43701	.|0.118;0.428	T|T	0.12344|0.12344	-1.0551|-1.0551	5|10	.|0.23891	.|T	.|0.37	.|.	12.506|12.506	0.55981|0.55981	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	.|315;717	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	I|F	345|717;315;823	.|ENSP00000358293:V717F	.|ENSP00000358293:V717F	S|V	-|-	2|1	0|0	C10orf118|C10orf118	115879673|115879673	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	4.787000|4.787000	0.62432|0.62432	1.146000|1.146000	0.42352|0.42352	0.585000|0.585000	0.79938|0.79938	AGT|GTC		0.363	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			
PCNXL4	64430	broad.mit.edu	37	14	60591443	60591443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr14:60591443delT	ENST00000406854.1	+	9	3108	c.2554delT	c.(2554-2556)tttfs	p.F852fs	PCNXL4_ENST00000404681.2_Frame_Shift_Del_p.F852fs|PCNXL4_ENST00000317623.4_Frame_Shift_Del_p.F618fs|PCNXL4_ENST00000535349.1_Frame_Shift_Del_p.F59fs|PCNXL4_ENST00000406949.1_Frame_Shift_Del_p.F618fs			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	852						integral component of membrane (GO:0016021)											TACAAATTTGTTTATTCCAGG	0.358																																																	0													105.0	122.0	117.0					14																	60591443		2185	4251	6436	SO:0001589	frameshift_variant	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2554delT	14.37:g.60591443delT	ENSP00000384801:p.Phe852fs		A8MXM2|Q9BQG8|Q9H9F2	Frame_Shift_Del	DEL	ENST00000406854.1	37																																																																																					0.358	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1		NM_022495	
TICRR	90381	hgsc.bcm.edu;ucsc.edu	37	15	90168863	90168864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:90168863_90168864insA	ENST00000268138.7	+	20	5427_5428	c.5322_5323insA	c.(5323-5325)agafs	p.R1775fs	TICRR_ENST00000560985.1_Frame_Shift_Ins_p.R1774fs|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1775					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTCCAGGAAGAGAGTCCTGTT	0.545																																																	0																																										SO:0001589	frameshift_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5323dupA	15.37:g.90168864_90168864dupA	ENSP00000268138:p.Arg1775fs		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Frame_Shift_Ins	INS	ENST00000268138.7	37	CCDS10352.2																																																																																				0.545	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259	
C16orf62	57020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19627466	19627466	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:19627466G>C	ENST00000251143.5	+	13	1066	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000438132.3_Missense_Mutation_p.E441Q|C16orf62_ENST00000448695.1_Missense_Mutation_p.E202Q|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.E101Q			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	352						integral component of membrane (GO:0016021)		p.E441Q(1)|p.E352Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACATCTCAAAGAAACCCTAAA	0.358																																																	2	Substitution - Missense(2)	kidney(2)											99.0	101.0	100.0					16																	19627466		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1054G>C	16.37:g.19627466G>C	ENSP00000251143:p.Glu352Gln		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.751918	0.89753	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	T;T;T	0.36157	1.27;1.27;1.27	5.53	5.53	0.82687	.	0.050375	0.85682	D	0.000000	T	0.48624	0.1510	M	0.63843	1.955	0.58432	D	0.999999	P;P	0.50272	0.933;0.893	P;P	0.49853	0.542;0.624	T	0.40001	-0.9586	9	.	.	.	-17.1402	19.0704	0.93134	0.0:0.0:1.0:0.0	.	352;441	Q7Z3J2;E7EWW0	CP062_HUMAN;.	Q	441;352;202	ENSP00000400815:E441Q;ENSP00000251143:E352Q;ENSP00000398009:E202Q	.	E	+	1	0	C16orf62	19534967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.599000	0.87857	0.655000	0.94253	GAA		0.358	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_020314	
OGFOD3	79701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80369360	80369360	+	Silent	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr17:80369360G>T	ENST00000313056.5	-	3	502	c.351C>A	c.(349-351)atC>atA	p.I117I	OGFOD3_ENST00000329197.5_Silent_p.I117I	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.I117I(2)									CCTCCCTGGTGATGACGACAT	0.632																																																	2	Substitution - coding silent(2)	kidney(2)											113.0	81.0	92.0					17																	80369360		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.351C>A	17.37:g.80369360G>T			C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	CCDS11811.1																																																																																				0.632	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1		NM_175902	
SMG9	56006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44237823	44237823	+	Silent	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr19:44237823G>A	ENST00000270066.6	-	11	1507	c.1165C>T	c.(1165-1167)Ctg>Ttg	p.L389L	SMG9_ENST00000601170.1_Silent_p.L389L	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	389					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)	p.L389L(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TCAATCATCAGGTGCATCTGC	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	79.0	80.0					19																	44237823		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.1165C>T	19.37:g.44237823G>A			O60429|Q9H9A9	Silent	SNP	ENST00000270066.6	37	CCDS33043.2																																																																																				0.567	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1		NM_019108	
C1S	716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7177661	7177661	+	Silent	SNP	T	T	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr12:7177661T>G	ENST00000406697.1	+	15	2401	c.1773T>G	c.(1771-1773)ccT>ccG	p.P591P	C1S_ENST00000402681.3_Silent_p.P424P|C1S_ENST00000360817.5_Silent_p.P591P|C1S_ENST00000328916.3_Silent_p.P591P			P09871	C1S_HUMAN	complement component 1, s subcomponent	591	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P591P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGTAGCTCCTTTAAGAAAAT	0.517																																					GBM(156;750 1943 12971 24779 31015)												1	Substitution - coding silent(1)	kidney(1)											76.0	77.0	77.0					12																	7177661		2203	4300	6503	SO:0001819	synonymous_variant	716				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1773T>G	12.37:g.7177661T>G			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	CCDS31735.1																																																																																				0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1		NM_001734	
PRR14L	253143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32112375	32112375	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:32112375G>C	ENST00000327423.6	-	4	1639	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	PRR14L_ENST00000434485.1_Missense_Mutation_p.Q484E|PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000397493.2_Missense_Mutation_p.Q484E	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	484								p.Q484E(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AAGTTACCTTGAACGTGTACA	0.368											OREG0003537	type=REGULATORY REGION|Gene=NM_032234|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					2	Substitution - Missense(2)	kidney(2)											84.0	72.0	75.0					22																	32112375		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1450C>G	22.37:g.32112375G>C	ENSP00000331845:p.Gln484Glu	829	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	CCDS13900.2	.	.	.	.	.	.	.	.	.	.	G	4.534	0.099097	0.08681	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06687	3.27;3.27;3.27	5.4	4.37	0.52481	.	0.388740	0.21895	N	0.067537	T	0.10937	0.0267	L	0.47716	1.5	0.09310	N	1	P;P;P	0.40180	0.705;0.573;0.573	B;B;B	0.41510	0.359;0.164;0.164	T	0.10064	-1.0646	9	.	.	.	0.0	13.7361	0.62817	0.0:0.1539:0.8461:0.0	.	484;484;484	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	E	484	ENSP00000380630:Q484E;ENSP00000331845:Q484E;ENSP00000388314:Q484E	.	Q	-	1	0	PRR14L	30442375	0.008000	0.16893	0.007000	0.13788	0.002000	0.02628	0.848000	0.27710	1.388000	0.46506	0.655000	0.94253	CAA		0.368	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2		NM_173566	
CD3G	917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118221315	118221315	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:118221315T>C	ENST00000532917.1	+	4	424	c.356T>C	c.(355-357)cTc>cCc	p.L119P	CD3G_ENST00000392883.2_Intron|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	119					cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.L119P(1)		breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TCTGGCTTTCTCTTTGCTGAA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											186.0	160.0	169.0					11																	118221315		2200	4296	6496	SO:0001583	missense	917			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.356T>C	11.37:g.118221315T>C	ENSP00000431445:p.Leu119Pro		Q2HIZ6	Missense_Mutation	SNP	ENST00000532917.1	37	CCDS8395.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974849	0.34848	.	.	ENSG00000160654	ENST00000532917	T	0.56275	0.47	5.76	5.76	0.90799	.	0.775582	0.12525	N	0.461336	T	0.45316	0.1336	N	0.19112	0.55	0.80722	D	1	P	0.44877	0.845	P	0.44732	0.459	T	0.45498	-0.9257	10	0.87932	D	0	.	12.4788	0.55829	0.0:0.0:0.0:1.0	.	119	P09693	CD3G_HUMAN	P	119	ENSP00000431445:L119P	ENSP00000431445:L119P	L	+	2	0	CD3G	117726525	0.957000	0.32711	0.886000	0.34754	0.044000	0.14063	4.175000	0.58263	2.202000	0.70862	0.533000	0.62120	CTC		0.453	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1		NM_000073	
CD7	924	hgsc.bcm.edu	37	17	80274142	80274168	+	In_Frame_Del	DEL	CAGGGAGGGCAGAGGCTGCTGGCGGGT	CAGGGAGGGCAGAGGCTGCTGGCGGGT	-	rs201027731|rs200504177|rs555569626|rs569923406|rs569922181|rs199836102	byFrequency	TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	CAGGGAGGGCAGAGGCTGCTGGCGGGT	CAGGGAGGGCAGAGGCTGCTGGCGGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:80274142_80274168delCAGGGAGGGCAGAGGCTGCTGGCGGGT	ENST00000312648.3	-	3	621_647	c.515_541delACCCGCCAGCAGCCTCTGCCCTCCCTG	c.(514-543)gacccgccagcagcctctgccctccctgcg>gcg	p.DPPAASALP172del	CD7_ENST00000583376.1_In_Frame_Del_p.DPPAASALP72del|CD7_ENST00000578509.1_In_Frame_Del_p.DPPAASALP72del|CD7_ENST00000584284.1_In_Frame_Del_p.DPPAASALP172del	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	172	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCCAGGGCCGCAGGGAGGGCAGAGGCTGCTGGCGGGTCAGGGAGGGC	0.714																																					Pancreas(45;804 1068 19702 28207 28798)												0										46,4026		10,26,2000						-6.3	0.0			12	351,7627		58,235,3696	no	coding	CD7	NM_006137.6		68,261,5696	A1A1,A1R,RR		4.3996,1.1297,3.2946				397,11653				SO:0001651	inframe_deletion	924			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.515_541delACCCGCCAGCAGCCTCTGCCCTCCCTG	17.37:g.80274142_80274168delCAGGGAGGGCAGAGGCTGCTGGCGGGT	ENSP00000312027:p.Asp172_Pro180del			In_Frame_Del	DEL	ENST00000312648.3	37	CCDS11807.1																																																																																				0.714	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1		NM_006137	
CEP350	9857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180063129	180063129	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:180063129G>T	ENST00000367607.3	+	34	8307	c.7889G>T	c.(7888-7890)aGt>aTt	p.S2630I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											37.0	40.0	39.0					1																	180063129		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7889G>T	1.37:g.180063129G>T	ENSP00000356579:p.Ser2630Ile		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.336|1.336	-0.595465|-0.595465	0.03771|0.03771	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|T	.|0.59772	.|0.24	2.15|2.15	0.983|0.983	0.19767|0.19767	.|.	.|.	.|.	.|.	.|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.23084|0.23084	-1.0198|-1.0198	5|8	.|.	.|.	.|.	.|.	5.4385|5.4385	0.16494|0.16494	0.6897:0.0:0.3103:0.0|0.6897:0.0:0.3103:0.0	.|.	.|2630;2630	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	N|I	804|2630;94	.|ENSP00000356579:S2630I	.|.	K|S	+|+	3|2	2|0	CEP350|CEP350	178329752|178329752	0.000000|0.000000	0.05858|0.05858	0.551000|0.551000	0.28230|0.28230	0.817000|0.817000	0.46193|0.46193	0.141000|0.141000	0.16076|0.16076	0.258000|0.258000	0.21686|0.21686	-0.383000|-0.383000	0.06682|0.06682	AAG|AGT		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810	
CHD2	1106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	93489310	93489310	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:93489310T>C	ENST00000394196.4	+	12	2309	c.1241T>C	c.(1240-1242)cTa>cCa	p.L414P	CHD2_ENST00000536619.1_Missense_Mutation_p.L427P|CHD2_ENST00000420239.2_Missense_Mutation_p.L414P|CHD2_ENST00000557381.1_Missense_Mutation_p.L414P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	414	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.L414P(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCGAATATCTATGTAAATGG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											76.0	78.0	77.0					15																	93489310		2197	4298	6495	SO:0001583	missense	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1241T>C	15.37:g.93489310T>C	ENSP00000377747:p.Leu414Pro		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457455	0.84317	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.2	5.2	0.72013	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.27991	U	0.017031	D	0.92993	0.7770	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.996;0.999;0.976	D	0.94614	0.7807	10	0.87932	D	0	-29.8649	15.3599	0.74464	0.0:0.0:0.0:1.0	.	427;414;414	B7Z3I4;O14647;O14647-2	.;CHD2_HUMAN;.	P	414;414;414;427	ENSP00000377747:L414P;ENSP00000451366:L414P;ENSP00000406581:L414P;ENSP00000443618:L427P	ENSP00000311700:L152P	L	+	2	0	CHD2	91290314	1.000000	0.71417	0.990000	0.47175	0.866000	0.49608	7.655000	0.83696	2.097000	0.63578	0.460000	0.39030	CTA		0.393	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271	
CNOT6	57472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179998388	179998388	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:179998388G>C	ENST00000393356.1	+	13	1841	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	CNOT6_ENST00000261951.4_Missense_Mutation_p.E473Q			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	473	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.E473Q(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAGTGCCTATGAGAGTGGCCT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											142.0	129.0	133.0					5																	179998388		2203	4300	6503	SO:0001583	missense	57472			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1417G>C	5.37:g.179998388G>C	ENSP00000377024:p.Glu473Gln		A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396138	0.62177	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.80909	-1.43;-1.43	5.63	5.63	0.86233	Endonuclease/exonuclease/phosphatase (2);	0.050513	0.85682	D	0.000000	T	0.75162	0.3812	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.29077	0.098	T	0.69522	-0.5123	9	.	.	.	-7.8326	19.6755	0.95930	0.0:0.0:1.0:0.0	.	473	Q9ULM6	CNOT6_HUMAN	Q	473	ENSP00000261951:E473Q;ENSP00000377024:E473Q	.	E	+	1	0	CNOT6	179930994	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	9.869000	0.99810	2.652000	0.90054	0.563000	0.77884	GAG		0.423	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1		NM_015455	
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94038888	94038888	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr7:94038888G>T	ENST00000297268.6	+	18	1375	c.904G>T	c.(904-906)Gca>Tca	p.A302S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	302					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.A302S(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)	TAATCCTGGAGCAAACGGCCT	0.433										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	kidney(1)											138.0	142.0	141.0					7																	94038888		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.904G>T	7.37:g.94038888G>T	ENSP00000297268:p.Ala302Ser		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	8.271	0.813265	0.16537	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.83755	-1.76	5.73	3.9	0.45041	.	0.232106	0.43260	D	0.000589	T	0.67325	0.2881	N	0.11724	0.165	0.43076	D	0.994728	B	0.06786	0.001	B	0.12156	0.007	T	0.58171	-0.7683	10	0.13853	T	0.58	.	13.0003	0.58672	0.133:0.0:0.867:0.0	.	302	P08123	CO1A2_HUMAN	S	302;303	ENSP00000297268:A302S	ENSP00000297268:A302S	A	+	1	0	COL1A2	93876824	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	2.022000	0.41030	0.870000	0.35726	0.655000	0.94253	GCA		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089	
COL2A1	1280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48381066	48381066	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr12:48381066C>G	ENST00000380518.3	-	20	1416	c.1252G>C	c.(1252-1254)Gcc>Ccc	p.A418P	COL2A1_ENST00000337299.6_Missense_Mutation_p.A349P|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	418	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.A418P(1)|p.A349P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATCCTTTGGCTCCAGGAATT	0.552																																																	2	Substitution - Missense(2)	kidney(2)											75.0	79.0	78.0					12																	48381066		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1252G>C	12.37:g.48381066C>G	ENSP00000369889:p.Ala418Pro		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543453	0.65198	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.90133	-2.62;-2.62	4.68	4.68	0.58851	.	0.064020	0.64402	D	0.000012	D	0.89639	0.6773	N	0.05306	-0.075	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.87578	0.993;0.998	D	0.92121	0.5704	10	0.62326	D	0.03	.	16.9284	0.86183	0.0:1.0:0.0:0.0	.	349;418	P02458-1;P02458	.;CO2A1_HUMAN	P	418;349;349	ENSP00000369889:A418P;ENSP00000338213:A349P	ENSP00000338213:A349P	A	-	1	0	COL2A1	46667333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.756000	0.62205	2.605000	0.88082	0.655000	0.94253	GCC		0.552	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		NM_001844	
COL6A6	131873	broad.mit.edu	37	3	130284103	130284103	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:130284103A>G	ENST00000358511.6	+	3	958	c.927A>G	c.(925-927)ggA>ggG	p.G309G	COL6A6_ENST00000453409.2_Silent_p.G309G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	309	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G309G(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCTATACTGGAGCTGCCATCA	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	74.0	73.0					3																	130284103		1866	4104	5970	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.927A>G	3.37:g.130284103A>G			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CPNE1	8904	broad.mit.edu;ucsc.edu	37	20	34214664	34214664	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr20:34214664T>G	ENST00000317619.3	-	17	1692	c.1298A>C	c.(1297-1299)gAg>gCg	p.E433A	CPNE1_ENST00000397445.1_Missense_Mutation_p.E433A|CPNE1_ENST00000397443.1_Missense_Mutation_p.E433A|CPNE1_ENST00000317677.5_Missense_Mutation_p.E438A|CPNE1_ENST00000397442.1_Missense_Mutation_p.E433A|CPNE1_ENST00000397446.1_Missense_Mutation_p.E433A|CPNE1_ENST00000352393.4_Missense_Mutation_p.E433A			Q99829	CPNE1_HUMAN	copine I	433	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E433A(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACCACAGCCTCACGTGTGGC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											162.0	106.0	125.0					20																	34214664		2203	4300	6503	SO:0001583	missense	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1298A>C	20.37:g.34214664T>G	ENSP00000326126:p.Glu433Ala		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354301	0.61293	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.27	5.27	0.74061	von Willebrand factor, type A (1);Copine (1);	0.465199	0.22614	U	0.057791	T	0.26268	0.0641	L	0.42008	1.315	0.34600	D	0.716424	B;B;B;B;B	0.15719	0.0;0.001;0.014;0.004;0.01	B;B;B;B;B	0.25759	0.004;0.005;0.063;0.021;0.02	T	0.26744	-1.0094	10	0.49607	T	0.09	-9.4262	14.3138	0.66434	0.0:0.0:0.0:1.0	.	438;433;433;413;432	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	A	433;438;433;433;433;433;433;432	ENSP00000336945:E433A;ENSP00000317257:E438A;ENSP00000326126:E433A;ENSP00000380588:E433A;ENSP00000380587:E433A;ENSP00000380585:E433A;ENSP00000380584:E433A;ENSP00000415597:E432A	ENSP00000326126:E433A	E	-	2	0	CPNE1	33678078	0.783000	0.28701	0.995000	0.50966	0.897000	0.52465	4.875000	0.63072	2.209000	0.71365	0.460000	0.39030	GAG		0.567	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930	
CSMD2	114784	hgsc.bcm.edu;ucsc.edu	37	1	34286089	34286091	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	TTT	TTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:34286089_34286091delTTT	ENST00000373381.4	-	8	1354_1356	c.1178_1180delAAA	c.(1177-1182)aaaaga>aga	p.K393del		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	353	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCCTAGTCTTTTGCCCCTTTC	0.463																																																	0																																										SO:0001651	inframe_deletion	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1178_1180delAAA	1.37:g.34286089_34286091delTTT	ENSP00000362479:p.Lys393del		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	In_Frame_Del	DEL	ENST00000373381.4	37																																																																																					0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896	
CSNK2B	1460	hgsc.bcm.edu	37	6	31637658	31637659	+	Frame_Shift_Del	DEL	CC	CC	-	rs76915685		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr6:31637658_31637659delCC	ENST00000375882.2	+	7	759_760	c.603_604delCC	c.(601-606)ctccaafs	p.Q202fs	LY6G5B_ENST00000375864.4_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|CSNK2B_ENST00000375865.2_Frame_Shift_Del_p.Q202fs|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375866.2_Frame_Shift_Del_p.Q202fs|CSNK2B_ENST00000375885.4_Frame_Shift_Del_p.Q221fs	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	202					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						AGCTGCAGCTCCAAGCCGCCAG	0.574																																																	0																																										SO:0001589	frameshift_variant	1460			M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.603_604delCC	6.37:g.31637658_31637659delCC	ENSP00000365042:p.Gln202fs		B0UXA9|P07312|P13862|Q4VX47	Frame_Shift_Del	DEL	ENST00000375882.2	37	CCDS4712.1																																																																																				0.574	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8		NM_001320	
DENND2C	163259	broad.mit.edu;hgsc.bcm.edu	37	1	115166246	115166246	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:115166246C>A	ENST00000393274.1	-	5	1450	c.825G>T	c.(823-825)gaG>gaT	p.E275D	DENND2C_ENST00000393277.1_Missense_Mutation_p.E275D|DENND2C_ENST00000393276.3_Missense_Mutation_p.E275D|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	275					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E275D(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGAATATCCTCAAATTCAA	0.289																																																	1	Substitution - Missense(1)	kidney(1)											67.0	65.0	66.0					1																	115166246		2202	4300	6502	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.825G>T	1.37:g.115166246C>A	ENSP00000376955:p.Glu275Asp		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942236	0.73672	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.50813	1.03;2.71;0.73	6.06	-0.516	0.11950	.	0.123171	0.56097	D	0.000031	T	0.55673	0.1935	M	0.80332	2.49	0.44611	D	0.997581	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.63088	-0.6715	10	0.87932	D	0	.	10.4276	0.44387	0.0:0.4999:0.0:0.5001	.	275;275	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	275	ENSP00000376957:E275D;ENSP00000376955:E275D;ENSP00000376958:E275D	ENSP00000358553:E275D	E	-	3	2	DENND2C	114967769	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	0.331000	0.19733	0.084000	0.17077	-0.150000	0.13652	GAG		0.289	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459	
DFNB31	25861	hgsc.bcm.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr9:117185698_117185699insC	ENST00000362057.3	-	7	1689_1690	c.1521_1522insG	c.(1519-1524)cagcccfs	p.P508fs	DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.P157fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.P125fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	508					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCCTGGGGGCTGCCGCGCCT	0.639																																																	0																																										SO:0001589	frameshift_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1522dupG	9.37:g.117185699_117185699dupC	ENSP00000354623:p.Pro508fs		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Frame_Shift_Ins	INS	ENST00000362057.3	37	CCDS6806.1																																																																																				0.639	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2		NM_015404	
DNAJC17	55192	hgsc.bcm.edu	37	15	41068801	41068802	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:41068801_41068802insC	ENST00000220496.4	-	5	349_350	c.319_320insG	c.(319-321)gccfs	p.A107fs		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	107					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTGGGCCTGGGCCTGCCGCTCC	0.629																																																	0																																										SO:0001589	frameshift_variant	55192			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.320dupG	15.37:g.41068803_41068803dupC	ENSP00000220496:p.Ala107fs			Frame_Shift_Ins	INS	ENST00000220496.4	37	CCDS10065.1																																																																																				0.629	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2		NM_018163	
DOPEY1	23033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	83823098	83823098	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:83823098A>G	ENST00000349129.2	+	7	998	c.738A>G	c.(736-738)acA>acG	p.T246T	DOPEY1_ENST00000369739.3_Silent_p.T246T|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.T246T	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	246					protein transport (GO:0015031)			p.T246T(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAGAAGCACACTGGACCTCA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											174.0	151.0	159.0					6																	83823098		2203	4300	6503	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.738A>G	6.37:g.83823098A>G			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	CCDS4996.1																																																																																				0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018	
EIF2S3	1968	hgsc.bcm.edu	37	X	24073090	24073091	+	In_Frame_Ins	INS	-	-	GGG			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chrX:24073090_24073091insGGG	ENST00000253039.4	+	1	258_259	c.5_6insGGG	c.(4-9)gcgggc>gcGGGgggc	p.4_5insG		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GGCAACATGGCGGGCGGAGAAG	0.609											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001652	inframe_insertion	1968			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.6_8dupGGG	X.37:g.24073091_24073093dupGGG	ENSP00000253039:p.Gly4_Gly4dup	768	B5BTZ4	In_Frame_Ins	INS	ENST00000253039.4	37	CCDS14210.1																																																																																				0.609	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1		NM_001415	
EMILIN2	84034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	2891711	2891711	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr18:2891711G>C	ENST00000254528.3	+	4	1745	c.1586G>C	c.(1585-1587)gGg>gCg	p.G529A		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	529					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.G529A(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAGTGTCAGGGTCAGGAGAT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											70.0	72.0	71.0					18																	2891711		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1586G>C	18.37:g.2891711G>C	ENSP00000254528:p.Gly529Ala		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.042046	0.35989	.	.	ENSG00000132205	ENST00000254528	T	0.34275	1.37	5.23	4.34	0.51931	.	0.243125	0.35407	N	0.003232	T	0.41213	0.1149	M	0.76002	2.32	0.37943	D	0.932406	B	0.18310	0.027	B	0.24006	0.05	T	0.40289	-0.9571	10	0.25106	T	0.35	-24.2578	15.6916	0.77457	0.0:0.1374:0.8626:0.0	.	529	Q9BXX0	EMIL2_HUMAN	A	529	ENSP00000254528:G529A	ENSP00000254528:G529A	G	+	2	0	EMILIN2	2881711	0.247000	0.23920	0.022000	0.16811	0.005000	0.04900	1.003000	0.29809	1.157000	0.42530	0.563000	0.77884	GGG		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048	
GREB1L	80000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	19029597	19029597	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr18:19029597T>A	ENST00000580732.2	+	12	1901	c.1520T>A	c.(1519-1521)cTc>cAc	p.L507H	GREB1L_ENST00000269218.6_Intron|SNORD23_ENST00000408212.1_RNA|GREB1L_ENST00000424526.1_Missense_Mutation_p.L507H|GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000431264.1_Missense_Mutation_p.L507H|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000400483.4_Missense_Mutation_p.L507H			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	507						integral component of membrane (GO:0016021)		p.L508H(1)|p.L507H(1)		breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CCAGGACAACTCCCCTGGCTT	0.473																																																	2	Substitution - Missense(2)	kidney(2)											158.0	138.0	144.0					18																	19029597		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.1520T>A	18.37:g.19029597T>A	ENSP00000464162:p.Leu507His		A4QN17|Q9H8F1	Missense_Mutation	SNP	ENST00000580732.2	37	CCDS45836.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468858	0.43839	.	.	ENSG00000141449	ENST00000424526;ENST00000400483;ENST00000431264	T;T;T	0.36699	2.03;1.24;1.24	5.27	5.27	0.74061	.	.	.	.	.	T	0.61035	0.2315	M	0.75777	2.31	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65932	-0.6048	9	0.87932	D	0	-3.9754	15.4757	0.75478	0.0:0.0:0.0:1.0	.	507;507	Q9C091;Q9C091-2	GRB1L_HUMAN;.	H	507	ENSP00000412060:L507H;ENSP00000383331:L507H;ENSP00000393125:L507H	ENSP00000383331:L507H	L	+	2	0	GREB1L	17283595	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.655000	0.83696	2.131000	0.65755	0.533000	0.62120	CTC		0.473	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2		NM_024935	
HAPLN1	1404	broad.mit.edu;hgsc.bcm.edu	37	5	82940357	82940357	+	Silent	SNP	G	G	T	rs369262984		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr5:82940357G>T	ENST00000274341.4	-	4	1450	c.600C>A	c.(598-600)ggC>ggA	p.G200G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	200	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AGTCCAGCCCGCCCCGCCAGG	0.622																																																	0													40.0	44.0	42.0					5																	82940357		2203	4300	6503	SO:0001819	synonymous_variant	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.600C>A	5.37:g.82940357G>T			B2R9A9	Silent	SNP	ENST00000274341.4	37	CCDS4061.1																																																																																				0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2		NM_001884	
RP3-470B24.5	0	broad.mit.edu	37	6	168376847	168376847	+	lincRNA	SNP	C	C	G	rs77867907		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:168376847C>G	ENST00000538528.1	-	0	772																											GTGTGGGGAGCAGGAGGCAGT	0.617																																																	0													32.0	30.0	30.0					6																	168376847		692	1591	2283			100128124																															6.37:g.168376847C>G				Silent	SNP	ENST00000538528.1	37																																																																																					0.617	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA				
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	TCGCTGTCGCCA	TCGCTGTCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374																2	Deletion - In frame(2)	large_intestine(1)|breast(1)								958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del		Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1		NM_198471	
KCNB2	9312	hgsc.bcm.edu;ucsc.edu	37	8	73849964	73849964	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr8:73849964delA	ENST00000523207.1	+	3	2962	c.2374delA	c.(2374-2376)aaafs	p.K792fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	792					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCCCAAGCAGAAACTGTTCCC	0.547																																																	0													43.0	48.0	46.0					8																	73849964		2203	4300	6503	SO:0001589	frameshift_variant	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2374delA	8.37:g.73849964delA	ENSP00000430846:p.Lys792fs		Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	ENST00000523207.1	37	CCDS6209.1																																																																																				0.547	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770	
KRTAP10-6	386674	broad.mit.edu	37	21	46012291	46012291	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr21:46012291A>G	ENST00000400368.1	-	1	95	c.75T>C	c.(73-75)tgT>tgC	p.C25C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	25						keratin filament (GO:0045095)		p.C25C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGCAAGAGTCACAGGAACCAG	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	60.0	59.0					21																	46012291		2108	4212	6320	SO:0001819	synonymous_variant	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.75T>C	21.37:g.46012291A>G				Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																				0.677	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1		NM_198688	
LOC401127	401127	broad.mit.edu	37	4	39482474	39482474	+	RNA	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr4:39482474A>C	ENST00000513652.1	+	0	481																											GGGACACAGTAATTATGTCTT	0.448																																																	0																																												401127																															4.37:g.39482474A>C				RNA	SNP	ENST00000513652.1	37																																																																																					0.448	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			
PTGER4P2	5736	broad.mit.edu	37	9	66499867	66499867	+	IGR	SNP	T	T	C	rs7862419	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr9:66499867T>C								RP11-262H14.1 (30557 upstream) : RP11-262H14.7 (17338 downstream)																							TTCACTTTGCTGGTGAGCCAG	0.567																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499867T>C				Missense_Mutation	SNP		37																																																																																				0	0.567									
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86050475	86050475	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr8:86050475A>C	ENST00000360375.3	+	16	2848	c.2699A>C	c.(2698-2700)tAc>tCc	p.Y900S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Y880S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	900					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y900S(1)|p.Y880S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAAAAGCTTACAGGTATTAT	0.294																																																	2	Substitution - Missense(2)	kidney(2)											42.0	41.0	42.0					8																	86050475		1801	4065	5866	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2699A>C	8.37:g.86050475A>C	ENSP00000353538:p.Tyr900Ser		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084156	0.76642	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.33438	1.41;1.41	5.58	5.58	0.84498	.	0.000000	0.34580	N	0.003850	T	0.50684	0.1630	M	0.63843	1.955	0.52501	D	0.999958	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.72075	0.943;0.976;0.94	T	0.41448	-0.9508	10	0.21540	T	0.41	-9.7411	15.3941	0.74778	1.0:0.0:0.0:0.0	.	880;807;900	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	S	900;880	ENSP00000353538:Y900S;ENSP00000394695:Y880S	ENSP00000353538:Y900S	Y	+	2	0	LRRCC1	86237727	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.283000	0.72646	2.118000	0.64928	0.528000	0.53228	TAC		0.294	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402	
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75659878	75659878	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:75659878C>G	ENST00000267978.5	-	3	371	c.325G>C	c.(325-327)Gtg>Ctg	p.V109L	MAN2C1_ENST00000569482.1_Missense_Mutation_p.V109L|MAN2C1_ENST00000565683.1_Missense_Mutation_p.V109L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V109L|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000563539.1_5'UTR	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	109					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V109L(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TCACGCCACACCAGACCTTCT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											160.0	119.0	133.0					15																	75659878		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.325G>C	15.37:g.75659878C>G	ENSP00000267978:p.Val109Leu		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721256	0.48728	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.22539	1.95	4.7	3.72	0.42706	.	0.072182	0.53938	D	0.000042	T	0.18509	0.0444	L	0.41236	1.265	0.47441	D	0.99942	B;B;B	0.15719	0.014;0.008;0.008	B;B;B	0.15052	0.012;0.007;0.007	T	0.04373	-1.0956	10	0.39692	T	0.17	-23.4198	13.809	0.63250	0.1529:0.8471:0.0:0.0	.	109;109;109	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	L	109	ENSP00000267978:V109L	ENSP00000267978:V109L	V	-	1	0	MAN2C1	73446931	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.564000	0.53791	2.311000	0.77944	0.561000	0.74099	GTG		0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			
MAP7	9053	hgsc.bcm.edu;ucsc.edu	37	6	136710548	136710548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:136710548delC	ENST00000354570.3	-	4	762	c.352delG	c.(352-354)gagfs	p.E118fs	MAP7_ENST00000454590.1_Frame_Shift_Del_p.E140fs|MAP7_ENST00000544465.1_Frame_Shift_Del_p.E103fs|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000438100.2_Frame_Shift_Del_p.E140fs	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	118					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCCTCCGCTCCTCCTTCTGC	0.567																																																	0													130.0	124.0	126.0					6																	136710548		2203	4300	6503	SO:0001589	frameshift_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.352delG	6.37:g.136710548delC	ENSP00000346581:p.Glu118fs		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Frame_Shift_Del	DEL	ENST00000354570.3	37	CCDS5178.1																																																																																				0.567	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2		NM_003980	
MAPKBP1	23005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42107967	42107967	+	Missense_Mutation	SNP	T	T	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:42107967T>A	ENST00000456763.2	+	13	1677	c.1481T>A	c.(1480-1482)cTa>cAa	p.L494Q	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.L371Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.L327Q|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.L488Q|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.L488Q	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	494								p.L488Q(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGACAGCATCTAGCATCAGGG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											81.0	73.0	75.0					15																	42107967		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1481T>A	15.37:g.42107967T>A	ENSP00000393099:p.Leu494Gln		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	t	31	5.082578	0.94050	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.75154	4.27;-0.31;0.43;-0.91;0.43	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066131	0.64402	D	0.000007	D	0.90407	0.6997	H	0.95151	3.63	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.986;0.999;0.998	D	0.93155	0.6553	10	0.87932	D	0	-6.1328	16.1882	0.81967	0.0:0.0:0.0:1.0	.	327;488;494;488	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	Q	488;371;327;494;488	ENSP00000397570:L488Q;ENSP00000221214:L371Q;ENSP00000260357:L327Q;ENSP00000393099:L494Q;ENSP00000426154:L488Q	ENSP00000221214:L371Q	L	+	2	0	MAPKBP1	39895259	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	8.037000	0.88933	2.231000	0.72958	0.454000	0.30748	CTA		0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		NM_014994	
MARK2	2011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63670173	63670173	+	Silent	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr11:63670173G>T	ENST00000509502.2	+	13	1696	c.1233G>T	c.(1231-1233)cgG>cgT	p.R411R	MARK2_ENST00000350490.7_Silent_p.R444R|MARK2_ENST00000377809.4_Silent_p.R445R|MARK2_ENST00000513765.2_Silent_p.R412R|MARK2_ENST00000502399.3_Silent_p.R444R|MARK2_ENST00000425897.2_Silent_p.R411R|MARK2_ENST00000413835.2_Silent_p.R445R|MARK2_ENST00000315032.8_Silent_p.R445R|MARK2_ENST00000361128.5_Silent_p.R445R|MARK2_ENST00000408948.3_Silent_p.R411R|MARK2_ENST00000508192.1_Silent_p.R444R|MARK2_ENST00000402010.2_Silent_p.R445R|MARK2_ENST00000377810.3_Silent_p.R411R	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R411R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTCAGGGCGGAAAGCCAGCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	48.0	47.0					11																	63670173		2201	4297	6498	SO:0001819	synonymous_variant	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1233G>T	11.37:g.63670173G>T				Silent	SNP	ENST00000509502.2	37	CCDS41665.1																																																																																				0.612	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490	
MDGA1	266727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	37615095	37615095	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:37615095C>T	ENST00000434837.3	-	10	3078	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	MDGA1_ENST00000510077.1_Intron|MDGA1_ENST00000505425.1_Missense_Mutation_p.A634T|MDGA1_ENST00000297153.7_Missense_Mutation_p.A637T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	634					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.A636T(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGGCTGTAGGCTTTGGCTAAG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											13.0	13.0	13.0					6																	37615095		1801	3909	5710	SO:0001583	missense	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1900G>A	6.37:g.37615095C>T	ENSP00000402584:p.Ala634Thr		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607743	0.87258	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.55588	0.51;0.64;0.53	5.08	5.08	0.68730	.	0.000000	0.47093	D	0.000249	T	0.43144	0.1234	L	0.58101	1.795	0.43457	D	0.995655	P	0.47762	0.9	B	0.42214	0.38	T	0.51849	-0.8653	10	0.56958	D	0.05	.	17.4775	0.87664	0.0:1.0:0.0:0.0	.	634	Q8NFP4	MDGA1_HUMAN	T	634;637;634	ENSP00000402584:A634T;ENSP00000297153:A637T;ENSP00000422042:A634T	ENSP00000297153:A637T	A	-	1	0	MDGA1	37723073	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.231000	0.58639	2.362000	0.80069	0.655000	0.94253	GCC		0.607	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			
MDN1	23195	hgsc.bcm.edu;ucsc.edu	37	6	90440533	90440534	+	Frame_Shift_Ins	INS	-	-	T	rs146623600		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:90440533_90440534insT	ENST00000369393.3	-	35	5166_5167	c.5051_5052insA	c.(5050-5052)aatfs	p.N1684fs	MDN1_ENST00000428876.1_Frame_Shift_Ins_p.N1684fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1684					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTTCAACTCATTTTTCTGATA	0.371																																																	0																																										SO:0001589	frameshift_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5052dupA	6.37:g.90440538_90440538dupT	ENSP00000358400:p.Asn1684fs		O15019|Q5T794	Frame_Shift_Ins	INS	ENST00000369393.3	37	CCDS5024.1																																																																																				0.371	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			
MFSD3	113655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145735861	145735861	+	Silent	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr8:145735861C>A	ENST00000301327.4	+	2	1061	c.801C>A	c.(799-801)tcC>tcA	p.S267S	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	267	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S267S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCTCCTCCCTGGGTGGGA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	123.0	125.0					8																	145735861		2203	4300	6503	SO:0001819	synonymous_variant	113655				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.801C>A	8.37:g.145735861C>A				Silent	SNP	ENST00000301327.4	37	CCDS6431.1																																																																																				0.617	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431	
MICU1	10367	hgsc.bcm.edu;ucsc.edu	37	10	74269155	74269155	+	Intron	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr10:74269155C>T	ENST00000361114.5	-	6	634				MICU1_ENST00000401998.3_Intron|MICU1_ENST00000398761.4_Intron|MICU1_ENST00000398763.4_Intron|MICU1_ENST00000418483.2_Intron	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1						calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CAATGGGTTACCTCTGTCTAG	0.418																																																	0													90.0	87.0	88.0					10																	74269155		2006	4190	6196	SO:0001627	intron_variant	100302155			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.538-1128G>A	10.37:g.74269155C>T			A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	RNA	SNP	ENST00000361114.5	37	CCDS55715.1																																																																																				0.418	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1		NM_006077	
MPZL2	10205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118133354	118133354	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:118133354A>G	ENST00000278937.2	-	3	363	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	MPZL2_ENST00000525647.1_5'Flank|MPZL2_ENST00000438295.2_Missense_Mutation_p.Y79H	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	79	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y79H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCTATGTGGTAGTAGAATACC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											50.0	48.0	48.0					11																	118133354		2200	4296	6496	SO:0001583	missense	10205			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.235T>C	11.37:g.118133354A>G	ENSP00000278937:p.Tyr79His		A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	A	31	5.061477	0.93846	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.94758	-3.51;-3.51	5.98	5.98	0.97165	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.216017	0.49916	D	0.000127	D	0.97188	0.9081	M	0.81497	2.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.97376	0.9979	10	0.54805	T	0.06	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	79	O60487	MPZL2_HUMAN	H	79	ENSP00000278937:Y79H;ENSP00000408362:Y79H	ENSP00000278937:Y79H	Y	-	1	0	MPZL2	117638564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.288000	0.76882	0.528000	0.53228	TAC		0.532	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1		NM_005797	
MUC4	4585	broad.mit.edu	37	3	195506597	195506597	+	Missense_Mutation	SNP	G	G	A	rs200685331	byFrequency	TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:195506597G>A	ENST00000463781.3	-	2	12313	c.11854C>T	c.(11854-11856)Cct>Tct	p.P3952S	MUC4_ENST00000475231.1_Missense_Mutation_p.P3952S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3952S(8)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGGGTGGTGTCA	0.602													.|||	94	0.01877	0.0068	0.0476	5008	,	,		9784	0.002		0.0467	False		,,,				2504	0.0031																8	Substitution - Missense(8)	kidney(4)|skin(2)|stomach(1)|endometrium(1)											14.0	11.0	12.0					3																	195506597		651	1454	2105	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11854C>T	3.37:g.195506597G>A	ENSP00000417498:p.Pro3952Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.614	-0.078859	0.07141	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.57;1.51	.	.	.	.	.	.	.	.	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B	0.22080	0.064	B	0.23419	0.046	T	0.25012	-1.0144	7	.	.	.	.	4.6062	0.12378	0.3343:0.0:0.6657:0.0	.	3824	E7ESK3	.	S	3952	ENSP00000417498:P3952S;ENSP00000420243:P3952S	.	P	-	1	0	MUC4	196991376	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-1.291000	0.02775	-2.068000	0.00884	-2.092000	0.00371	CCT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195506603	195506603	+	Missense_Mutation	SNP	T	T	C	rs201602653		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:195506603T>C	ENST00000463781.3	-	2	12307	c.11848A>G	c.(11848-11850)Acc>Gcc	p.T3950A	MUC4_ENST00000475231.1_Missense_Mutation_p.T3950A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3950A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGTGTCACCTGTG	0.592																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											14.0	12.0	13.0					3																	195506603		630	1408	2038	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11848A>G	3.37:g.195506603T>C	ENSP00000417498:p.Thr3950Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	1.026	-0.683487	0.03353	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.8	.	.	.	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	0.999999	P	0.44006	0.824	B	0.37047	0.24	T	0.11817	-1.0572	7	.	.	.	.	2.8304	0.05498	3.0E-4:2.0E-4:0.4983:0.5012	.	3822	E7ESK3	.	A	3950	ENSP00000417498:T3950A;ENSP00000420243:T3950A	.	T	-	1	0	MUC4	196991382	0.070000	0.21116	0.015000	0.15790	0.013000	0.08279	1.182000	0.32029	0.056000	0.16144	0.055000	0.15244	ACC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195513806	195513806	+	Missense_Mutation	SNP	C	C	G	rs199976859	byFrequency	TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:195513806C>G	ENST00000463781.3	-	2	5104	c.4645G>C	c.(4645-4647)Gac>Cac	p.D1549H	MUC4_ENST00000475231.1_Missense_Mutation_p.D1549H|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.M1535_T1550delMPLPVTSPSSASTGDT(4)|p.D1549H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTCACCTGTGGAT	0.582																																																	5	Deletion - In frame(4)|Substitution - Missense(1)	stomach(4)|kidney(1)											6.0	5.0	5.0					3																	195513806		644	1466	2110	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4645G>C	3.37:g.195513806C>G	ENSP00000417498:p.Asp1549His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.687	0.127710	0.08981	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33654	1.41;1.4	0.844	0.844	0.18943	.	.	.	.	.	T	0.23649	0.0572	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.47162	0.54	T	0.09100	-1.0690	8	.	.	.	.	3.7845	0.08694	0.0:0.6622:0.0:0.3378	.	1549	E7ESK3	.	H	1549	ENSP00000417498:D1549H;ENSP00000420243:D1549H	.	D	-	1	0	MUC4	196998201	0.000000	0.05858	0.071000	0.20095	0.071000	0.16799	-2.804000	0.00759	0.088000	0.17205	0.089000	0.15464	GAC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYH16	84176	broad.mit.edu	37	7	98881188	98881188	+	IGR	DEL	A	A	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr7:98881188delA								MYH16 (25409 upstream) : ARPC1A (42332 downstream)																							GTCCTTCCAGAAAACCCTGGA	0.547																																																	0																																										SO:0001628	intergenic_variant	84176																															7.37:g.98881188delA				Frame_Shift_Del	DEL		37																																																																																				0	0.547									
MYO10	4651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	16699579	16699579	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:16699579T>C	ENST00000513610.1	-	26	3990	c.3536A>G	c.(3535-3537)cAc>cGc	p.H1179R	MYO10_ENST00000427430.2_Missense_Mutation_p.H536R|MYO10_ENST00000505695.1_Missense_Mutation_p.H518R|MYO10_ENST00000515803.1_Missense_Mutation_p.H518R|MYO10_ENST00000274203.9_Missense_Mutation_p.H536R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1179					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.H1179R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGAAAGCTGTGGAAATACGG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											54.0	55.0	55.0					5																	16699579		1999	4171	6170	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3536A>G	5.37:g.16699579T>C	ENSP00000421280:p.His1179Arg		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147464	0.77888	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88277	-2.24;-2.36;-2.28;-2.36;-2.28	5.25	5.25	0.73442	Pleckstrin homology-type (1);	.	.	.	.	D	0.92734	0.7690	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.999	P;D;D	0.80764	0.553;0.983;0.994	D	0.93466	0.6815	9	0.72032	D	0.01	.	15.1922	0.73053	0.0:0.0:0.0:1.0	.	58;820;1179	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	R	1179;518;536;518;536	ENSP00000421280:H1179R;ENSP00000425051:H518R;ENSP00000274203:H536R;ENSP00000421170:H518R;ENSP00000391106:H536R	ENSP00000274203:H536R	H	-	2	0	MYO10	16752579	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	8.040000	0.89188	1.995000	0.58328	0.455000	0.32223	CAC		0.507	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334	
MYO15A	51168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18044110	18044110	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:18044110C>T	ENST00000205890.5	+	21	5708	c.5370C>T	c.(5368-5370)ccC>ccT	p.P1790P	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1790	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P1790P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTGCAACCCCTTGTTCATGC	0.567											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											102.0	107.0	106.0					17																	18044110		2056	4202	6258	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5370C>T	17.37:g.18044110C>T		722	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239	
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192250811	192250811	+	Splice_Site	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr2:192250811G>T	ENST00000392318.3	+	16	1801		c.e16+1		MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGCTGGAAAGGTATGGGGGAG	0.547																																																	0													99.0	94.0	95.0					2																	192250811		2203	4300	6503	SO:0001630	splice_region_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1554+1G>T	2.37:g.192250811G>T			O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705198	0.68615	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.391	0.94583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191959056	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.399000	0.97285	2.659000	0.90383	0.579000	0.79373	.		0.547	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223	Intron
MROH6	642475	broad.mit.edu;hgsc.bcm.edu	37	8	144657686	144657686	+	5'Flank	SNP	C	C	A	rs148462517	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr8:144657686C>A	ENST00000398882.3	-	0	0				NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Missense_Mutation_p.V400L|NAPRT1_ENST00000449291.2_Missense_Mutation_p.V400L|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V400L|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V400L|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		TGGCCCCCCACGGCCACCAGC	0.672																																																	0													30.0	35.0	34.0					8																	144657686		2199	4298	6497	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657686C>A	Exception_encountered		A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917523	0.52546	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.45668	0.95;0.93;0.89;0.95;0.91	4.73	4.73	0.59995	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.128270	0.52532	D	0.000076	T	0.55481	0.1923	L	0.41824	1.3	0.39906	D	0.973962	D;B;D;D	0.89917	1.0;0.299;1.0;1.0	D;B;D;D	0.87578	0.998;0.22;0.997;0.998	T	0.55579	-0.8119	10	0.37606	T	0.19	-17.4241	16.3564	0.83236	0.0:1.0:0.0:0.0	.	400;400;400;400	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	L	400	ENSP00000405670:V400L;ENSP00000401508:V400L;ENSP00000341136:V400L;ENSP00000390949:V400L;ENSP00000276844:V400L	ENSP00000276844:V400L	V	-	1	0	NAPRT1	144728829	1.000000	0.71417	0.966000	0.40874	0.596000	0.36781	6.303000	0.72794	2.185000	0.69588	0.650000	0.86243	GTG		0.672	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3		NM_001100878	
Unknown	0	hgsc.bcm.edu	37	1	144615250	144615251	+	IGR	INS	-	-	AA	rs202042060|rs10625215	byFrequency	TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:144615250_144615251insAA								RP11-640M9.2 (9359 upstream) : NBPF9 (196492 downstream)																							ACCTCAAAGAGATGTTTTCTAA	0.46														497	0.0992412	0.0076	0.1009	5008	,	,		14193	0.2589		0.0606	False		,,,				2504	0.0971																0																																										SO:0001628	intergenic_variant	400818																															1.37:g.144615250_144615251insAA				Frame_Shift_Ins	INS		37																																																																																				0	0.460									
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152348619	152348619	+	Silent	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr2:152348619A>C	ENST00000172853.10	-	145	19629	c.19482T>G	c.(19480-19482)acT>acG	p.T6494T	NEB_ENST00000427231.2_Silent_p.T8350T|RIF1_ENST00000457745.1_Intron|NEB_ENST00000604864.1_Silent_p.T8350T|NEB_ENST00000397345.3_Silent_p.T8350T|NEB_ENST00000397336.2_Silent_p.T325T|NEB_ENST00000509223.2_Silent_p.T263T|NEB_ENST00000603639.1_Silent_p.T8350T|NEB_ENST00000409198.1_Silent_p.T6494T|NEB_ENST00000498015.2_5'UTR			P20929	NEBU_HUMAN	nebulin	6494	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T6494T(1)|p.T8350T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACCTGTAATAGTCTCCTGAT	0.413																																																	2	Substitution - coding silent(2)	kidney(2)											214.0	210.0	211.0					2																	152348619		1947	4128	6075	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19482T>G	2.37:g.152348619A>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	A	7.745	0.702194	0.15172	.	.	ENSG00000183091	ENST00000397337;ENST00000434685	.	.	.	4.97	0.52	0.17040	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37842	-0.9688	4	.	.	.	.	5.1688	0.15099	0.5102:0.1515:0.3383:0.0	.	.	.	.	R	484;591	.	.	L	-	2	0	NEB	152056865	0.001000	0.12720	0.786000	0.31890	0.797000	0.45037	-0.112000	0.10791	0.219000	0.20840	0.460000	0.39030	CTA		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NEFH	4744	hgsc.bcm.edu	37	22	29885582	29885583	+	In_Frame_Ins	INS	-	-	GCCAAGTCCCCTGAGAAG	rs200984527|rs267607533		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:29885582_29885583insGCCAAGTCCCCTGAGAAG	ENST00000310624.6	+	4	1986_1987	c.1953_1954insGCCAAGTCCCCTGAGAAG	c.(1954-1956)gcc>GCCAAGTCCCCTGAGAAGgcc	p.652_652A>AKSPEKA		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCTGAGAAGGCCAAGTCCCC	0.559																																																	0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885582_29885583insGCCAAGTCCCCTGAGAAG	ENSP00000311997:p.LysSerProGluLysAla652dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.559	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
NPLOC4	55666	broad.mit.edu;ucsc.edu	37	17	79589205	79589205	+	Missense_Mutation	SNP	A	A	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:79589205A>T	ENST00000331134.6	-	3	411	c.196T>A	c.(196-198)Ttg>Atg	p.L66M	NPLOC4_ENST00000539314.1_De_novo_Start_OutOfFrame|NPLOC4_ENST00000374747.5_Missense_Mutation_p.L66M	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	66					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L66M(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATTTTTAGCAAGTTGAGGGAT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											105.0	101.0	102.0					17																	79589205		1878	4121	5999	SO:0001583	missense	55666			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.196T>A	17.37:g.79589205A>T	ENSP00000331487:p.Leu66Met		Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943795	0.53079	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.21	3.12	0.35913	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.145674	0.47093	D	0.000254	T	0.34337	0.0894	N	0.22421	0.69	0.80722	D	1	P;P	0.48764	0.834;0.915	P;P	0.47528	0.537;0.549	T	0.10245	-1.0638	9	0.46703	T	0.11	-9.3966	4.069	0.09874	0.5162:0.2293:0.2545:0.0	.	66;66	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	M	66;65	.	ENSP00000331487:L66M	L	-	1	2	NPLOC4	77199610	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	0.859000	0.27858	0.523000	0.28482	0.482000	0.46254	TTG		0.468	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			
OLFM4	10562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53624673	53624673	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr13:53624673T>C	ENST00000219022.2	+	5	1378	c.1300T>C	c.(1300-1302)Ttc>Ctc	p.F434L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	434	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.F434L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCTAACGCCTTCATGGTATG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											149.0	131.0	137.0					13																	53624673		2203	4300	6503	SO:0001583	missense	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1300T>C	13.37:g.53624673T>C	ENSP00000219022:p.Phe434Leu		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	T	34	5.358662	0.95854	.	.	ENSG00000102837	ENST00000219022	D	0.96992	-4.2	5.92	5.92	0.95590	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.98676	0.9556	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99716	1.1008	10	0.87932	D	0	.	16.3604	0.83263	0.0:0.0:0.0:1.0	.	434	Q6UX06	OLFM4_HUMAN	L	434	ENSP00000219022:F434L	ENSP00000219022:F434L	F	+	1	0	OLFM4	52522674	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.040000	0.89188	2.260000	0.74910	0.528000	0.53228	TTC		0.423	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418	
OR4P4	81300	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55406262	55406262	+	Silent	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr11:55406262C>A	ENST00000314612.2	+	1	429	c.429C>A	c.(427-429)atC>atA	p.I143I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I143I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACACAATCATCATAGTTTGTT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	67.0	70.0					11																	55406262		2179	4006	6185	SO:0001819	synonymous_variant	81300			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.429C>A	11.37:g.55406262C>A				Silent	SNP	ENST00000314612.2	37	CCDS31504.1																																																																																				0.428	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1		NM_001004124	
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123887007	123887007	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr11:123887007C>T	ENST00000320891.4	+	1	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCTGTGCCTCCCACTGTATTG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											163.0	131.0	142.0					11																	123887007		2201	4299	6500	SO:0001819	synonymous_variant	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.726C>T	11.37:g.123887007C>T			Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.522	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1		NM_001004462	
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	G	T	rs568374645	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr6:32156280G>T	ENST00000375050.4	-	3	567	c.297C>A	c.(295-297)ggC>ggA	p.G99G	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	99					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612													G|||	24	0.00479233	0.0045	0.0029	5008	,	,		16536	0.002		0.006	False		,,,				2504	0.0082																1	Substitution - coding silent(1)	prostate(1)											20.0	22.0	21.0					6																	32156280		2203	4298	6501	SO:0001630	splice_region_variant	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.296-1C>A	6.37:g.32156280G>T			A2BFJ2	Silent	SNP	ENST00000375050.4	37	CCDS4748.1																																																																																				0.612	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			Silent
PCDH7	5099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	30725280	30725280	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr4:30725280A>T	ENST00000361762.2	+	1	3244	c.2236A>T	c.(2236-2238)Aaa>Taa	p.K746*	PCDH7_ENST00000543491.1_Nonsense_Mutation_p.K746*	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	746	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K699*(1)|p.K746*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TACCCTTCCCAAAAACATTTC	0.478																																																	2	Substitution - Nonsense(2)	kidney(2)											90.0	84.0	86.0					4																	30725280		2203	4300	6503	SO:0001587	stop_gained	5099			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2236A>T	4.37:g.30725280A>T	ENSP00000355243:p.Lys746*		O60246|O60247|Q4W5C4	Nonsense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.923329|5.923329	0.97110|0.97110	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54515	.|0.1863	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64914	.|-0.6295	.|3	0.33141|.	T|.	0.24|.	.|.	10.1965|10.1965	0.43058|0.43058	0.9225:0.0:0.0775:0.0|0.9225:0.0:0.0775:0.0	.|.	.|.	.|.	.|.	X|L	746;746;699|435	.|.	ENSP00000330302:K699X|.	K|Q	+|+	1|2	0|0	PCDH7|PCDH7	30334378|30334378	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	3.525000|3.525000	0.53502|0.53502	2.111000|2.111000	0.64477|0.64477	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.478	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1		NM_032457, NM_002589	
PCDHA8	56140	broad.mit.edu;hgsc.bcm.edu	37	5	140222015	140222015	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:140222015C>T	ENST00000531613.1	+	1	1109	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A370V|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	370	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A370V(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGTCATCGCCCTAATTAGC	0.488																																																	2	Substitution - Missense(2)	kidney(2)											119.0	111.0	114.0					5																	140222015		2203	4298	6501	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1109C>T	5.37:g.140222015C>T	ENSP00000434655:p.Ala370Val		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631886	0.87660	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01838	4.61;4.61	3.57	3.57	0.40892	Cadherin (3);Cadherin-like (1);	0.000000	0.36482	U	0.002579	T	0.10380	0.0254	M	0.63169	1.94	0.27277	N	0.958197	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.984	T	0.00832	-1.1548	10	0.87932	D	0	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	370;370	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	370	ENSP00000434655:A370V;ENSP00000367363:A370V	ENSP00000367363:A370V	A	+	2	0	PCDHA8	140202199	0.998000	0.40836	0.530000	0.27963	0.645000	0.38454	3.858000	0.55979	1.709000	0.51313	0.306000	0.20318	GCC		0.488	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911	
PCDHB16	57717	broad.mit.edu	37	5	140564230	140564230	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:140564230C>G	ENST00000361016.2	+	1	3251	c.2096C>G	c.(2095-2097)tCg>tGg	p.S699W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	699					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S699W(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCGTCGCTCTTCCTC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											71.0	77.0	75.0					5																	140564230		2201	4295	6496	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2096C>G	5.37:g.140564230C>G	ENSP00000354293:p.Ser699Trp		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	c	17.36	3.369754	0.61624	.	.	ENSG00000196963	ENST00000361016	T	0.14022	2.54	3.91	2.04	0.26737	.	0.000000	0.31071	N	0.008303	T	0.42426	0.1202	H	0.96080	3.765	0.09310	N	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.25641	-1.0126	10	0.66056	D	0.02	.	4.9413	0.13967	0.0:0.555:0.0:0.445	.	699	Q9NRJ7	PCDBG_HUMAN	W	699	ENSP00000354293:S699W	ENSP00000354293:S699W	S	+	2	0	PCDHB16	140544414	0.000000	0.05858	0.817000	0.32601	0.342000	0.28953	0.074000	0.14662	1.727000	0.51537	0.479000	0.44913	TCG		0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957	
PCDHGA7	56108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140762931	140762931	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:140762931C>T	ENST00000518325.1	+	1	465	c.465C>T	c.(463-465)agC>agT	p.S155S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	155	Cadherin 2. {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.S155S(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGTTAAGCGAGGCTGGGG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	47.0	45.0					5																	140762931		1986	4165	6151	SO:0001819	synonymous_variant	56108			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.465C>T	5.37:g.140762931C>T			B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																				0.463	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920	
PGLYRP3	114771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153277480	153277480	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:153277480G>C	ENST00000290722.1	-	3	371	c.319C>G	c.(319-321)Cac>Gac	p.H107D		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	107					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)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|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.H107D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGGGTGTGCAAGCCTTGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											184.0	148.0	161.0					1																	153277480		2203	4300	6503	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.319C>G	1.37:g.153277480G>C	ENSP00000290722:p.His107Asp		A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549798	0.65311	.	.	ENSG00000159527	ENST00000290722	T	0.26518	1.73	4.29	4.29	0.51040	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.50627	D	0.000115	T	0.54886	0.1886	H	0.97265	3.97	0.30640	N	0.756588	D	0.71674	0.998	D	0.72982	0.979	T	0.65191	-0.6228	10	0.87932	D	0	-16.5904	12.1073	0.53820	0.0:0.0:1.0:0.0	.	107	Q96LB9	PGRP3_HUMAN	D	107	ENSP00000290722:H107D	ENSP00000290722:H107D	H	-	1	0	PGLYRP3	151544104	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.824000	0.55723	2.203000	0.70933	0.557000	0.71058	CAC		0.498	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1		NM_052891	
PIBF1	10464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73482729	73482729	+	Nonsense_Mutation	SNP	C	C	T	rs374043584		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr13:73482729C>T	ENST00000326291.6	+	12	1887	c.1549C>T	c.(1549-1551)Caa>Taa	p.Q517*		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	517						centrosome (GO:0005813)		p.Q517*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TACTGAACTTCAAGCACAGAA	0.348																																																	1	Substitution - Nonsense(1)	kidney(1)											78.0	76.0	77.0					13																	73482729		2203	4300	6503	SO:0001587	stop_gained	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1549C>T	13.37:g.73482729C>T	ENSP00000317144:p.Gln517*		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Nonsense_Mutation	SNP	ENST00000326291.6	37	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	C	41	8.699176	0.98920	.	.	ENSG00000083535	ENST00000326291	.	.	.	5.73	3.94	0.45596	.	0.232340	0.45606	D	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.0394	12.4608	0.55731	0.1297:0.7383:0.132:0.0	.	.	.	.	X	517	.	ENSP00000317144:Q517X	Q	+	1	0	PIBF1	72380730	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	3.743000	0.55104	0.702000	0.31825	0.650000	0.86243	CAA		0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1		NM_006346	
PKDREJ	10343	broad.mit.edu	37	22	46654831	46654831	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:46654831A>G	ENST00000253255.5	-	1	4388	c.4389T>C	c.(4387-4389)tcT>tcC	p.S1463S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1463					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S1463S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTTTTGAGGAGATACCTCCT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	100.0	103.0					22																	46654831		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4389T>C	22.37:g.46654831A>G			B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.428	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071	
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51612957	51612957	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr6:51612957A>G	ENST00000371117.3	-	58	9732	c.9457T>C	c.(9457-9459)Ttt>Ctt	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.F3153L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCATAGTCAAAGTTCTTGAAA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											172.0	184.0	180.0					6																	51612957		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9457T>C	6.37:g.51612957A>G	ENSP00000360158:p.Phe3153Leu		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152166	0.78001	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79454	-1.27;-1.27	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.152670	0.47093	D	0.000256	T	0.69646	0.3134	M	0.63428	1.95	0.35454	D	0.795936	P;P;P	0.44281	0.711;0.663;0.831	B;B;B	0.44085	0.356;0.403;0.44	T	0.71830	-0.4474	10	0.29301	T	0.29	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	3153;3153;3153	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3153	ENSP00000360158:F3153L;ENSP00000341097:F3153L	ENSP00000341097:F3153L	F	-	1	0	PKHD1	51720916	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.087000	0.71362	2.240000	0.73641	0.533000	0.62120	TTT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
PKN3	29941	hgsc.bcm.edu;ucsc.edu	37	9	131477498	131477498	+	Frame_Shift_Del	DEL	G	G	-	rs146680071		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr9:131477498delG	ENST00000291906.4	+	14	2093	c.1700delG	c.(1699-1701)cggfs	p.R567fs	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	567	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTGCTGGGCCGGGGACACTTT	0.612																																																	0													55.0	59.0	58.0					9																	131477498		2203	4300	6503	SO:0001589	frameshift_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1700delG	9.37:g.131477498delG	ENSP00000291906:p.Arg567fs		Q9UM03	Frame_Shift_Del	DEL	ENST00000291906.4	37	CCDS6908.1																																																																																				0.612	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1		NM_013355	
PRR12	57479	broad.mit.edu	37	19	50100809	50100810	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:50100809_50100810delCT	ENST00000418929.2	+	4	3229_3230	c.3217_3218delCT	c.(3217-3219)ctcfs	p.L1073fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAAGAAGCTGCTCAAGACATCC	0.673																																																	0																																										SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3217_3218delCT	19.37:g.50100809_50100810delCT	ENSP00000394510:p.Leu1073fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.673	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719	
PSMA4	5685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78834926	78834926	+	Missense_Mutation	SNP	C	C	A	rs149336836		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr15:78834926C>A	ENST00000044462.7	+	4	298	c.148C>A	c.(148-150)Cgc>Agc	p.R50S	PSMA4_ENST00000558094.1_5'Flank|PSMA4_ENST00000558341.1_Missense_Mutation_p.R50S|PSMA4_ENST00000559082.1_Missense_Mutation_p.R50S|PSMA4_ENST00000558281.1_Missense_Mutation_p.R50S|PSMA4_ENST00000413382.2_Intron|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000560217.1_Missense_Mutation_p.R19S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.R50S(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCAGAGAGACGCAACATCCA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											162.0	165.0	164.0					15																	78834926		2196	4293	6489	SO:0001583	missense	5685			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.148C>A	15.37:g.78834926C>A	ENSP00000044462:p.Arg50Ser		D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366569	0.82463	.	.	ENSG00000041357	ENST00000044462	T	0.28069	1.63	5.65	4.72	0.59763	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.83312	2.635	0.80722	D	1	P	0.50528	0.936	P	0.52481	0.7	T	0.59568	-0.7430	10	0.87932	D	0	-18.9353	14.286	0.66247	0.1489:0.8511:0.0:0.0	.	50	P25789	PSA4_HUMAN	S	50	ENSP00000044462:R50S	ENSP00000044462:R50S	R	+	1	0	PSMA4	76621981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.426000	0.59882	1.364000	0.46038	0.655000	0.94253	CGC		0.358	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5		NM_002789	
PTPRG	5793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62268432	62268432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:62268432delC	ENST00000474889.1	+	28	4320	c.3943delC	c.(3943-3945)cagfs	p.Q1315fs	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Frame_Shift_Del_p.Q1286fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1315	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCGGCACTTTCAGTGTCCCAA	0.423																																																	0													213.0	199.0	204.0					3																	62268432		2203	4300	6503	SO:0001589	frameshift_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3943delC	3.37:g.62268432delC	ENSP00000418112:p.Gln1315fs		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Frame_Shift_Del	DEL	ENST00000474889.1	37	CCDS2895.1																																																																																				0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841	
RAD50	10111	broad.mit.edu;hgsc.bcm.edu	37	5	131977874	131977874	+	Missense_Mutation	SNP	A	A	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr5:131977874A>C	ENST00000265335.6	+	25	4144	c.3757A>C	c.(3757-3759)Ata>Cta	p.I1253L	AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.I1114L|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000457489.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1253					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.I1114L(1)|p.I1253L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCAGGATAATAAAAAGTCG	0.373								Homologous recombination																																									2	Substitution - Missense(2)	kidney(2)											81.0	81.0	81.0					5																	131977874		2203	4300	6503	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3757A>C	5.37:g.131977874A>C	ENSP00000265335:p.Ile1253Leu		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843795	0.91197	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.03413	3.94;3.94	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.14700	0.0355	M	0.90814	3.15	0.80722	D	1	P	0.36990	0.577	B	0.44133	0.442	T	0.00423	-1.1748	10	0.49607	T	0.09	-22.3531	15.8429	0.78864	1.0:0.0:0.0:0.0	.	1253	Q92878	RAD50_HUMAN	L	1114;1253	ENSP00000368100:I1114L;ENSP00000265335:I1253L	ENSP00000265335:I1253L	I	+	1	0	RAD50	132005773	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.850000	0.92190	2.145000	0.66743	0.533000	0.62120	ATA		0.373	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732	
RBBP6	5930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	24583192	24583192	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:24583192A>G	ENST00000319715.4	+	18	5237	c.4805A>G	c.(4804-4806)cAa>cGa	p.Q1602R	RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1568R|RBBP6_ENST00000381039.3_Missense_Mutation_p.Q762R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1602					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1602R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAAAAAGAGCAAATTACTGGG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											80.0	83.0	82.0					16																	24583192		2197	4300	6497	SO:0001583	missense	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4805A>G	16.37:g.24583192A>G	ENSP00000317872:p.Gln1602Arg		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	0.441	-0.898454	0.02472	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17370	2.28;2.54;2.54	5.94	-0.835	0.10775	.	0.713104	0.13447	N	0.387231	T	0.07458	0.0188	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20988	0.05;0.039;0.012	B;B;B	0.18871	0.023;0.023;0.01	T	0.39354	-0.9618	10	0.18710	T	0.47	-3.047	5.1575	0.15042	0.3811:0.439:0.0644:0.1155	.	762;1568;1602	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	R	762;1602;1568	ENSP00000370427:Q762R;ENSP00000317872:Q1602R;ENSP00000316291:Q1568R	ENSP00000317872:Q1602R	Q	+	2	0	RBBP6	24490693	0.001000	0.12720	0.133000	0.22050	0.259000	0.26198	0.066000	0.14489	-0.110000	0.12022	0.460000	0.39030	CAA		0.388	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910	
RDH5	5959	hgsc.bcm.edu;ucsc.edu	37	12	56118202	56118203	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr12:56118202_56118203insG	ENST00000257895.5	+	5	982_983	c.830_831insG	c.(829-834)ccccgafs	p.R278fs	RDH5_ENST00000548082.1_Frame_Shift_Ins_p.R278fs|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000547072.1_Frame_Shift_Ins_p.R181fs	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	278					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	GCTCGACACCCCCGAACCCGCT	0.614											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	5959			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	Exception_encountered	12.37:g.56118202_56118203insG	ENSP00000257895:p.Arg278fs	1013	O00179|Q8TAI2	Frame_Shift_Ins	INS	ENST00000257895.5	37	CCDS31829.1																																																																																				0.614	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1		NM_002905	
RNF212	285498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	1075211	1075211	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr4:1075211C>G	ENST00000433731.2	-	7	521	c.460G>C	c.(460-462)Gac>Cac	p.D154H	RNF212_ENST00000382968.5_Missense_Mutation_p.D154H			Q495C1	RN212_HUMAN	ring finger protein 212	154					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D154H(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		ACACACCTGTCGGGGGCTGAT	0.577																																																	2	Substitution - Missense(2)	kidney(2)											151.0	151.0	151.0					4																	1075211		2203	4300	6503	SO:0001583	missense	285498			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.460G>C	4.37:g.1075211C>G	ENSP00000389709:p.Asp154His		C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Missense_Mutation	SNP	ENST00000433731.2	37	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892509	0.33442	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	T	0.51574	0.7	4.07	-1.1	0.09872	.	.	.	.	.	T	0.30854	0.0778	N	0.14661	0.345	0.09310	N	1	P;P	0.48407	0.91;0.91	P;B	0.50378	0.639;0.443	T	0.20107	-1.0285	9	0.15066	T	0.55	.	4.1035	0.10025	0.0:0.4007:0.176:0.4233	.	154;154	Q495C1;Q495C1-5	RN212_HUMAN;.	H	154	ENSP00000389709:D154H	ENSP00000372428:D154H	D	-	1	0	RNF212	1065211	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.302000	0.08221	-0.085000	0.12573	-0.794000	0.03295	GAC		0.577	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2		NM_194439	
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	lincRNA	SNP	A	A	G	rs6583272	byFrequency	TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824									long intergenic non-protein coding RNA 969																		CCTCAGGTGCAGATTGATGAG	0.473																																																	0																																												727956			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410627A>G				Missense_Mutation	SNP	ENST00000445430.1	37																																																																																					0.473	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			
SELP	6403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169566355	169566355	+	Missense_Mutation	SNP	G	G	T	rs370194750		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:169566355G>T	ENST00000263686.6	-	11	1802	c.1765C>A	c.(1765-1767)Cgt>Agt	p.R589S	SELP_ENST00000367793.2_Missense_Mutation_p.R527S|SELP_ENST00000367786.2_Missense_Mutation_p.R527S|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.R527S|SELP_ENST00000367788.2_Missense_Mutation_p.R527S|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	589	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R589S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AATTCTCCACGAGTGTCAGAA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											61.0	63.0	62.0					1																	169566355		2203	4300	6503	SO:0001583	missense	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1765C>A	1.37:g.169566355G>T	ENSP00000263686:p.Arg589Ser		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329242	0.05314	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.13	3.18	0.36537	Complement control module (2);Sushi/SCR/CCP (3);	0.947971	0.08739	N	0.900902	T	0.32585	0.0834	N	0.05383	-0.06	0.09310	N	0.999999	B;B;B	0.29212	0.237;0.207;0.083	B;B;B	0.31946	0.138;0.138;0.054	T	0.28964	-1.0027	10	0.22109	T	0.4	-0.0506	7.0458	0.25044	0.0951:0.1733:0.7315:0.0	.	589;589;589	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	S	589;588;589;589;527;527;527;527;512	ENSP00000263686:R589S;ENSP00000356767:R527S;ENSP00000356768:R527S;ENSP00000356762:R527S;ENSP00000356760:R527S	ENSP00000263686:R589S	R	-	1	0	SELP	167832979	0.003000	0.15002	0.001000	0.08648	0.070000	0.16714	1.311000	0.33562	1.126000	0.42016	0.650000	0.86243	CGT		0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4		NM_003005	
SEPT5	5413	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	19707850	19707850	+	Missense_Mutation	SNP	C	C	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:19707850C>G	ENST00000455784.2	+	6	495	c.370C>G	c.(370-372)Ccc>Gcc	p.P124A	SEPT5_ENST00000406395.1_Missense_Mutation_p.P124A|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Missense_Mutation_p.P133A|SEPT5_ENST00000383045.3_Missense_Mutation_p.P133A	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	124	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.P124A(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAGCTGGAAGCCCATCACCGA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											114.0	100.0	104.0					22																	19707850		2203	4300	6503	SO:0001583	missense	5413			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.370C>G	22.37:g.19707850C>G	ENSP00000391311:p.Pro124Ala		O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.184|8.184	0.794578|0.794578	0.16327|0.16327	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000413258|ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	.|T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.01|4.01	1.82|1.82	0.25136|0.25136	.|.	.|0.064498	.|0.64402	.|D	.|0.000006	T|T	0.50820|0.50820	0.1638|0.1638	L|L	0.55743|0.55743	1.74|1.74	0.51767|0.51767	D|D	0.99993|0.99993	.|B	.|0.25486	.|0.127	.|B	.|0.43478	.|0.421	T|T	0.49899|0.49899	-0.8890|-0.8890	5|10	.|0.46703	.|T	.|0.11	.|.	9.2374|9.2374	0.37475|0.37475	0.2919:0.5669:0.1412:0.0|0.2919:0.5669:0.1412:0.0	.|.	.|124	.|Q99719	.|SEPT5_HUMAN	G|A	20|124;124;95;77;162;133;133;77	.|ENSP00000391311:P124A;ENSP00000384535:P124A;ENSP00000408678:P77A;ENSP00000414488:P162A;ENSP00000372515:P133A;ENSP00000394541:P133A;ENSP00000378541:P77A	.|ENSP00000372515:P133A	A|P	+|+	2|1	0|0	SEPT5|SEPT5	18087850|18087850	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.018000|0.018000	0.09664|0.09664	3.539000|3.539000	0.53604|0.53604	0.431000|0.431000	0.26258|0.26258	-0.311000|-0.311000	0.09066|0.09066	GCC|CCC		0.597	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1		NM_002688	
SLC2A11	66035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24226915	24226915	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr22:24226915C>A	ENST00000345044.6	+	12	1638	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SLC2A11_ENST00000398356.2_Missense_Mutation_p.P464H|AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000316185.8_Missense_Mutation_p.P460H			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	457					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.P464H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGTTCCTTCCTGAGACCAAA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											160.0	145.0	150.0					22																	24226915		2203	4300	6503	SO:0001583	missense	66035			AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.1370C>A	22.37:g.24226915C>A	ENSP00000342542:p.Pro457His		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Missense_Mutation	SNP	ENST00000345044.6	37	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739226	0.69304	.	.	ENSG00000133460	ENST00000345044;ENST00000398356;ENST00000316185	T;T;T	0.80033	-1.33;-1.33;-1.33	3.25	3.25	0.37280	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	M	0.91196	3.185	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	0.93033	0.6450	10	0.87932	D	0	.	14.3177	0.66463	0.0:1.0:0.0:0.0	.	460;457;464	Q9BYW1-3;Q9BYW1;E9PH55	.;GTR11_HUMAN;.	H	457;464;460	ENSP00000342542:P457H;ENSP00000381399:P464H;ENSP00000326748:P460H	ENSP00000326748:P460H	P	+	2	0	SLC2A11	22556915	0.996000	0.38824	0.900000	0.35374	0.877000	0.50540	4.412000	0.59787	2.149000	0.67028	0.603000	0.83216	CCT		0.562	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3		NM_030807	
SLC4A1	6521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42328875	42328875	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:42328875G>A	ENST00000262418.6	-	18	2548	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	798	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.T798M(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGAGCGACGTGACCCCCAT	0.597																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											120.0	107.0	112.0					17																	42328875		2203	4300	6503	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2393C>T	17.37:g.42328875G>A	ENSP00000262418:p.Thr798Met		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506118	0.85282	.	.	ENSG00000004939	ENST00000262418	T	0.80824	-1.42	5.22	5.22	0.72569	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.67517	2.055	0.80722	D	1	P	0.52692	0.955	P	0.49451	0.611	D	0.85900	0.1434	10	0.56958	D	0.05	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	798	P02730	B3AT_HUMAN	M	798	ENSP00000262418:T798M	ENSP00000262418:T798M	T	-	2	0	SLC4A1	39684401	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	7.786000	0.85741	2.579000	0.87056	0.561000	0.74099	ACG		0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1		NM_000342	
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																																	0																																												386757			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G				Missense_Mutation	SNP	ENST00000330048.5	37																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			
SREBF1	6720	hgsc.bcm.edu	37	17	17716753	17716754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr17:17716753_17716754insC	ENST00000261646.5	-	18	3326_3327	c.3142_3143insG	c.(3142-3144)gccfs	p.A1048fs	MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Frame_Shift_Ins_p.A1078fs|SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.A794fs|SREBF1_ENST00000338854.5_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1048					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGTGGGGCTGGCCCCCGCCATC	0.693																																																	0																																										SO:0001589	frameshift_variant	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3143dupG	17.37:g.17716758_17716758dupC	ENSP00000261646:p.Ala1048fs		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Ins	INS	ENST00000261646.5	37	CCDS11189.1																																																																																				0.693	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176	
SRL	6345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4245571	4245571	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr16:4245571C>T	ENST00000399609.3	-	5	605	c.593G>A	c.(592-594)cGc>cAc	p.R198H	SRL_ENST00000537996.1_Missense_Mutation_p.R156H	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	657	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R198L(1)|p.R198H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCTGCTTGCGGTTCTCGAT	0.448																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											133.0	130.0	131.0					16																	4245571		1917	4130	6047	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.593G>A	16.37:g.4245571C>T	ENSP00000382518:p.Arg198His			Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058024	0.93846	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.95554	-3.74;-3.74	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.96024	0.8705	L	0.28274	0.84	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96761	0.9561	10	0.87932	D	0	-13.6132	19.0659	0.93110	0.0:1.0:0.0:0.0	.	198	Q86TD4-2	.	H	198;656;156	ENSP00000382518:R198H;ENSP00000440350:R156H	ENSP00000333285:R656H	R	-	2	0	SRL	4185572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.797000	0.96272	0.655000	0.94253	CGC		0.448	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1		XM_064152	
SSH2	85464	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27977810	27977810	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr17:27977810T>C	ENST00000269033.3	-	12	1158	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Y363C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	336	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y336C(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCAAGATATACCGTACCCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											135.0	125.0	128.0					17																	27977810		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1007A>G	17.37:g.27977810T>C	ENSP00000269033:p.Tyr336Cys		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395292	0.83011	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	D;D	0.86230	-2.09;-2.09	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	L	0.53780	1.695	0.80722	D	1	P;P;D	0.56746	0.938;0.926;0.977	P;P;D	0.65874	0.808;0.796;0.939	D	0.92286	0.5837	10	0.87932	D	0	-12.2384	16.2026	0.82095	0.0:0.0:0.0:1.0	.	363;336;336	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	C	336;363;336	ENSP00000269033:Y336C;ENSP00000444743:Y363C	ENSP00000269033:Y336C	Y	-	2	0	SSH2	25001936	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.997000	0.88414	2.285000	0.76669	0.533000	0.62120	TAT		0.413	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389	
SYDE2	84144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85630328	85630328	+	Missense_Mutation	SNP	T	T	C			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr1:85630328T>C	ENST00000341460.5	-	6	3015	c.2966A>G	c.(2965-2967)cAg>cGg	p.Q989R		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	989	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.Q989R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTGCCTCTGACTTAATAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											71.0	67.0	68.0					1																	85630328		1882	4110	5992	SO:0001583	missense	84144			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2966A>G	1.37:g.85630328T>C	ENSP00000340594:p.Gln989Arg		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097917	0.76870	.	.	ENSG00000097096	ENST00000341460	T	0.18657	2.2	5.5	5.5	0.81552	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	L	0.41906	1.305	0.80722	D	1	D	0.61697	0.99	D	0.69654	0.965	T	0.02491	-1.1151	10	0.54805	T	0.06	.	15.6148	0.76756	0.0:0.0:0.0:1.0	.	989	Q5VT97	SYDE2_HUMAN	R	989	ENSP00000340594:Q989R	ENSP00000340594:Q989R	Q	-	2	0	SYDE2	85402916	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.665000	0.83852	2.086000	0.62901	0.533000	0.62120	CAG		0.383	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			
TMEM189-UBE2V1	387522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	48760154	48760154	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr20:48760154C>T	ENST00000341698.2	-	2	125	c.126G>A	c.(124-126)aaG>aaA	p.K42K	TMEM189_ENST00000557021.1_Silent_p.K42K|TMEM189_ENST00000371652.4_Silent_p.K42K|TMEM189_ENST00000371650.5_Silent_p.K42K	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCTGGAGGCGCTTGCCTGCAG	0.577																																																	0													61.0	55.0	57.0					20																	48760154		2203	4300	6503	SO:0001819	synonymous_variant	387521			U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.126G>A	20.37:g.48760154C>T				Silent	SNP	ENST00000341698.2	37	CCDS13424.1																																																																																				0.577	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			
TMLHE	55217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	154754204	154754205	+	Missense_Mutation	DNP	GA	GA	AG			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chrX:154754204_154754205GA>AG	ENST00000334398.3	-	3	415_416	c.270_271TC>CT	c.(268-273)acTCac>acCTac	p.H91Y	TMLHE_ENST00000369439.4_Missense_Mutation_p.H91Y|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	91					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.T90T(1)|p.H91Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTGCGCTGGTGAGTCTTAGAGT	0.485																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	55217			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.270_271delinsAG	X.37:g.154754204_154754205delinsAG	ENSP00000335261:p.His91Tyr		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation|Silent	SNP	ENST00000334398.3	37	CCDS14768.1																																																																																				0.485	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1		NM_018196	
TSC22D1	8848	broad.mit.edu	37	13	45008837	45008837	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr13:45008837A>G	ENST00000458659.2	-	3	3637	c.3147T>C	c.(3145-3147)ccT>ccC	p.P1049P	TSC22D1_ENST00000261489.2_Silent_p.P120P|TSC22D1_ENST00000501704.2_Intron|RP11-71C5.2_ENST00000426579.2_RNA	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1049					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1049P(2)|p.P120P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGTGGTGGCAGGGGGGGAGC	0.642																																																	4	Substitution - coding silent(4)	prostate(2)|kidney(2)											21.0	25.0	24.0					13																	45008837		2194	4297	6491	SO:0001819	synonymous_variant	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3147T>C	13.37:g.45008837A>G			B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	CCDS31966.1																																																																																				0.642	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022	
TTC9B	148014	broad.mit.edu	37	19	40723224	40723224	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr19:40723224A>G	ENST00000311308.6	-	2	497	c.480T>C	c.(478-480)tgT>tgC	p.C160C		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	160					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.C160C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GTACCTTGAGACAGTACTCGC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	70.0	79.0					19																	40723224		2203	4300	6503	SO:0001819	synonymous_variant	148014			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.480T>C	19.37:g.40723224A>G			A8K0I5|Q96NP9	Silent	SNP	ENST00000311308.6	37	CCDS12550.1																																																																																				0.657	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1		NM_152479	
UACA	55075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	70961034	70961034	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr15:70961034T>G	ENST00000322954.6	-	16	2174	c.1989A>C	c.(1987-1989)gaA>gaC	p.E663D	UACA_ENST00000539319.1_Missense_Mutation_p.E554D|UACA_ENST00000560441.1_Missense_Mutation_p.E648D|UACA_ENST00000379983.2_Missense_Mutation_p.E650D	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	663					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E663D(1)|p.E650D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGTCTAATTTCACTAAGTG	0.338																																																	2	Substitution - Missense(2)	kidney(2)											96.0	96.0	96.0					15																	70961034		2199	4297	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1989A>C	15.37:g.70961034T>G	ENSP00000314556:p.Glu663Asp		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870986	0.51695	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.50813	0.73;0.75;1.2	5.61	1.87	0.25490	.	0.089624	0.48286	D	0.000194	T	0.56731	0.2005	L	0.55834	1.745	0.37993	D	0.933987	D;D;D;D	0.89917	0.997;0.998;1.0;0.999	D;D;D;D	0.83275	0.93;0.938;0.996;0.962	T	0.57136	-0.7863	10	0.66056	D	0.02	-23.0206	5.3342	0.15949	0.0:0.2716:0.1413:0.5872	.	554;663;663;650	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	D	663;650;554	ENSP00000314556:E663D;ENSP00000369319:E650D;ENSP00000438667:E554D	ENSP00000314556:E663D	E	-	3	2	UACA	68748088	0.753000	0.28349	0.058000	0.19502	0.992000	0.81027	1.080000	0.30779	0.059000	0.16252	0.402000	0.26972	GAA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			
Unknown	0	broad.mit.edu	37	18	44249448	44249448	+	IGR	DEL	C	C	-			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr18:44249448delC								LOXHD1 (12452 upstream) : ST8SIA5 (9632 downstream)																							GTGTCACTTTCCCCCAGAAAT	0.512																																																	0																																										SO:0001628	intergenic_variant	0																															18.37:g.44249448delC				RNA	DEL		37																																																																																				0	0.512									
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	11985089	11985089	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr10:11985089C>T	ENST00000356352.2	-	16	3726	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	UPF2_ENST00000357604.5_Missense_Mutation_p.E1085K|UPF2_ENST00000397053.2_Missense_Mutation_p.E1085K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1085	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E1085K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTTTCATTTTCCTTATTGGAA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											179.0	160.0	166.0					10																	11985089		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3253G>A	10.37:g.11985089C>T	ENSP00000348708:p.Glu1085Lys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740056	0.89573	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.06218	3.33;3.33;3.33	5.32	5.32	0.75619	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.46157	1.445	0.49213	D	0.999761	D	0.57257	0.979	D	0.71414	0.973	T	0.02654	-1.1128	10	0.21014	T	0.42	.	17.5944	0.88007	0.0:1.0:0.0:0.0	.	1085	Q9HAU5	RENT2_HUMAN	K	1085	ENSP00000348708:E1085K;ENSP00000350221:E1085K;ENSP00000380244:E1085K	ENSP00000348708:E1085K	E	-	1	0	UPF2	12025095	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.910000	0.75741	2.657000	0.90304	0.644000	0.83932	GAA		0.328	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	11998363	11998363	+	Missense_Mutation	SNP	G	G	A			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr10:11998363G>A	ENST00000356352.2	-	12	3003	c.2530C>T	c.(2530-2532)Cac>Tac	p.H844Y	UPF2_ENST00000357604.5_Missense_Mutation_p.H844Y|UPF2_ENST00000397053.2_Missense_Mutation_p.H844Y			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	844	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.			H -> Q (in Ref. 2; AAG48509 and 4; BAA92646). {ECO:0000305}.	gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.H844Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCCACAACGTGGATCCCAACA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											147.0	137.0	140.0					10																	11998363		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2530C>T	10.37:g.11998363G>A	ENSP00000348708:p.His844Tyr		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238530	0.22711	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.22336	1.96;1.96;1.96	5.53	5.53	0.82687	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.46157	1.445	0.80722	D	1	P	0.47545	0.897	P	0.54460	0.753	T	0.02081	-1.1217	10	0.02654	T	1	.	19.4313	0.94768	0.0:0.0:1.0:0.0	.	844	Q9HAU5	RENT2_HUMAN	Y	844	ENSP00000348708:H844Y;ENSP00000350221:H844Y;ENSP00000380244:H844Y	ENSP00000348708:H844Y	H	-	1	0	UPF2	12038369	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.209000	0.95087	2.596000	0.87737	0.484000	0.47621	CAC		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		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.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(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)		GTGCTGCGCTCGGTGAACTCG	0.721		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"""	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	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.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VIL1	7429	hgsc.bcm.edu;ucsc.edu	37	2	219299338	219299339	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B2-3924-01A-02D-1386-10	TCGA-B2-3924-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e6cf808-de43-4898-8e62-6ffef3f90eed	28aac82d-72ad-4956-a3c3-022718b48fdd	g.chr2:219299338_219299339insT	ENST00000248444.5	+	14	1678_1679	c.1590_1591insT	c.(1591-1593)tttfs	p.F531fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.F220fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	531	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACCAAGGCCTTTGAGGTCCC	0.569																																																	0																																										SO:0001589	frameshift_variant	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1593dupT	2.37:g.219299341_219299341dupT	ENSP00000248444:p.Phe531fs		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Ins	INS	ENST00000248444.5	37	CCDS2417.1																																																																																				0.569	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3		NM_007127	
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68274120	68274120	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr14:68274120C>T	ENST00000347230.4	-	5	1019	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G294E	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	294					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.G294E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACACCTTTTCCCGAGGCTGT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											40.0	40.0	40.0					14																	68274120		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.881G>A	14.37:g.68274120C>T	ENSP00000251119:p.Gly294Glu		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076516	0.36662	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27256	1.82;1.68	5.27	3.46	0.39613	.	0.243197	0.41823	N	0.000807	T	0.42471	0.1204	L	0.60455	1.87	0.33080	D	0.536496	D;B;D	0.89917	1.0;0.197;0.999	D;B;D	0.97110	1.0;0.09;0.946	T	0.53129	-0.8482	10	0.42905	T	0.14	-5.4142	9.06	0.36429	0.0:0.7679:0.0:0.2321	.	294;294;294	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	E	294;273;294	ENSP00000251119:G294E;ENSP00000450603:G294E	ENSP00000251119:G294E	G	-	2	0	ZFYVE26	67343873	0.994000	0.37717	0.972000	0.41901	0.381000	0.30169	0.791000	0.26915	0.796000	0.33947	0.655000	0.94253	GGA		0.572	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346	
ZNF382	84911	hgsc.bcm.edu;ucsc.edu	37	19	37118014	37118015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:37118014_37118015insA	ENST00000292928.2	+	5	1328_1329	c.1215_1216insA	c.(1216-1218)aaafs	p.K406fs	ZNF382_ENST00000435416.1_Frame_Shift_Ins_p.K405fs|ZNF382_ENST00000423582.1_Frame_Shift_Ins_p.K357fs|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Frame_Shift_Ins_p.K405fs	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	406	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACACAGGAGAGAAACCGTATCA	0.446																																																	0																																										SO:0001589	frameshift_variant	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1218dupA	19.37:g.37118017_37118017dupA	ENSP00000292928:p.Lys406fs		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Frame_Shift_Ins	INS	ENST00000292928.2	37	CCDS33004.1																																																																																				0.446	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2		NM_032825	
