#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification
CDCP2	200008	broad.mit.edu	37	1	54605749	54605749	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:54605749C>A	ENST00000371330.1	-	4	1641	c.794G>T	c.(793-795)cGg>cTg	p.R265L	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	265	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAAGTTGCCCCGCATGGCCAT	0.602																																						uc001cwv.1																			0				ovary(1)	1						c.(793-795)CGG>CTG		CUB domain containing protein 2 precursor							45.0	36.0	39.0					1																	54605749		2186	4272	6458	SO:0001583	missense	200008					extracellular region		g.chr1:54605749C>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.794G>T	1.37:g.54605749C>A	ENSP00000360381:p.Arg265Leu						p.R265L	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			4	1642	-			265			CUB 3.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.794G>T	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219244	0.39201	.	.	ENSG00000157211	ENST00000371330	T	0.17854	2.25	5.83	2.62	0.31277	CUB (5);	0.305075	0.30118	N	0.010379	T	0.13200	0.0320	L	0.28344	0.845	0.33579	D	0.599656	P	0.50272	0.933	P	0.49192	0.602	T	0.21484	-1.0244	10	0.22706	T	0.39	-19.5903	5.2659	0.15599	0.0:0.4581:0.0:0.5419	.	265	Q5VXM1	CDCP2_HUMAN	L	265	ENSP00000360381:R265L	ENSP00000360381:R265L	R	-	2	0	CDCP2	54378337	0.998000	0.40836	0.933000	0.37362	0.522000	0.34438	1.948000	0.40303	0.820000	0.34516	0.555000	0.69702	CGG		0.602	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546	
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:145324371T>C	ENST00000342960.5	+	28	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGCGCCT	0.498																																						uc001end.3																			0					0						c.(3790-3792)GTA>GCA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145324371T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3566T>C	1.37:g.145324371T>C	ENSP00000345684:p.Val1189Ala					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_RNA	p.V1264A	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3826	+	all_hematologic(923;0.032)		1189					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3791T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.402480	0.00195	.	.	ENSG00000163386	ENST00000342960	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.01189	0.0039	L	0.31476	0.935	0.09310	N	1	.	.	.	.	.	.	T	0.45804	-0.9236	5	0.07482	T	0.82	.	.	.	.	.	.	.	.	A	1189	ENSP00000345684:V1189A	ENSP00000345684:V1189A	V	+	2	0	NBPF10	144035728	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.639000	0.02011	0.493000	0.27837	0.000000	0.15137	GTA		0.498	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
GPR137B	7107	broad.mit.edu	37	1	236343286	236343286	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:236343286C>T	ENST00000366592.3	+	4	886	c.795C>T	c.(793-795)agC>agT	p.S265S	GPR137B_ENST00000366591.4_Silent_p.S174S	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	265						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGAACAAGAGCGTCCATTCCT	0.527																																						uc001hxq.2																			0					0						c.(793-795)AGC>AGT		G protein-coupled receptor 137B							211.0	176.0	188.0					1																	236343286		2203	4300	6503	SO:0001819	synonymous_variant	7107					integral to plasma membrane|membrane fraction		g.chr1:236343286C>T	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.795C>T	1.37:g.236343286C>T						GPR137B_uc001hxr.1_Silent_p.S47S|GPR137B_uc009xge.2_RNA	p.S265S	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	886	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	265			Extracellular (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Silent	SNP	ENST00000366592.3	37	c.795C>T	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	C	6.352	0.433047	0.12045	.	.	ENSG00000077585	ENST00000454895	.	.	.	5.41	-7.04	0.01578	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.57751	-0.7757	4	.	.	.	-8.5302	11.1147	0.48254	0.0953:0.2816:0.0:0.6231	.	.	.	.	V	129	.	.	A	+	2	0	GPR137B	234409909	0.000000	0.05858	0.002000	0.10522	0.798000	0.45092	-1.499000	0.02285	-1.855000	0.01162	-1.119000	0.02030	GCG		0.527	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
DTX4	23220	broad.mit.edu	37	11	58949764	58949764	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:58949764C>T	ENST00000227451.3	+	2	868	c.764C>T	c.(763-765)tCg>tTg	p.S255L	DTX4_ENST00000532982.1_Missense_Mutation_p.S149L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	255					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACCGCCCCATCGCAGGTGATC	0.657																																						uc001nns.2																			0				lung(2)|central_nervous_system(1)	3						c.(763-765)TCG>TTG		deltex 4 homolog							34.0	47.0	43.0					11																	58949764		2100	4226	6326	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949764C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.764C>T	11.37:g.58949764C>T	ENSP00000227451:p.Ser255Leu					DTX4_uc001nnr.2_Missense_Mutation_p.S149L	p.S255L	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			2	1021	+		all_epithelial(135;0.125)	255					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.764C>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	C	4.517	0.095850	0.08681	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12361	2.69;2.89	4.62	1.76	0.24704	.	1.930780	0.02268	N	0.068215	T	0.18087	0.0434	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.37606	T	0.19	.	7.316	0.26501	0.0:0.7182:0.0:0.2818	.	255	Q9Y2E6	DTX4_HUMAN	L	149;255	ENSP00000434055:S149L;ENSP00000227451:S255L	ENSP00000227451:S255L	S	+	2	0	DTX4	58706340	0.005000	0.15991	0.000000	0.03702	0.149000	0.21700	0.922000	0.28734	0.214000	0.20742	-0.140000	0.14226	TCG		0.657	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213	
MMP13	4322	broad.mit.edu	37	11	102826186	102826186	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:102826186C>T	ENST00000260302.3	-	2	185	c.157G>A	c.(157-159)Gcg>Acg	p.A53T	MMP13_ENST00000340273.4_Missense_Mutation_p.A53T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	53					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGGATTCCCGCGAGATTTGTA	0.458																																						uc001phl.2																			0				ovary(2)|skin(1)	3						c.(157-159)GCG>ACG		matrix metalloproteinase 13 preproprotein							158.0	153.0	155.0					11																	102826186		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826186C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.157G>A	11.37:g.102826186C>T	ENSP00000260302:p.Ala53Thr						p.A53T	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	185	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	53					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.157G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	6.664	0.490974	0.12702	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.35048	1.33;1.33	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.365110	0.04739	N	0.422578	T	0.37019	0.0988	L	0.40543	1.245	0.43118	D	0.994836	B	0.24483	0.104	B	0.24394	0.053	T	0.03887	-1.0995	10	0.19147	T	0.46	.	15.515	0.75815	0.0:0.9319:0.0:0.0681	.	53	P45452	MMP13_HUMAN	T	53	ENSP00000260302:A53T;ENSP00000339672:A53T	ENSP00000260302:A53T	A	-	1	0	MMP13	102331396	0.961000	0.32948	0.999000	0.59377	0.253000	0.25986	1.687000	0.37680	2.885000	0.99019	0.655000	0.94253	GCG		0.458	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
IL23A	51561	broad.mit.edu	37	12	56733735	56733735	+	Silent	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:56733735T>C	ENST00000228534.4	+	4	583	c.417T>C	c.(415-417)ggT>ggC	p.G139G	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	139					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AGCCTGAGGGTCACCACTGGG	0.572																																						uc001sla.2																			0					0						c.(415-417)GGT>GGC		interleukin 23, alpha subunit p19 precursor							102.0	109.0	107.0					12																	56733735		2203	4300	6503	SO:0001819	synonymous_variant	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733735T>C	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.417T>C	12.37:g.56733735T>C							p.G139G	NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN			4	583	+			139					Q6NZ80|Q6NZ82|Q9H2A5	Silent	SNP	ENST00000228534.4	37	c.417T>C	CCDS8916.1																																																																																				0.572	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584	
CUX2	23316	broad.mit.edu	37	12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:111785603G>A	ENST00000261726.6	+	22	4089	c.3935G>A	c.(3934-3936)gGc>gAc	p.G1312D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1312					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGAGGCAGGCAGCCAGCCC	0.612																																						uc001tsa.1																			0				ovary(3)|skin(2)|breast(1)	6						c.(3934-3936)GGC>GAC		cut-like 2							46.0	56.0	52.0					12																	111785603		2134	4230	6364	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785603G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3935G>A	12.37:g.111785603G>A	ENSP00000261726:p.Gly1312Asp						p.G1312D	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	4088	+			1312					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3935G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	0.127	-1.118697	0.01785	.	.	ENSG00000111249	ENST00000261726	T	0.42131	0.98	5.44	0.285	0.15705	.	0.654986	0.16067	N	0.231207	T	0.18130	0.0435	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23976	-1.0173	10	0.11794	T	0.64	-5.2437	5.1234	0.14871	0.4095:0.144:0.4465:0.0	.	1312	O14529	CUX2_HUMAN	D	1312	ENSP00000261726:G1312D	ENSP00000261726:G1312D	G	+	2	0	CUX2	110269986	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.568000	0.05909	-0.009000	0.14296	0.557000	0.71058	GGC		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
FAM124A	220108	broad.mit.edu	37	13	51825704	51825704	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr13:51825704C>T	ENST00000322475.8	+	3	336	c.201C>T	c.(199-201)aaC>aaT	p.N67N	FAM124A_ENST00000280057.6_Silent_p.N103N	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	67										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCGACAACGTCCTGGCGT	0.687																																						uc001vfg.1																			0				central_nervous_system(1)	1						c.(199-201)AAC>AAT		hypothetical protein LOC220108							27.0	24.0	25.0					13																	51825704		2203	4300	6503	SO:0001819	synonymous_variant	220108							g.chr13:51825704C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.201C>T	13.37:g.51825704C>T						FAM124A_uc001vfe.2_Silent_p.N67N|FAM124A_uc001vff.1_Silent_p.N103N	p.N67N	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	332	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	67					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.201C>T	CCDS55900.1																																																																																				0.687	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
MAX	4149	broad.mit.edu	37	14	65569050	65569050	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:65569050T>A	ENST00000358664.4	-	1	138	c.8A>T	c.(7-9)gAt>gTt	p.D3V	MAX_ENST00000556979.1_Missense_Mutation_p.D3V|MAX_ENST00000556443.1_Missense_Mutation_p.D3V|MAX_ENST00000557746.1_Missense_Mutation_p.D3V|MAX_ENST00000246163.2_Missense_Mutation_p.D3V|MAX_ENST00000341653.2_Missense_Mutation_p.D3V|MAX_ENST00000284165.6_Missense_Mutation_p.D3V|MAX_ENST00000555419.1_Missense_Mutation_p.D3V|MAX_ENST00000358402.4_Missense_Mutation_p.D3V|MAX_ENST00000557277.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.D3V|MAX_ENST00000555932.1_Missense_Mutation_p.D3V	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	3					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCATCGTTATCGCTCATTTC	0.667																																						uc001xif.1																			0				lung(1)	1						c.(7-9)GAT>GTT		MAX protein isoform a							68.0	57.0	60.0					14																	65569050		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65569050T>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.8A>T	14.37:g.65569050T>A	ENSP00000351490:p.Asp3Val					MAX_uc001xic.1_Missense_Mutation_p.D3V|MAX_uc001xie.1_Missense_Mutation_p.D3V|MAX_uc010aql.1_Missense_Mutation_p.D3V|MAX_uc001xig.1_Missense_Mutation_p.D3V|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.D3V|MAX_uc001xij.1_Missense_Mutation_p.D3V|MAX_uc001xik.2_Missense_Mutation_p.D3V	p.D3V	NM_002382	NP_002373	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	1	178	-			3					A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.8A>T	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336274	0.81801	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000555932;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D;D	0.99674	-4.26;-4.7;-4.3;-4.55;-4.18;-6.36;-4.42;-4.55;-4.54;-4.07	4.91	4.91	0.64330	.	0.060442	0.64402	D	0.000005	D	0.99603	0.9856	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.966;1.0;0.994;0.981;0.991;0.973;0.965;0.998	P;D;D;P;D;P;P;D	0.74348	0.85;0.983;0.932;0.84;0.937;0.883;0.902;0.94	D	0.97859	1.0279	10	0.87932	D	0	-7.5389	12.3391	0.55083	0.0:0.0:0.0:1.0	.	3;3;3;3;3;3;3;3	G3V2N4;Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;.;MAX_HUMAN;.;.	V	3	ENSP00000342482:D3V;ENSP00000351175:D3V;ENSP00000284165:D3V;ENSP00000351490:D3V;ENSP00000452405:D3V;ENSP00000452378:D3V;ENSP00000452286:D3V;ENSP00000452197:D3V;ENSP00000450818:D3V;ENSP00000246163:D3V	ENSP00000246163:D3V	D	-	2	0	MAX	64638803	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.691000	0.68249	1.960000	0.56953	0.477000	0.44152	GAT		0.667	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957	
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	rs201324121		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:77942269C>T	ENST00000342219.4	-	7	1441	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_ENST00000429906.1_Missense_Mutation_p.R381H|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.R374H|ISM2_ENST00000412904.1_Missense_Mutation_p.R381H	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	462	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													C|||	0	0.0	0.0	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0					uc001xtz.2																			0				skin(1)	1						c.(1384-1386)CGC>CAC		isthmin 2 homolog isoform 1							30.0	32.0	32.0					14																	77942269		2203	4298	6501	SO:0001583	missense	145501					extracellular region		g.chr14:77942269C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1385G>A	14.37:g.77942269C>T	ENSP00000341490:p.Arg462His					ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.R374H|ISM2_uc010tvl.1_Missense_Mutation_p.R381H	p.R462H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			7	1459	-			462			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1385G>A	CCDS9864.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.228	1.035076	0.19590	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24723	1.84;1.87;1.87;2.18	4.85	-1.09	0.09904	AMOP (3);	0.470130	0.21324	N	0.076419	T	0.17365	0.0417	L	0.50333	1.59	0.09310	N	1	B;B	0.29232	0.055;0.238	B;B	0.20955	0.011;0.032	T	0.13072	-1.0523	10	0.72032	D	0.01	-1.9949	5.174	0.15126	0.0:0.3412:0.155:0.5038	.	381;462	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	H	462;381;381;374	ENSP00000341490:R462H;ENSP00000416773:R381H;ENSP00000395387:R381H;ENSP00000377289:R374H	ENSP00000341490:R462H	R	-	2	0	ISM2	77012022	0.038000	0.19896	0.000000	0.03702	0.000000	0.00434	0.959000	0.29240	-0.097000	0.12307	-0.467000	0.05162	CGC		0.672	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509	
ATG2B	55102	broad.mit.edu	37	14	96752258	96752258	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:96752258A>C	ENST00000359933.4	-	42	6964	c.6071T>G	c.(6070-6072)gTg>gGg	p.V2024G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2024					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCACCAGTCACCCCTCTGCT	0.582																																						uc001yfi.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(6070-6072)GTG>GGG		ATG2 autophagy related 2 homolog B							66.0	60.0	62.0					14																	96752258		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96752258A>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6071T>G	14.37:g.96752258A>C	ENSP00000353010:p.Val2024Gly						p.V2024G	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	42	6436	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	2024					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.6071T>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	29.2	4.989431	0.93106	.	.	ENSG00000066739	ENST00000359933	T	0.10288	2.89	5.8	5.8	0.92144	Autophagy-related, C-terminal (1);	0.170648	0.51477	D	0.000082	T	0.20373	0.0490	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	P	0.53401	0.725	T	0.00901	-1.1521	10	0.29301	T	0.29	.	16.1596	0.81693	1.0:0.0:0.0:0.0	.	2024	Q96BY7	ATG2B_HUMAN	G	2024	ENSP00000353010:V2024G	ENSP00000353010:V2024G	V	-	2	0	ATG2B	95822011	1.000000	0.71417	0.466000	0.27168	0.893000	0.52053	8.938000	0.92943	2.216000	0.71823	0.533000	0.62120	GTG		0.582	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
NPAP1	23742	broad.mit.edu	37	15	24921107	24921107	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:24921107C>T	ENST00000329468.2	+	1	567	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	31					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGTCCCGGGACGCCTCCCCGC	0.697																																						uc001ywo.2																			0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(91-93)GAC>GAT		hypothetical protein LOC23742							6.0	9.0	8.0					15																	24921107		2002	3931	5933	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921107C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.93C>T	15.37:g.24921107C>T							p.D31D	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	567	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	31						Silent	SNP	ENST00000329468.2	37	c.93C>T	CCDS10015.1																																																																																				0.697	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
OCA2	4948	broad.mit.edu	37	15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:28273201G>A	ENST00000354638.3	-	4	486	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	OCA2_ENST00000382996.2_Missense_Mutation_p.R111W|OCA2_ENST00000353809.5_Missense_Mutation_p.R111W	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	111					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488									Oculocutaneous Albinism																													uc001zbh.3																			0				ovary(3)|breast(1)|pancreas(1)	5						c.(331-333)CGG>TGG		oculocutaneous albinism II							101.0	96.0	98.0					15																	28273201		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28273201G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.331C>T	15.37:g.28273201G>A	ENSP00000346659:p.Arg111Trp					OCA2_uc010ayv.2_Missense_Mutation_p.R111W	p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	4	441	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	111			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.331C>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	8.259	0.810666	0.16537	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.93076	-2.68;-2.66;-2.63;-3.16;-2.03	5.02	1.02	0.19986	.	1.588100	0.03933	N	0.285542	D	0.85592	0.5732	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.74303	-0.3709	10	0.51188	T	0.08	7.4157	7.213	0.25945	0.3742:0.0:0.6258:0.0	.	111;111	Q04671-2;Q04671	.;P_HUMAN	W	111	ENSP00000346659:R111W;ENSP00000261276:R111W;ENSP00000372457:R111W;ENSP00000414425:R111W;ENSP00000415431:R111W	ENSP00000261276:R111W	R	-	1	2	OCA2	25946796	0.092000	0.21681	0.000000	0.03702	0.001000	0.01503	1.415000	0.34748	-0.058000	0.13177	-0.259000	0.10710	CGG		0.488	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
WDR76	79968	broad.mit.edu	37	15	44150913	44150913	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:44150913G>A	ENST00000263795.6	+	11	1524	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	WDR76_ENST00000381246.2_Missense_Mutation_p.S421N|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	485										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCAGGAGAAGTCAGCCTTTG	0.403																																						uc001zti.1																			0					0						c.(1453-1455)AGT>AAT		WD repeat domain 76							181.0	174.0	176.0					15																	44150913		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44150913G>A	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1454G>A	15.37:g.44150913G>A	ENSP00000263795:p.Ser485Asn						p.S485N	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	11	1477	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	485			WD 4.		A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1454G>A	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811389	0.32053	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.65732	-0.17;-0.17	5.91	-2.28	0.06826	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.427928	0.29218	N	0.012800	T	0.40909	0.1136	L	0.44542	1.39	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.08806	-1.0704	10	0.23891	T	0.37	-26.6041	1.4318	0.02335	0.3424:0.0982:0.3422:0.2171	.	485	Q9H967	WDR76_HUMAN	N	485;421	ENSP00000263795:S485N;ENSP00000370645:S421N	ENSP00000263795:S485N	S	+	2	0	WDR76	41938205	0.008000	0.16893	0.620000	0.29132	0.724000	0.41520	0.024000	0.13555	-0.068000	0.12953	0.462000	0.41574	AGT		0.403	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908	
ADAMTS7	11173	broad.mit.edu	37	15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	rs151217691	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:79067005T>C	ENST00000388820.4	-	12	2047	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	613	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K613E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642													T|||	2	0.000399361	0.0008	0.0	5008	,	,		22847	0.0		0.001	False		,,,				2504	0.0					uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1837-1839)AAG>GAG		ADAM metallopeptidase with thrombospondin type 1		T	GLU/LYS	2,4390	4.2+/-10.8	0,2,2194	52.0	52.0	52.0		1837	2.5	0.4	15	dbSNP_134	52	1,8577		0,1,4288	no	missense	ADAMTS7	NM_014272.3	56	0,3,6482	CC,CT,TT		0.0117,0.0455,0.0231	possibly-damaging	613/1687	79067005	3,12967	2196	4289	6485	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79067005T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1837A>G	15.37:g.79067005T>C	ENSP00000373472:p.Lys613Glu					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E	p.K613E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			12	2048	-			613			Cys-rich.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1837A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010915	0.75046	4.55E-4	1.17E-4	ENSG00000136378	ENST00000388820	T	0.03745	3.82	3.61	2.48	0.30137	.	0.119618	0.56097	N	0.000038	T	0.05135	0.0137	L	0.52266	1.64	0.32945	D	0.518907	B;P	0.45396	0.414;0.857	B;B	0.43680	0.196;0.427	T	0.18999	-1.0319	10	0.66056	D	0.02	.	7.6721	0.28465	0.0:0.1063:0.0:0.8937	.	613;613	A8MQ00;Q9UKP4	.;ATS7_HUMAN	E	613	ENSP00000373472:K613E	ENSP00000373472:K613E	K	-	1	0	ADAMTS7	76854060	1.000000	0.71417	0.351000	0.25721	0.976000	0.68499	5.906000	0.69900	0.601000	0.29879	0.240000	0.17902	AAG		0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
SSTR5	6755	broad.mit.edu	37	16	1129345	1129345	+	Silent	SNP	G	G	A	rs370872680	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1129345G>A	ENST00000293897.4	+	1	565	c.477G>A	c.(475-477)gcG>gcA	p.A159A	SSTR5_ENST00000562758.1_Silent_p.A159A|SSTR5_ENST00000397547.2_Silent_p.A159A|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	159					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCAAGCTGGCGAGCGCCGCGG	0.706													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		11509	0.0		0.0	False		,,,				2504	0.0					uc002ckq.2																			0				lung(1)	1						c.(475-477)GCG>GCA		somatostatin receptor 5	Octreotide(DB00104)	G	,	1,4337		0,1,2168	12.0	15.0	14.0		477,477	1.7	1.0	16		14	0,8472		0,0,4236	no	coding-synonymous,coding-synonymous	SSTR5	NM_001053.3,NM_001172560.1	,	0,1,6404	AA,AG,GG		0.0,0.0231,0.0078	,	159/365,159/365	1129345	1,12809	2169	4236	6405	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129345G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.477G>A	16.37:g.1129345G>A						LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.A159A	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	565	+		Hepatocellular(780;0.00369)	159			Helical; Name=4; (Potential).		P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.477G>A	CCDS10429.1																																																																																				0.706	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1		
MAPK8IP3	23162	broad.mit.edu	37	16	1814345	1814345	+	Missense_Mutation	SNP	A	A	G	rs375982015	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1814345A>G	ENST00000250894.4	+	19	2319	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.N715S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	721					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAGGCCCAATGAGGACGAC	0.706													A|||	2	0.000399361	0.0	0.0	5008	,	,		13985	0.0		0.0	False		,,,				2504	0.002					uc002cmk.2																			0				breast(2)|central_nervous_system(1)	3						c.(2161-2163)AAT>AGT		mitogen-activated protein kinase 8 interacting		A	SER/ASN,SER/ASN	1,4059		0,1,2029	14.0	20.0	18.0		2144,2162	-1.6	0.0	16		18	0,8328		0,0,4164	no	missense,missense	MAPK8IP3	NM_001040439.1,NM_015133.3	46,46	0,1,6193	GG,GA,AA		0.0,0.0246,0.0081	benign,benign	715/1331,721/1337	1814345	1,12387	2030	4164	6194	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814345A>G	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2162A>G	16.37:g.1814345A>G	ENSP00000250894:p.Asn721Ser					MAPK8IP3_uc002cml.2_Missense_Mutation_p.N715S|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.N722S	p.N721S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			19	2282	+			721					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2162A>G	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	A	4.023	0.001827	0.07819	2.46E-4	0.0	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.27890	1.64;1.64	4.99	-1.64	0.08318	.	1.066860	0.07124	N	0.844323	T	0.07234	0.0183	N	0.00289	-1.7	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25745	-1.0123	10	0.44086	T	0.13	-0.0253	4.5626	0.12168	0.3297:0.0:0.3358:0.3346	.	722;715;721	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	S	721;715	ENSP00000250894:N721S;ENSP00000348290:N715S	ENSP00000250894:N721S	N	+	2	0	MAPK8IP3	1754346	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-0.100000	0.12241	-1.531000	0.00922	AAT		0.706	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	
ADAMTS18	170692	broad.mit.edu	37	16	77356301	77356301	+	Missense_Mutation	SNP	C	C	T	rs142855321		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:77356301C>T	ENST00000282849.5	-	14	2513	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	699	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G699S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCACTTTGCCGGACATTGCA	0.403																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2095-2097)GGC>AGC		ADAM metallopeptidase with thrombospondin type 1		C	SER/GLY	1,4395	2.1+/-5.4	0,1,2197	158.0	151.0	154.0		2095	1.4	1.0	16	dbSNP_134	154	0,8600		0,0,4300	no	missense	ADAMTS18	NM_199355.2	56	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	699/1222	77356301	1,12995	2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356301C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2095G>A	16.37:g.77356301C>T	ENSP00000282849:p.Gly699Ser					ADAMTS18_uc010chc.1_Missense_Mutation_p.G287S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G395S	p.G699S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			14	2514	-			699			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2095G>A	CCDS10926.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.13	1.547781	0.27652	2.27E-4	0.0	ENSG00000140873	ENST00000282849	T	0.66815	-0.23	5.93	1.35	0.21983	.	0.438446	0.26055	N	0.026612	T	0.34048	0.0884	N	0.03253	-0.375	0.28748	N	0.901594	B;B	0.12013	0.005;0.0	B;B	0.13407	0.009;0.002	T	0.16041	-1.0416	10	0.15952	T	0.53	.	5.0613	0.14559	0.1451:0.445:0.0:0.4099	.	699;699	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	699	ENSP00000282849:G699S	ENSP00000282849:G699S	G	-	1	0	ADAMTS18	75913802	0.912000	0.30974	0.970000	0.41538	0.990000	0.78478	1.167000	0.31847	0.407000	0.25591	-0.126000	0.14955	GGC		0.403	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
MYO15A	51168	broad.mit.edu	37	17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18022706G>A	ENST00000205890.5	+	2	930	c.592G>A	c.(592-594)Gcg>Acg	p.A198T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	198					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)			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)					CAGCATCTACGCGTCAGGCGA	0.701																																						uc010vxh.1																			0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(592-594)GCG>ACG		myosin XV							22.0	25.0	24.0					17																	18022706		1960	4134	6094	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022706G>A	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.592G>A	17.37:g.18022706G>A	ENSP00000205890:p.Ala198Thr						p.A198T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	930	+	all_neural(463;0.228)		198			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.592G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	5.34	2.01	0.26516	.	.	.	.	.	T	0.73434	0.3586	N	0.19112	0.55	0.18873	N	0.999983	P	0.36535	0.557	B	0.22753	0.041	T	0.60311	-0.7288	9	0.54805	T	0.06	.	9.1987	0.37244	0.0:0.1113:0.3807:0.508	.	198	Q9UKN7	MYO15_HUMAN	T	198	ENSP00000205890:A198T	ENSP00000205890:A198T	A	+	1	0	MYO15A	17963431	0.057000	0.20700	0.029000	0.17559	0.158000	0.22134	1.093000	0.30939	0.105000	0.17753	-0.324000	0.08512	GCG		0.701	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
FAM83G	644815	broad.mit.edu	37	17	18891569	18891569	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18891569C>T	ENST00000388995.6	-	3	904	c.681G>A	c.(679-681)ggG>ggA	p.G227G	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Silent_p.G227G|FAM83G_ENST00000345041.4_Silent_p.G227G|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	227					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCTTGAGGTGCCCCAGGTGCA	0.577																																						uc002guw.2																			0				ovary(1)|central_nervous_system(1)	2						c.(679-681)GGG>GGA		hypothetical protein LOC644815							76.0	80.0	79.0					17																	18891569		2071	4210	6281	SO:0001819	synonymous_variant	644815							g.chr17:18891569C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.681G>A	17.37:g.18891569C>T						SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.G227G	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			3	848	-			227					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.681G>A	CCDS42276.1																																																																																				0.577	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4		
STAT5B	6777	broad.mit.edu	37	17	40370236	40370236	+	Frame_Shift_Del	DEL	G	G	-	rs144993426		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:40370236delG	ENST00000293328.3	-	9	1270	c.1102delC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCCTTCACCTGGGGGGGGTTC	0.577																																						uc002hzh.2																			0				ovary(3)|lung(2)|skin(1)	6						c.(1102-1104)CAGfs		signal transducer and activator of transcription	Dasatinib(DB01254)						109.0	87.0	94.0					17																	40370236		2203	4300	6503	SO:0001589	frameshift_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370236delG	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1102delC	17.37:g.40370236delG	ENSP00000293328:p.Gln368fs					STAT5B_uc002hzi.3_Frame_Shift_Del_p.Q368fs	p.Q368fs	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1271	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	368					Q8WWS8	Frame_Shift_Del	DEL	ENST00000293328.3	37	c.1102delC	CCDS11423.1																																																																																				0.577	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
ACE	1636	broad.mit.edu	37	17	61560507	61560507	+	Missense_Mutation	SNP	G	G	A	rs376430907		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:61560507G>A	ENST00000290866.4	+	9	1484	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ACE_ENST00000421982.2_5'Flank|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R487H|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	487	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCCCTTCCCGCTACAACTTC	0.587																																						uc002jau.1																			0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1459-1461)CGC>CAC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	G	HIS/ARG	0,4406		0,0,2203	118.0	130.0	126.0		1460	-2.5	1.0	17		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACE	NM_000789.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	487/1307	61560507	1,13005	2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560507G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1460G>A	17.37:g.61560507G>A	ENSP00000290866:p.Arg487His					ACE_uc010wpi.1_Intron|ACE_uc010ddu.1_Missense_Mutation_p.R304H|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	p.R487H	NM_000789	NP_000780	P12821	ACE_HUMAN			9	1482	+			487			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1460G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450318	0.26074	0.0	1.16E-4	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.34667	1.35;1.35	4.66	-2.49	0.06403	.	0.402953	0.25267	N	0.031903	T	0.28366	0.0701	L	0.48642	1.525	0.09310	N	1	D;P	0.61080	0.989;0.803	P;B	0.46144	0.505;0.235	T	0.29150	-1.0021	10	0.37606	T	0.19	-7.4058	7.5541	0.27814	0.2107:0.0:0.5263:0.263	.	487;487	P12821-2;P12821	.;ACE_HUMAN	H	487	ENSP00000290866:R487H;ENSP00000397593:R487H	ENSP00000290866:R487H	R	+	2	0	ACE	58914239	0.085000	0.21516	0.966000	0.40874	0.146000	0.21551	0.565000	0.23578	-0.243000	0.09653	-2.303000	0.00259	CGC		0.587	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
SOX9	6662	broad.mit.edu	37	17	70117873	70117873	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:70117873T>C	ENST00000245479.2	+	1	713	c.341T>C	c.(340-342)gTg>gCg	p.V114A		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	114					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCTTCATGGTGTGGGCGCAG	0.657																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2																			0					0						c.(340-342)GTG>GCG		transcription factor SOX9							28.0	23.0	25.0					17																	70117873		2201	4298	6499	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70117873T>C	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.341T>C	17.37:g.70117873T>C	ENSP00000245479:p.Val114Ala					uc002jiv.2_5'Flank	p.V114A	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		1	713	+		Colorectal(1115;0.245)	114			HMG box.		Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.341T>C	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851092	0.71719	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.98221	-4.8	3.99	3.99	0.46301	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.98175	0.9397	M	0.90650	3.135	0.80722	D	1	B	0.31968	0.349	B	0.39379	0.298	D	0.99758	1.1020	10	0.87932	D	0	.	12.8893	0.58061	0.0:0.0:0.0:1.0	.	114	P48436	SOX9_HUMAN	A	114	ENSP00000245479:V114A	ENSP00000245479:V114A	V	+	2	0	SOX9	67629468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.796000	0.85898	1.449000	0.47699	0.358000	0.22013	GTG		0.657	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346	
CSNK1D	1453	broad.mit.edu	37	17	80213441	80213441	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:80213441G>A	ENST00000314028.6	-	3	549	c.200C>T	c.(199-201)aCc>aTc	p.T67I	CSNK1D_ENST00000578904.1_5'Flank|CSNK1D_ENST00000398519.5_Missense_Mutation_p.T67I|CSNK1D_ENST00000392334.2_Missense_Mutation_p.T67I|AC132872.2_ENST00000598222.1_5'Flank	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	67	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCATCTGATGGTGGGGATGCC	0.572																																						uc002kej.2																			0				breast(2)	2						c.(199-201)ACC>ATC		casein kinase 1, delta isoform 1							114.0	103.0	107.0					17																	80213441		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80213441G>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.200C>T	17.37:g.80213441G>A	ENSP00000324464:p.Thr67Ile					SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.T67I|CSNK1D_uc002kei.2_Missense_Mutation_p.T67I|CSNK1D_uc010wvj.1_5'UTR|CSNK1D_uc002keh.2_5'Flank|CSNK1D_uc010dim.1_5'Flank	p.T67I	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		3	516	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		67			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.200C>T	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565031	0.27915	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000403276	T;T;T	0.64085	-0.08;-0.08;-0.08	5.42	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044986	0.85682	D	0.000000	T	0.54532	0.1864	L	0.45422	1.42	0.47905	D	0.99954	B;B;B	0.19706	0.013;0.018;0.038	B;B;B	0.17979	0.02;0.011;0.02	T	0.53641	-0.8410	10	0.42905	T	0.14	.	14.6875	0.69059	0.0:0.0:0.8548:0.1452	.	67;67;10	P48730;P48730-2;B4E0G1	KC1D_HUMAN;.;.	I	67;67;10;67	ENSP00000324464:T67I;ENSP00000376146:T67I;ENSP00000385769:T67I	ENSP00000324464:T67I	T	-	2	0	CSNK1D	77806730	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.036000	0.57304	2.553000	0.86117	0.651000	0.88453	ACC		0.572	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062	
ANKRD30B	374860	broad.mit.edu	37	18	14803789	14803789	+	Silent	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:14803789A>G	ENST00000358984.4	+	24	2430	c.2250A>G	c.(2248-2250)caA>caG	p.Q750Q	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	750										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTACACATCAAAAAGAATTCG	0.323																																						uc010dlo.2																			0				ovary(1)|skin(1)	2						c.(2248-2250)CAA>CAG		ankyrin repeat domain 30B							44.0	35.0	38.0					18																	14803789		691	1588	2279	SO:0001819	synonymous_variant	374860							g.chr18:14803789A>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2250A>G	18.37:g.14803789A>G						ANKRD30B_uc010xak.1_RNA	p.Q750Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			24	2430	+			835					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.2250A>G	CCDS54182.1																																																																																				0.323	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A	rs200956310		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1063-1065)aaafs	p.K355fs	RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K355fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	355					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination																														uc002ktw.2																			6	Substitution - Missense(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)		ovary(2)|central_nervous_system(2)|endometrium(2)	ovary(1)|lung(1)|skin(1)	3						c.(1060-1065)GGGAAAfs	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572852_20572853insA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1071dupA	18.37:g.20572861_20572861dupA	ENSP00000382628:p.Lys355fs					RBBP8_uc002kty.2_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktz.2_Frame_Shift_Ins_p.G354fs|RBBP8_uc002kua.2_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.G354fs	p.G354fs	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1393_1394	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		354_355					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.1062_1063insA	CCDS11875.1																																																																																				0.361	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
PIGN	23556	broad.mit.edu	37	18	59757728	59757728	+	Missense_Mutation	SNP	C	C	T	rs377599365		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:59757728C>T	ENST00000357637.5	-	24	2679	c.2264G>A	c.(2263-2265)gGt>gAt	p.G755D	PIGN_ENST00000400334.3_Missense_Mutation_p.G755D	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	755					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAGCAAACACCAGATTGTTG	0.343																																						uc002lii.3																			0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(2263-2265)GGT>GAT		phosphatidylinositol glycan anchor biosynthesis,							84.0	77.0	79.0					18																	59757728		1809	4072	5881	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59757728C>T	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2264G>A	18.37:g.59757728C>T	ENSP00000350263:p.Gly755Asp					PIGN_uc002lij.3_Missense_Mutation_p.G755D	p.G755D	NM_176787	NP_789744	O95427	PIGN_HUMAN			25	2712	-		Colorectal(73;0.187)	755			Lumenal (Potential).		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.2264G>A	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667970	0.14710	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.54071	0.59;0.59	5.45	1.43	0.22495	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.266978	0.36034	N	0.002825	T	0.44030	0.1274	M	0.68593	2.085	0.44234	D	0.997076	B;B	0.15141	0.007;0.012	B;B	0.24848	0.056;0.056	T	0.16217	-1.0410	10	0.13853	T	0.58	-0.6139	6.0936	0.20008	0.2726:0.5759:0.0:0.1515	.	755;755	B2RCI8;O95427	.;PIGN_HUMAN	D	755	ENSP00000350263:G755D;ENSP00000383188:G755D	ENSP00000350263:G755D	G	-	2	0	PIGN	57908708	0.451000	0.25705	0.019000	0.16419	0.555000	0.35460	1.003000	0.29809	-0.038000	0.13624	0.491000	0.48974	GGT		0.343	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787	
KCNG2	26251	broad.mit.edu	37	18	77623839	77623839	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:77623839G>A	ENST00000316249.3	+	1	172	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	58					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTGCGCGTGTGTGACGA	0.741																																						uc010xfl.1																			0					0						c.(172-174)GTG>ATG		potassium voltage-gated channel, subfamily G,							16.0	14.0	15.0					18																	77623839		2190	4275	6465	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623839G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.172G>A	18.37:g.77623839G>A	ENSP00000315654:p.Val58Met						p.V58M	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	172	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	58			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000316249.3	37	c.172G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942439	0.34283	.	.	ENSG00000178342	ENST00000316249	D	0.97505	-4.41	3.8	2.92	0.33932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.260219	0.30392	U	0.009727	D	0.97204	0.9086	M	0.78801	2.425	0.28923	N	0.892004	D	0.63046	0.992	P	0.58130	0.833	D	0.93505	0.6848	10	0.59425	D	0.04	.	7.0841	0.25247	0.2871:0.0:0.7129:0.0	.	58	Q9UJ96	KCNG2_HUMAN	M	58	ENSP00000315654:V58M	ENSP00000315654:V58M	V	+	1	0	KCNG2	75724827	0.945000	0.32115	0.999000	0.59377	0.128000	0.20619	1.453000	0.35167	0.587000	0.29643	0.484000	0.47621	GTG		0.741	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283	
C19orf35	374872	broad.mit.edu	37	19	2278816	2278816	+	Missense_Mutation	SNP	C	C	A	rs184271660		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:2278816C>A	ENST00000342063.3	-	3	472	c.379G>T	c.(379-381)Gat>Tat	p.D127Y		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	127										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGCAGATCGCGGAGGGAG	0.692																																						uc002lvn.2																			0				pancreas(1)	1						c.(379-381)GAT>TAT		hypothetical protein LOC374872																																				SO:0001583	missense	374872							g.chr19:2278816C>A	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.379G>T	19.37:g.2278816C>A	ENSP00000345102:p.Asp127Tyr					SPPL2B_uc010dsw.1_Intron	p.D127Y	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	479	-			127						Missense_Mutation	SNP	ENST00000342063.3	37	c.379G>T	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110499	0.37242	.	.	ENSG00000188305	ENST00000342063	T	0.17370	2.28	4.1	1.93	0.25924	.	.	.	.	.	T	0.20495	0.0493	L	0.60455	1.87	0.09310	N	1	P	0.47191	0.891	P	0.45195	0.473	T	0.09015	-1.0694	9	0.66056	D	0.02	.	8.0342	0.30482	0.0:0.7973:0.0:0.2027	.	127	Q6ZS72	CS035_HUMAN	Y	127	ENSP00000345102:D127Y	ENSP00000345102:D127Y	D	-	1	0	C19orf35	2229816	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.518000	0.22847	0.191000	0.20236	-0.860000	0.03012	GAT		0.692	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532	
CLEC4M	10332	broad.mit.edu	37	19	7833851	7833851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:7833851G>A	ENST00000327325.5	+	7	1295	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CLEC4M_ENST00000596707.1_Missense_Mutation_p.A326T|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A381T|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A342T|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A326T|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A257T|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A371T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	393					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAAAAGCCCGCAGCCTGCTT	0.498																																						uc002mih.2																			0				pancreas(1)	1						c.(1108-1110)GCA>ACA		C-type lectin domain family 4, member M isoform							160.0	128.0	139.0					19																	7833851		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833851G>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1177G>A	19.37:g.7833851G>A	ENSP00000316228:p.Ala393Thr					CLEC4M_uc010xjw.1_Missense_Mutation_p.A326T|CLEC4M_uc010dvt.2_Missense_Mutation_p.A347T|CLEC4M_uc010dvs.2_Missense_Mutation_p.A369T|CLEC4M_uc010xjx.1_Missense_Mutation_p.A342T|CLEC4M_uc002mhz.2_3'UTR|CLEC4M_uc002mic.2_3'UTR|CLEC4M_uc002mia.2_Missense_Mutation_p.A257T	p.A370T	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			8	1226	+			393			Extracellular (Probable).		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1108G>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	G	6.020	0.371994	0.11409	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	2.12	-4.23	0.03789	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.13372	0.0324	L	0.42632	1.34	0.09310	N	1	B;B;B;B;B;B	0.28667	0.04;0.0;0.028;0.004;0.219;0.101	B;B;B;B;B;B	0.23574	0.011;0.001;0.006;0.006;0.014;0.047	T	0.13764	-1.0497	9	0.54805	T	0.06	.	3.3622	0.07190	0.4991:0.0:0.2259:0.275	.	342;326;393;381;370;257	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	T	393;381;371;342;326	ENSP00000316228:A393T;ENSP00000377680:A381T;ENSP00000248228:A371T;ENSP00000335228:A342T;ENSP00000351954:A326T	ENSP00000248228:A371T	A	+	1	0	CLEC4M	7739851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.858000	0.00177	-1.839000	0.01186	-1.809000	0.00614	GCA		0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
FBN3	84467	broad.mit.edu	37	19	8148157	8148157	+	Missense_Mutation	SNP	G	G	T	rs372328082		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:8148157G>T	ENST00000600128.1	-	57	7601	c.7187C>A	c.(7186-7188)cCg>cAg	p.P2396Q	FBN3_ENST00000270509.2_Missense_Mutation_p.P2396Q|FBN3_ENST00000601739.1_Missense_Mutation_p.P2396Q			Q75N90	FBN3_HUMAN	fibrillin 3	2396	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTAGCATCCGGTGTGTACCC	0.602																																						uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(7186-7188)CCG>CAG		fibrillin 3 precursor							166.0	123.0	137.0					19																	8148157		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8148157G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7187C>A	19.37:g.8148157G>T	ENSP00000470498:p.Pro2396Gln					FBN3_uc002mje.2_Missense_Mutation_p.P235Q	p.P2396Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			56	7208	-			2396			EGF-like 38; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7187C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859597	0.51376	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92199	-2.99	5.13	3.0	0.34707	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.465867	0.21569	U	0.072440	D	0.92532	0.7628	L	0.51422	1.61	0.09310	N	1	P;P	0.49090	0.919;0.896	P;P	0.58721	0.793;0.844	D	0.84857	0.0817	10	0.25751	T	0.34	.	11.723	0.51693	0.1448:0.0:0.8552:0.0	.	2396;502	Q75N90;Q6ZNB8	FBN3_HUMAN;.	Q	2396;502	ENSP00000270509:P2396Q	ENSP00000270509:P2396Q	P	-	2	0	FBN3	8054157	0.736000	0.28164	0.002000	0.10522	0.004000	0.04260	4.192000	0.58378	0.577000	0.29470	-0.320000	0.08662	CCG		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MUC16	94025	broad.mit.edu	37	19	9056233	9056233	+	Missense_Mutation	SNP	C	C	T	rs201549151		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9056233C>T	ENST00000397910.4	-	3	31416	c.31213G>A	c.(31213-31215)Gtt>Att	p.V10405I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10407	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGCTCAACGCTCTCTGTC	0.483																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31213-31215)GTT>ATT		mucin 16		C	ILE/VAL	1,4039		0,1,2019	203.0	201.0	201.0		31213	-0.7	0.0	19		201	0,8372		0,0,4186	yes	missense	MUC16	NM_024690.2	29	0,1,6205	TT,TC,CC		0.0,0.0248,0.0081	benign	10405/14508	9056233	1,12411	2020	4186	6206	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056233C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31213G>A	19.37:g.9056233C>T	ENSP00000381008:p.Val10405Ile						p.V10405I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	31417	-			10407			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31213G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.457	0.854377	0.17106	2.48E-4	0.0	ENSG00000181143	ENST00000397910	T	0.02421	4.3	3.94	-0.726	0.11170	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.13145	0.007	B	0.08055	0.003	T	0.42865	-0.9426	8	0.87932	D	0	.	3.7964	0.08741	0.0:0.487:0.1816:0.3314	.	10405	B5ME49	.	I	10405	ENSP00000381008:V10405I	ENSP00000381008:V10405I	V	-	1	0	MUC16	8917233	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.257000	0.02866	-0.025000	0.13918	-0.778000	0.03378	GTT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OLFM2	93145	broad.mit.edu	37	19	9965148	9965148	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9965148G>A	ENST00000264833.4	-	6	1264	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	OLFM2_ENST00000590841.1_Missense_Mutation_p.S282F|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	360	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGTCCCAGGACCGCATGAC	0.657																																						uc002mmp.2																			0				large_intestine(1)|skin(1)	2						c.(1078-1080)TCC>TTC		olfactomedin 2 precursor							79.0	73.0	75.0					19																	9965148		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965148G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1079C>T	19.37:g.9965148G>A	ENSP00000264833:p.Ser360Phe					OLFM2_uc002mmo.2_Missense_Mutation_p.S282F	p.S360F	NM_058164	NP_477512	O95897	NOE2_HUMAN			6	1107	-			360			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1079C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848413	0.71603	.	.	ENSG00000105088	ENST00000264833	D	0.89485	-2.52	4.36	4.36	0.52297	Olfactomedin-like (3);	0.064020	0.64402	D	0.000012	D	0.93844	0.8031	M	0.81802	2.56	0.41503	D	0.988295	D	0.64830	0.994	D	0.71184	0.972	D	0.94158	0.7412	9	.	.	.	.	14.4229	0.67196	0.0:0.0:1.0:0.0	.	360	O95897	NOE2_HUMAN	F	360	ENSP00000264833:S360F	.	S	-	2	0	OLFM2	9826148	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.752000	0.38349	2.239000	0.73571	0.561000	0.74099	TCC		0.657	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
CYP4F11	57834	broad.mit.edu	37	19	16025652	16025652	+	Missense_Mutation	SNP	C	C	T	rs201684723		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:16025652C>T	ENST00000402119.4	-	9	1595	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CYP4F11_ENST00000248041.8_Missense_Mutation_p.R390Q|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R390Q|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R65Q	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGATGCAACCGCAGGCTCTC	0.592																																						uc002nbu.2																			0				ovary(1)	1						c.(1168-1170)CGG>CAG		cytochrome P450 family 4 subfamily F polypeptide							90.0	92.0	92.0					19																	16025652		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025652C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1169G>A	19.37:g.16025652C>T	ENSP00000384588:p.Arg390Gln					CYP4F11_uc010eab.1_Missense_Mutation_p.R390Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.R390Q	p.R390Q	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			10	1205	-			390						Missense_Mutation	SNP	ENST00000402119.4	37	c.1169G>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	19.83	3.899934	0.72754	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.97480	-4.4;-4.4;-4.4	2.74	1.69	0.24217	.	0.000000	0.64402	U	0.000003	D	0.98957	0.9645	H	0.99454	4.575	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.97297	0.9928	10	0.87932	D	0	.	7.7512	0.28898	0.0:0.865:0.0:0.135	.	390;390	F8W978;Q9HBI6	.;CP4FB_HUMAN	Q	390	ENSP00000384588:R390Q;ENSP00000248041:R390Q;ENSP00000319859:R390Q	ENSP00000248041:R390Q	R	-	2	0	CYP4F11	15886652	1.000000	0.71417	0.325000	0.25375	0.044000	0.14063	5.244000	0.65400	0.473000	0.27368	-0.369000	0.07265	CGG		0.592	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	
ZNF302	55900	broad.mit.edu	37	19	35175342	35175342	+	Missense_Mutation	SNP	C	C	G	rs527508448		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:35175342C>G	ENST00000446502.2	+	6	740	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V	ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.L134V|ZNF302_ENST00000505242.1_Missense_Mutation_p.L134V|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.L134V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGTCTACTCTTTCTGAACC	0.274																																						uc002nvr.1																			0					0						c.(532-534)CTT>GTT		zinc finger protein 302							35.0	36.0	36.0					19																	35175342		2102	4247	6349	SO:0001583	missense	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175342C>G	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.532C>G	19.37:g.35175342C>G	ENSP00000396379:p.Leu178Val					ZNF302_uc002nvp.1_Missense_Mutation_p.L134V|ZNF302_uc002nvq.1_Missense_Mutation_p.L134V|ZNF302_uc002nvs.1_Missense_Mutation_p.L134V	p.L178V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	795	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		213					Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37	c.532C>G		.	.	.	.	.	.	.	.	.	.	C	3.636	-0.074627	0.07184	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.05139	3.52;3.52;5.79;3.52;3.49	1.15	-1.17	0.09648	.	.	.	.	.	T	0.07503	0.0189	M	0.69523	2.12	0.09310	N	1	B;P	0.35575	0.018;0.51	B;B	0.32864	0.025;0.154	T	0.20174	-1.0283	9	0.56958	D	0.05	.	5.2539	0.15537	0.0:0.611:0.0:0.389	.	178;134	E7EVR1;Q9NR11-2	.;.	V	134;134;134;134;178	ENSP00000391067:L134V;ENSP00000421028:L134V;ENSP00000421696:L134V;ENSP00000405219:L134V;ENSP00000396379:L178V	ENSP00000405219:L134V	L	+	1	0	ZNF302	39867182	0.000000	0.05858	0.156000	0.22583	0.022000	0.10575	-0.628000	0.05515	-0.339000	0.08401	0.467000	0.42956	CTT		0.274	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1		
SHKBP1	92799	broad.mit.edu	37	19	41083170	41083170	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:41083170C>A	ENST00000291842.5	+	2	169	c.120C>A	c.(118-120)atC>atA	p.I40I	SHKBP1_ENST00000600733.1_Silent_p.I40I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	40	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCTGGATCCCAGACTCCT	0.617																																						uc002oob.2																			0				ovary(1)|pancreas(1)	2						c.(118-120)ATC>ATA		SH3KBP1 binding protein 1							106.0	88.0	94.0					19																	41083170		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41083170C>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.120C>A	19.37:g.41083170C>A						SHKBP1_uc002ooc.2_Silent_p.I40I|SHKBP1_uc002ood.2_Silent_p.I40I|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.2_5'UTR|SHKBP1_uc002oof.2_5'Flank|SHKBP1_uc010xvm.1_5'Flank|SHKBP1_uc010xvn.1_5'Flank	p.I40I	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	169	+			40			BTB.		Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.120C>A	CCDS12560.1																																																																																				0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	
LILRB2	10288	broad.mit.edu	37	19	54782692	54782692	+	Silent	SNP	G	G	A	rs201113515	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:54782692G>A	ENST00000391749.4	-	6	1201	c.930C>T	c.(928-930)agC>agT	p.S310S	LILRB2_ENST00000434421.1_Silent_p.S194S|LILRB2_ENST00000391748.1_Silent_p.S310S|LILRB2_ENST00000314446.5_Silent_p.S310S|LILRB2_ENST00000391746.1_Silent_p.S310S|LILRB2_ENST00000471216.1_5'Flank	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	310	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGGGTCGCTGGGGGCCG	0.642																																						uc002qfb.2																			0				skin(1)	1						c.(928-930)AGC>AGT		leukocyte immunoglobulin-like receptor,							23.0	21.0	21.0					19																	54782692		2199	4275	6474	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782692G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.930C>T	19.37:g.54782692G>A						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.S310S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.S310S|LILRB2_uc010yet.1_Silent_p.S194S|LILRB2_uc010yeu.1_RNA	p.S310S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1196	-	Ovarian(34;0.19)		310			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.930C>T	CCDS12886.1																																																																																				0.642	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
SBK2	646643	broad.mit.edu	37	19	56047476	56047476	+	Silent	SNP	G	G	A	rs367873141		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:56047476G>A	ENST00000413299.1	-	2	223	c.186C>T	c.(184-186)taC>taT	p.Y62Y	SBK2_ENST00000344158.3_Silent_p.Y62Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACTTCCTCGTAGAGCTCGT	0.652																																						uc010ygc.1																			0					0						c.(184-186)TAC>TAT		SH3-binding domain kinase family, member 2		G		0,4224		0,0,2112	33.0	38.0	36.0		186	2.2	0.8	19		36	1,8415		0,1,4207	no	coding-synonymous	SBK2	NM_001101401.2		0,1,6319	AA,AG,GG		0.0119,0.0,0.0079		62/349	56047476	1,12639	2112	4208	6320	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047476G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.186C>T	19.37:g.56047476G>A							p.Y62Y	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			1	186	-			62			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.186C>T	CCDS42631.1																																																																																				0.652	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401	
IHH	3549	broad.mit.edu	37	2	219920384	219920384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr2:219920384C>T	ENST00000295731.6	-	3	780	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	261					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGAGTCTCGATGACCTGG	0.647																																						uc002vjo.1																			0				breast(1)	1						c.(781-783)GAG>AAG		Indian hedgehog homolog precursor							53.0	56.0	55.0					2																	219920384		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920384C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.781G>A	2.37:g.219920384C>T	ENSP00000295731:p.Glu261Lys						p.E261K	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	781	-		Renal(207;0.0915)	261					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.781G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821829	0.50633	.	.	ENSG00000163501	ENST00000295731	D	0.99319	-5.74	5.16	5.16	0.70880	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.338860	0.34986	N	0.003521	D	0.97470	0.9172	L	0.52266	1.64	0.33830	D	0.630094	P	0.34724	0.465	B	0.29942	0.109	D	0.99975	1.2159	10	0.37606	T	0.19	-4.8243	11.7486	0.51835	0.0:0.9179:0.0:0.0821	.	261	Q14623	IHH_HUMAN	K	261	ENSP00000295731:E261K	ENSP00000295731:E261K	E	-	1	0	IHH	219628628	0.926000	0.31397	0.998000	0.56505	0.982000	0.71751	1.997000	0.40786	2.381000	0.81170	0.561000	0.74099	GAG		0.647	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181	
ADAM33	80332	broad.mit.edu	37	20	3655285	3655285	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:3655285G>A	ENST00000356518.2	-	6	707	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ADAM33_ENST00000350009.2_Missense_Mutation_p.R156W|ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000379861.4_Missense_Mutation_p.R156W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	156					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGGAGCCCCGGGGTGGCCAG	0.607																																						uc002wit.2																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(466-468)CGG>TGG		ADAM metallopeptidase domain 33 isoform alpha							77.0	90.0	85.0					20																	3655285		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655285G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.466C>T	20.37:g.3655285G>A	ENSP00000348912:p.Arg156Trp					ADAM33_uc002wir.1_Missense_Mutation_p.R156W|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R156W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R168W|ADAM33_uc010zqh.1_Missense_Mutation_p.R156W	p.R156W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			6	553	-			156			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.466C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085724	0.36758	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.06142	3.34;3.34;3.34	4.98	1.78	0.24846	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.11281	0.0275	N	0.19112	0.55	0.21527	N	0.999659	D;D;D;D;D	0.67145	0.996;0.966;0.976;0.98;0.98	D;P;P;P;P	0.68765	0.96;0.72;0.599;0.72;0.72	T	0.24368	-1.0162	9	0.87932	D	0	.	9.6225	0.39730	0.0:0.6413:0.2787:0.08	.	156;168;156;156;156	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	W	156	ENSP00000348912:R156W;ENSP00000369190:R156W;ENSP00000322550:R156W	ENSP00000322550:R156W	R	-	1	2	ADAM33	3603285	0.000000	0.05858	0.011000	0.14972	0.007000	0.05969	-0.292000	0.08332	0.803000	0.34113	-0.165000	0.13383	CGG		0.607	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220	
CHGB	1114	broad.mit.edu	37	20	5904558	5904558	+	Missense_Mutation	SNP	G	G	A	rs148235020		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:5904558G>A	ENST00000378961.4	+	4	1972	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	590						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAAACCTCGCCAGGGTCCC	0.498																																						uc002wmg.2																			0				breast(3)|skin(2)|ovary(1)	6						c.(1768-1770)GCC>ACC		chromogranin B precursor		G	THR/ALA	0,4406		0,0,2203	44.0	43.0	43.0		1768	-3.0	0.0	20	dbSNP_134	43	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHGB	NM_001819.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	590/678	5904558	2,13004	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904558G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1768G>A	20.37:g.5904558G>A	ENSP00000368244:p.Ala590Thr					CHGB_uc010zqz.1_Missense_Mutation_p.A273T	p.A590T	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	2074	+			590					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1768G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212732	0.39102	0.0	2.33E-4	ENSG00000089199	ENST00000378961	T	0.01804	4.63	5.79	-2.98	0.05513	.	0.935397	0.08957	N	0.869218	T	0.01592	0.0051	N	0.25647	0.755	0.09310	N	1	P	0.51653	0.947	B	0.43889	0.435	T	0.49021	-0.8982	10	0.49607	T	0.09	-0.1548	5.6767	0.17753	0.1719:0.4561:0.2788:0.0931	.	590	P05060	SCG1_HUMAN	T	590	ENSP00000368244:A590T	ENSP00000368244:A590T	A	+	1	0	CHGB	5852558	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-0.002000	0.12924	-0.139000	0.11414	0.561000	0.74099	GCC		0.498	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
PAK7	57144	broad.mit.edu	37	20	9543605	9543605	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:9543605C>T	ENST00000378429.3	-	7	2095	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PAK7_ENST00000378423.1_Missense_Mutation_p.D517N|PAK7_ENST00000353224.5_Missense_Mutation_p.D517N	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGAGCTCATCGCCGACAAGG	0.478																																						uc002wnl.2																			0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1549-1551)GAT>AAT		p21-activated kinase 7							176.0	159.0	165.0					20																	9543605		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9543605C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1549G>A	20.37:g.9543605C>T	ENSP00000367686:p.Asp517Asn					PAK7_uc002wnk.2_Missense_Mutation_p.D517N|PAK7_uc002wnj.2_Missense_Mutation_p.D517N|PAK7_uc010gby.1_Missense_Mutation_p.D517N	p.D517N	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		7	2094	-			517			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1549G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666442	0.96745	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.13538	2.58;2.58;2.58	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	N	0.03967	-0.31	0.80722	D	1	P;P	0.46621	0.881;0.881	P;P	0.55577	0.779;0.779	T	0.42137	-0.9469	9	.	.	.	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	517;517	B0AZM9;Q9P286	.;PAK7_HUMAN	N	517;517;517;465	ENSP00000367686:D517N;ENSP00000322957:D517N;ENSP00000367679:D517N	.	D	-	1	0	PAK7	9491605	1.000000	0.71417	0.967000	0.41034	0.900000	0.52787	7.788000	0.85771	2.840000	0.97914	0.655000	0.94253	GAT		0.478	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
COL20A1	57642	broad.mit.edu	37	20	61959711	61959711	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:61959711C>T	ENST00000358894.6	+	34	3742	c.3642C>T	c.(3640-3642)caC>caT	p.H1214H	COL20A1_ENST00000422202.1_Silent_p.H1227H|COL20A1_ENST00000435874.1_Silent_p.H1227H|COL20A1_ENST00000326996.6_Silent_p.H1246H	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1214					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACTCCTTCCACGAGAACACCA	0.672																																						uc011aau.1																			0				central_nervous_system(1)	1						c.(3640-3642)CAC>CAT		collagen, type XX, alpha 1							33.0	37.0	36.0					20																	61959711		2036	4164	6200	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959711C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3642C>T	20.37:g.61959711C>T						COL20A1_uc011aav.1_Silent_p.H1041H	p.H1214H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			34	3742	+	all_cancers(38;1.39e-10)		1214					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3642C>T	CCDS46628.1																																																																																				0.672	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
CLDN14	23562	broad.mit.edu	37	21	37833779	37833779	+	Missense_Mutation	SNP	G	G	A	rs573588226	byFrequency	TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr21:37833779G>A	ENST00000399137.1	-	3	1081	c.215C>T	c.(214-216)gCg>gTg	p.A72V	CLDN14_ENST00000399135.1_Missense_Mutation_p.A72V|CLDN14_ENST00000342108.2_Missense_Mutation_p.A72V|CLDN14_ENST00000399136.1_Missense_Mutation_p.A72V|AP000695.4_ENST00000454980.1_RNA|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.A72V	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	72					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						TTGGGGCAGCGCCAGCAGGGA	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19004	0.002		0.0	False		,,,				2504	0.0					uc002yvk.1																			0					0						c.(214-216)GCG>GTG		claudin 14							54.0	39.0	44.0					21																	37833779		2203	4300	6503	SO:0001583	missense	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833779G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.215C>T	21.37:g.37833779G>A	ENSP00000382090:p.Ala72Val					CLDN14_uc002yvn.1_Missense_Mutation_p.A72V|CLDN14_uc002yvo.1_Missense_Mutation_p.A72V|CLDN14_uc002yvl.1_Missense_Mutation_p.A72V|CLDN14_uc002yvm.1_Missense_Mutation_p.A72V	p.A72V	NM_012130	NP_036262	O95500	CLD14_HUMAN			2	357	-			72			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000399137.1	37	c.215C>T	CCDS13645.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449065	0.84101	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	M	0.87900	2.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.95485	0.8564	10	0.62326	D	0.03	.	19.4626	0.94924	0.0:0.0:1.0:0.0	.	72	O95500	CLD14_HUMAN	V	72	ENSP00000382092:A72V;ENSP00000382090:A72V;ENSP00000382087:A72V;ENSP00000382088:A72V;ENSP00000339292:A72V	ENSP00000339292:A72V	A	-	2	0	CLDN14	36755649	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.504000	0.73704	2.584000	0.87258	0.462000	0.41574	GCG		0.632	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1	NM_144492	
YWHAH	7533	broad.mit.edu	37	22	32352631	32352631	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr22:32352631A>G	ENST00000248975.5	+	2	866	c.593A>G	c.(592-594)aAa>aGa	p.K198R	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	198					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CTCTTAGCCAAACAAGCCTTC	0.537																																					Ovarian(98;460 2060 9263 44007)	uc003alz.2																			0				central_nervous_system(1)	1						c.(592-594)AAA>AGA		tyrosine 3-monooxygenase/tryptophan							69.0	54.0	59.0					22																	32352631		2203	4300	6503	SO:0001583	missense	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352631A>G	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.593A>G	22.37:g.32352631A>G	ENSP00000248975:p.Lys198Arg					YWHAH_uc010gwl.2_Missense_Mutation_p.K128R|YWHAH_uc003ama.2_Missense_Mutation_p.K128R|YWHAH_uc010gwm.2_Missense_Mutation_p.K185R	p.K198R	NM_003405	NP_003396	Q04917	1433F_HUMAN			2	834	+			198						Missense_Mutation	SNP	ENST00000248975.5	37	c.593A>G	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553078	0.65425	.	.	ENSG00000128245	ENST00000248975	T	0.51071	0.72	5.95	4.89	0.63831	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.77406	2.37	0.80722	D	1	P;P	0.41546	0.643;0.754	B;B	0.44133	0.425;0.442	T	0.59894	-0.7368	10	0.87932	D	0	-23.9432	12.3441	0.55111	0.8588:0.1412:0.0:0.0	.	198;198	B2R6N6;Q04917	.;1433F_HUMAN	R	198	ENSP00000248975:K198R	ENSP00000248975:K198R	K	+	2	0	YWHAH	30682631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	1.026000	0.39733	0.533000	0.62120	AAA		0.537	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405	
PCYT1A	5130	broad.mit.edu	37	3	195965686	195965686	+	Missense_Mutation	SNP	C	C	T	rs549056100		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr3:195965686C>T	ENST00000292823.2	-	10	1149	c.977G>A	c.(976-978)cGc>cAc	p.R326H	PCYT1A_ENST00000419333.1_Missense_Mutation_p.R326H|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R326H	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	326	3 X repeats.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GGAGCGCTCGCGAGTAGGGCT	0.607																																						uc003fwg.2																			0					0						c.(976-978)CGC>CAC		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)						37.0	39.0	38.0					3																	195965686		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965686C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.977G>A	3.37:g.195965686C>T	ENSP00000292823:p.Arg326His					uc003fwf.1_5'Flank|PCYT1A_uc003fwh.2_Missense_Mutation_p.R326H	p.R326H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	10	1150	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		326			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.977G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	8.529	0.870565	0.17322	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016	.	.	.	6.17	2.43	0.29744	.	0.183322	0.64402	N	0.000010	T	0.54398	0.1856	M	0.66939	2.045	0.37945	D	0.932467	B	0.09022	0.002	B	0.06405	0.002	T	0.49908	-0.8889	9	0.22706	T	0.39	-53.0425	8.698	0.34307	0.0:0.6213:0.0:0.3787	.	326	P49585	PCY1A_HUMAN	H	326;326;287;326	.	ENSP00000292823:R326H	R	-	2	0	PCYT1A	197450083	0.788000	0.28762	0.270000	0.24601	0.311000	0.27955	1.457000	0.35212	0.482000	0.27582	-0.126000	0.14955	CGC		0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
TLR10	81793	broad.mit.edu	37	4	38777038	38777038	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:38777038G>T	ENST00000308973.4	-	4	779	c.174C>A	c.(172-174)aaC>aaA	p.N58K	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.N58K|TLR10_ENST00000508334.1_Missense_Mutation_p.N58K|TLR10_ENST00000506111.1_Missense_Mutation_p.N58K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	58					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAAAAGGAGGTTATAGGATA	0.428																																						uc003gti.2																			0				lung(1)|breast(1)	2						c.(172-174)AAC>AAA		toll-like receptor 10 precursor							77.0	73.0	74.0					4																	38777038		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38777038G>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.174C>A	4.37:g.38777038G>T	ENSP00000308925:p.Asn58Lys					TLR10_uc003gtj.2_Missense_Mutation_p.N58K|TLR10_uc003gtk.2_Missense_Mutation_p.N58K	p.N58K	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	553	-			58			Extracellular (Potential).|LRR 2.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.174C>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846952	0.51164	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334;ENST00000502321	T;T;T;T;T	0.74421	1.35;1.35;1.35;1.35;-0.84	5.14	-0.0112	0.13993	.	0.217764	0.30492	N	0.009516	D	0.85234	0.5650	H	0.96301	3.8	0.40244	D	0.977996	D	0.64830	0.994	D	0.67900	0.954	T	0.80450	-0.1377	10	0.87932	D	0	.	0.7296	0.00955	0.4025:0.1663:0.2623:0.1689	.	58	Q9BXR5	TLR10_HUMAN	K	58;58;58;58;44	ENSP00000308925:N58K;ENSP00000421483:N58K;ENSP00000354459:N58K;ENSP00000424923:N58K;ENSP00000427606:N44K	ENSP00000308925:N58K	N	-	3	2	TLR10	38453433	0.011000	0.17503	0.999000	0.59377	0.982000	0.71751	0.110000	0.15437	0.514000	0.28300	0.591000	0.81541	AAC		0.428	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
PDS5A	23244	broad.mit.edu	37	4	39839671	39839671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:39839671C>T	ENST00000303538.8	-	32	4354	c.3815G>A	c.(3814-3816)cGt>cAt	p.R1272H		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTGGGTCGACGTCCTCTCCT	0.473																																						uc003guv.3																			0					0						c.(3814-3816)CGT>CAT		PDS5, regulator of cohesion maintenance, homolog							117.0	117.0	117.0					4																	39839671		1905	4108	6013	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39839671C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3815G>A	4.37:g.39839671C>T	ENSP00000303427:p.Arg1272His					PDS5A_uc010ifo.2_Missense_Mutation_p.R1232H	p.R1272H	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			32	4355	-			1272						Missense_Mutation	SNP	ENST00000303538.8	37	c.3815G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469624	0.84533	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	N	0.24115	0.695	0.80722	D	1	D	0.58620	0.983	P	0.51582	0.674	T	0.52953	-0.8506	8	.	.	.	-10.1092	19.0327	0.92963	0.0:1.0:0.0:0.0	.	1272	Q29RF7	PDS5A_HUMAN	H	1272	.	.	R	-	2	0	PDS5A	39516066	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.114000	0.64648	2.502000	0.84385	0.655000	0.94253	CGT		0.473	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
DCHS2	54798	broad.mit.edu	37	4	155157533	155157533	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:155157533G>A	ENST00000357232.4	-	25	6905	c.6906C>T	c.(6904-6906)gtC>gtT	p.V2302V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2302	Cadherin 20. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGACACTGACAAACACAA	0.373																																						uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(6904-6906)GTC>GTT		dachsous 2 isoform 1							93.0	88.0	90.0					4																	155157533		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157533G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6906C>T	4.37:g.155157533G>A							p.V2302V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6906	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2302			Cadherin 20.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6906C>T	CCDS3785.1																																																																																				0.373	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
MARCH1	55016	broad.mit.edu	37	4	165118560	165118560	+	Intron	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:165118560T>C	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGTGGCTCTATTGTGCTGAGG	0.428																																						uc011cjk.1																			0					0						c.(304-306)ATA>GTA		acidic nuclear phosphoprotein 32C							146.0	151.0	149.0					4																	165118560		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118560T>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85746A>G	4.37:g.165118560T>C						MARCH1_uc003iqs.1_Intron	p.I102V	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	304	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	102			LRR 3.		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.304A>G	CCDS54814.1																																																																																				0.428	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
PLEKHG4B	153478	broad.mit.edu	37	5	162950	162950	+	Silent	SNP	C	C	T	rs539055948		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:162950C>T	ENST00000283426.6	+	11	1745	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	565							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGCCTTCCCCGGGGCAGGTG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17026	0.0		0.0	False		,,,				2504	0.0					uc003jak.2																			0				skin(2)	2						c.(1693-1695)CCC>CCT		pleckstrin homology domain containing, family G							23.0	25.0	24.0					5																	162950		2188	4286	6474	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162950C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1695C>T	5.37:g.162950C>T							p.P565P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	1745	+			565						Silent	SNP	ENST00000283426.6	37	c.1695C>T	CCDS34124.1																																																																																				0.667	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
KLHL3	26249	broad.mit.edu	37	5	137045486	137045486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:137045486C>T	ENST00000309755.4	-	3	637	c.194G>A	c.(193-195)cGt>cAt	p.R65H	KLHL3_ENST00000508657.1_Missense_Mutation_p.R33H|KLHL3_ENST00000394937.3_Missense_Mutation_p.R65H	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	65	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.R65H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGGACCACACGGTGGGCTTC	0.547																																						uc010jek.2																			1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(193-195)CGT>CAT		kelch-like 3							189.0	149.0	163.0					5																	137045486		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137045486C>T	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.194G>A	5.37:g.137045486C>T	ENSP00000312397:p.Arg65His					MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25H	p.R65H	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	3	638	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	65			BTB.		B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.194G>A	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809242	0.90707	.	.	ENSG00000146021	ENST00000508657;ENST00000309755;ENST00000505853;ENST00000394937	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.35	4.45	0.53987	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.93978	3.48	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.89320	0.3639	10	0.87932	D	0	.	9.3445	0.38100	0.0:0.7777:0.1453:0.077	.	25;65	D6RH21;Q9UH77	.;KLHL3_HUMAN	H	33;65;25;65	ENSP00000422099:R33H;ENSP00000312397:R65H;ENSP00000426173:R25H;ENSP00000378395:R65H	ENSP00000312397:R65H	R	-	2	0	KLHL3	137073385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.491000	0.53252	2.502000	0.84385	0.650000	0.86243	CGT		0.547	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2		
PCDHA4	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140188686C>T	ENST00000530339.1	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.D638D|PCDHA4_ENST00000356878.4_Silent_p.D638D	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	638	Cadherin 6. {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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677																																						uc003lhi.2																			0				ovary(4)|skin(2)	6						c.(1912-1914)GAC>GAT		protocadherin alpha 4 isoform 1 precursor							92.0	92.0	92.0					5																	140188686		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188686C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1914C>T	5.37:g.140188686C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D638D|PCDHA4_uc011daa.1_Silent_p.D638D	p.D638D	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2015	+			638			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1914C>T	CCDS54916.1																																																																																				0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHGA4	56111	broad.mit.edu	37	5	140736994	140736994	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140736994G>A	ENST00000571252.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	743					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGACGGGGT	0.617																																						uc003ljq.1																			0					0						c.(2227-2229)GTG>ATG		protocadherin gamma subfamily A, 4 isoform 1							63.0	67.0	65.0					5																	140736994		2203	4300	6503	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736994G>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2227G>A	5.37:g.140736994G>A	ENSP00000458570:p.Val743Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V743M|PCDHGB2_uc011dar.1_5'Flank	p.V743M	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2227	+			743			Cytoplasmic (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2227G>A	CCDS58979.1																																																																																				0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
SYNGAP1	8831	broad.mit.edu	37	6	33405652	33405652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:33405652C>T	ENST00000418600.2	+	8	1071	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R324W|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R265W|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	324	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCGTGCCCTGCGGCTGCATCT	0.627																																						uc011dri.1																			0				ovary(4)	4						c.(970-972)CGG>TGG		synaptic Ras GTPase activating protein 1							74.0	68.0	70.0					6																	33405652		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33405652C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.970C>T	6.37:g.33405652C>T	ENSP00000403636:p.Arg324Trp					SYNGAP1_uc003oeo.1_Missense_Mutation_p.R309W|SYNGAP1_uc010juy.2_Missense_Mutation_p.R309W|SYNGAP1_uc010juz.2_Missense_Mutation_p.R36W	p.R324W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			8	1165	+			324			C2.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.970C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798119	0.70567	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.70516	-0.49;-0.49;-0.49	4.89	4.02	0.46733	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	L	0.36672	1.1	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.983	T	0.73855	-0.3851	10	0.72032	D	0.01	.	11.1607	0.48514	0.0:0.9106:0.0:0.0894	.	324;324;324;324	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	W	324;324;324;265	ENSP00000293748:R324W;ENSP00000403636:R324W;ENSP00000412475:R265W	ENSP00000293748:R324W	R	+	1	2	SYNGAP1	33513630	0.024000	0.19004	1.000000	0.80357	1.000000	0.99986	1.093000	0.30939	1.285000	0.44548	0.655000	0.94253	CGG		0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:43403588C>T	ENST00000372530.4	+	5	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527W	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTTGGACCGGATCCAGCT	0.567																																						uc003ouy.1																			0				ovary(6)|central_nervous_system(1)	7						c.(1708-1710)CGG>TGG		ATP-binding cassette, sub-family C, member 10							114.0	102.0	106.0					6																	43403588		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403588C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1708C>T	6.37:g.43403588C>T	ENSP00000361608:p.Arg570Trp					ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	p.R570W	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		5	1923	+	all_lung(25;0.00536)		570					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1708C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392994	0.83011	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97279	-4.32;-3.98;-3.98	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.99111	0.9694	H	0.97051	3.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99331	1.0909	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:1.0:0.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	W	126;570;527	ENSP00000361593:R126W;ENSP00000361608:R570W;ENSP00000244533:R527W	ENSP00000244533:R527W	R	+	1	2	ABCC10	43511566	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.776000	0.55356	2.492000	0.84095	0.462000	0.41574	CGG		0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
TFAP2D	83741	broad.mit.edu	37	6	50696975	50696975	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:50696975C>T	ENST00000008391.3	+	5	1061	c.833C>T	c.(832-834)gCa>gTa	p.A278V	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACTTACCAGCAGGAAGACGG	0.423																																						uc003paf.2																			0				ovary(6)|breast(1)	7						c.(832-834)GCA>GTA		transcription factor AP-2 beta-like 1							160.0	141.0	147.0					6																	50696975		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696975C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.833C>T	6.37:g.50696975C>T	ENSP00000008391:p.Ala278Val					TFAP2D_uc011dwt.1_RNA	p.A278V	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			5	1345	+	Lung NSC(77;0.0334)		278						Missense_Mutation	SNP	ENST00000008391.3	37	c.833C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593723	0.96602	.	.	ENSG00000008197	ENST00000008391	D	0.97279	-4.32	6.08	6.08	0.98989	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.93462	3.42	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.99136	1.0854	10	0.87932	D	0	-9.2262	20.6721	0.99693	0.0:1.0:0.0:0.0	.	278	Q7Z6R9	AP2D_HUMAN	V	278	ENSP00000008391:A278V	ENSP00000008391:A278V	A	+	2	0	TFAP2D	50804934	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCA		0.423	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
SIM1	6492	broad.mit.edu	37	6	100901684	100901684	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:100901684C>T	ENST00000369208.3	-	3	994	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SIM1_ENST00000262901.4_Missense_Mutation_p.S71N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	71					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGGGGGCTGGTCCGACT	0.612																																						uc003pqj.3																			0				ovary(4)	4						c.(211-213)AGC>AAC		single-minded homolog 1							79.0	70.0	73.0					6																	100901684		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100901684C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.212G>A	6.37:g.100901684C>T	ENSP00000358210:p.Ser71Asn					SIM1_uc010kcu.2_Missense_Mutation_p.S71N	p.S71N	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	419	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	71					Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.212G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251585	0.59212	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03772	3.81;3.81	5.56	5.56	0.83823	.	0.075935	0.85682	D	0.000000	T	0.01124	0.0037	N	0.05177	-0.1	0.52501	D	0.999956	B	0.17268	0.021	B	0.09377	0.004	T	0.44862	-0.9300	10	0.07175	T	0.84	.	19.5251	0.95201	0.0:1.0:0.0:0.0	.	71	P81133	SIM1_HUMAN	N	71	ENSP00000358210:S71N;ENSP00000262901:S71N	ENSP00000262901:S71N	S	-	2	0	SIM1	101008405	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.693000	0.68264	2.616000	0.88540	0.563000	0.77884	AGC		0.612	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
ZBTB24	9841	broad.mit.edu	37	6	109787239	109787239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:109787239C>T	ENST00000230122.3	-	7	2076	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	637					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V637M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGAGTGATCACGTGCACTGGC	0.458																																						uc003ptl.1																			1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1909-1911)GTG>ATG		zinc finger and BTB domain containing 24 isoform							139.0	131.0	134.0					6																	109787239		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787239C>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1909G>A	6.37:g.109787239C>T	ENSP00000230122:p.Val637Met					MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.V581M|ZBTB24_uc010kdt.1_RNA	p.V637M	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2077	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	637					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1909G>A	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820135	0.50633	.	.	ENSG00000112365	ENST00000230122	T	0.11277	2.79	5.95	4.91	0.64330	.	0.063131	0.64402	D	0.000007	T	0.12689	0.0308	L	0.27053	0.805	0.43334	D	0.995373	D	0.76494	0.999	P	0.62184	0.899	T	0.02070	-1.1219	10	0.87932	D	0	-20.3851	16.0434	0.80701	0.0:0.9256:0.0:0.0743	.	637	O43167	ZBT24_HUMAN	M	637	ENSP00000230122:V637M	ENSP00000230122:V637M	V	-	1	0	ZBTB24	109893932	1.000000	0.71417	0.859000	0.33776	0.556000	0.35491	3.661000	0.54503	2.821000	0.97095	0.650000	0.86243	GTG		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
PARK2	5071	broad.mit.edu	37	6	161771139	161771139	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:161771139C>T	ENST00000366898.1	-	12	1492	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PARK2_ENST00000366896.1_Missense_Mutation_p.D315N|PARK2_ENST00000366897.1_Missense_Mutation_p.D436N|PARK2_ENST00000338468.3_Missense_Mutation_p.D273N|PARK2_ENST00000366894.1_Missense_Mutation_p.D273N	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	464					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTACACGTCGAACCAGTGG	0.592																																						uc003qtx.3																			0				upper_aerodigestive_tract(1)	1						c.(1390-1392)GAC>AAC		parkin isoform 1							39.0	33.0	35.0					6																	161771139		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161771139C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1390G>A	6.37:g.161771139C>T	ENSP00000355865:p.Asp464Asn					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.D273N|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Missense_Mutation_p.D436N|PARK2_uc003qtz.3_Missense_Mutation_p.D315N|PARK2_uc011egf.1_Missense_Mutation_p.D138N	p.D464N	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	12	1524	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	464					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1390G>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092758	0.94149	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.93426	-2.91;-3.07;-3.22;-2.61;-2.61	5.27	5.27	0.74061	.	0.136255	0.48767	D	0.000164	D	0.90587	0.7049	L	0.33485	1.01	0.80722	D	1	D;P;D	0.76494	0.999;0.69;0.976	D;B;P	0.75020	0.985;0.081;0.51	D	0.88028	0.2773	10	0.02654	T	1	.	15.8117	0.78571	0.0:1.0:0.0:0.0	.	315;436;464	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	N	464;436;315;273;273	ENSP00000355865:D464N;ENSP00000355863:D436N;ENSP00000355862:D315N;ENSP00000355860:D273N;ENSP00000343589:D273N	ENSP00000343589:D273N	D	-	1	0	PARK2	161691129	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.476000	0.66793	2.457000	0.83068	0.563000	0.77884	GAC		0.592	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
PMS2	5395	broad.mit.edu	37	7	6027045	6027045	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:6027045T>C	ENST00000265849.7	-	11	1456	c.1351A>G	c.(1351-1353)Agg>Ggg	p.R451G	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R451G|PMS2_ENST00000441476.2_Missense_Mutation_p.R345G	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	451					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCATACCCCTTTTCTGTCCT	0.532			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			0				lung(1)|central_nervous_system(1)	2						c.(1351-1353)AGG>GGG	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							102.0	94.0	96.0					7																	6027045		2203	4300	6503	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6027045T>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1351A>G	7.37:g.6027045T>C	ENSP00000265849:p.Arg451Gly					PMS2_uc003spj.2_Missense_Mutation_p.R345G|PMS2_uc003spk.2_Missense_Mutation_p.R316G|PMS2_uc011jwl.1_Missense_Mutation_p.R316G|PMS2_uc010ktg.2_Missense_Mutation_p.R140G|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.R451G	p.R451G	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	11	1438	-		Ovarian(82;0.0694)	451					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1351A>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	t	9.681	1.149190	0.21288	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.86164	1.02;1.02;-2.08	5.84	3.5	0.40072	.	0.992676	0.08187	N	0.984572	T	0.80711	0.4675	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.63834	-0.6547	10	0.27785	T	0.31	-0.0108	5.9215	0.19084	0.1298:0.1384:0.0:0.7318	.	451;451;345	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	G	451;404;345;451	ENSP00000265849:R451G;ENSP00000392843:R345G;ENSP00000384308:R451G	ENSP00000265849:R451G	R	-	1	2	PMS2	5993571	0.064000	0.20934	0.000000	0.03702	0.010000	0.07245	2.124000	0.42006	0.497000	0.27926	0.529000	0.55759	AGG		0.532	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
MLXIPL	51085	broad.mit.edu	37	7	73010591	73010591	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:73010591C>A	ENST00000313375.3	-	13	1997	c.1950G>T	c.(1948-1950)cgG>cgT	p.R650R	MLXIPL_ENST00000354613.1_Silent_p.R648R|MLXIPL_ENST00000429400.2_Silent_p.R650R|MLXIPL_ENST00000395189.1_Silent_p.R557R|MLXIPL_ENST00000414749.2_Silent_p.R648R|MLXIPL_ENST00000434326.1_Silent_p.R556R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	650	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGTGATACGCCGGTTCTCGG	0.627																																						uc003tyn.1																			0				pancreas(1)	1						c.(1948-1950)CGG>CGT		Williams Beuren syndrome chromosome region 14							91.0	94.0	93.0					7																	73010591		2203	4300	6503	SO:0001819	synonymous_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73010591C>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1950G>T	7.37:g.73010591C>A						MLXIPL_uc003tyj.1_Silent_p.R29R|MLXIPL_uc003tyk.1_Silent_p.R648R|MLXIPL_uc003tyl.1_Silent_p.R648R|MLXIPL_uc003tym.1_Silent_p.R650R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Silent_p.R556R	p.R650R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			13	1998	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	650			Basic motif.		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	ENST00000313375.3	37	c.1950G>T	CCDS5553.1																																																																																				0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951	
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383																																						uc003uhx.2																			0				ovary(7)	7						c.(3718-3720)AAGfs		piccolo isoform 1							241.0	235.0	237.0					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4008	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3E	9723	broad.mit.edu	37	7	83047753	83047753	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:83047753C>T	ENST00000307792.3	-	5	970	c.503G>A	c.(502-504)gGc>gAc	p.G168D	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G108D	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	168	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGACATCTGCCCCTTCCTCT	0.403																																						uc003uhy.1																			0				ovary(3)	3						c.(502-504)GGC>GAC		semaphorin 3E precursor							89.0	78.0	82.0					7																	83047753		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83047753C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.503G>A	7.37:g.83047753C>T	ENSP00000303212:p.Gly168Asp						p.G168D	NM_012431	NP_036563	O15041	SEM3E_HUMAN			5	969	-		Medulloblastoma(109;0.109)	168			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.503G>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680803	0.88542	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.13089	2.62;2.62;2.62	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51301	-0.8723	10	0.66056	D	0.02	.	19.4668	0.94946	0.0:1.0:0.0:0.0	.	168	O15041	SEM3E_HUMAN	D	168;108;168;108	ENSP00000303212:G168D;ENSP00000405052:G108D;ENSP00000412867:G108D	ENSP00000303212:G168D	G	-	2	0	SEMA3E	82885689	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.046000	0.64226	2.669000	0.90835	0.655000	0.94253	GGC		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SLC26A5	375611	broad.mit.edu	37	7	103032068	103032068	+	Splice_Site	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:103032068C>T	ENST00000306312.3	-	11	1495		c.e11+1		SLC26A5_ENST00000354356.4_Splice_Site|SLC26A5_ENST00000393730.1_Splice_Site|SLC26A5_ENST00000393729.1_Splice_Site|SLC26A5_ENST00000393735.2_Splice_Site|SLC26A5_ENST00000432958.2_Splice_Site|SLC26A5_ENST00000393727.1_Splice_Site|SLC26A5_ENST00000393723.1_Splice_Site|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Splice_Site	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5						regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TATGTACATACCTGTGTCTTC	0.438																																						uc003vbz.2																			0				ovary(1)	1						c.e11+1		prestin isoform a							84.0	80.0	82.0					7																	103032068		2203	4300	6503	SO:0001630	splice_region_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103032068C>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1233+1G>A	7.37:g.103032068C>T						SLC26A5_uc003vbt.1_Splice_Site_p.Q411_splice|SLC26A5_uc003vbu.1_Splice_Site_p.Q411_splice|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Splice_Site|SLC26A5_uc003vbx.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vby.2_Splice_Site|SLC26A5_uc010liy.2_Splice_Site	p.Q411_splice	NM_198999	NP_945350	P58743	S26A5_HUMAN			11	1469	-								Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Splice_Site	SNP	ENST00000306312.3	37	c.1233_splice	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981081	0.74474	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4284	0.90617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC26A5	102819304	1.000000	0.71417	0.997000	0.53966	0.691000	0.40173	7.137000	0.77295	2.639000	0.89480	0.650000	0.86243	.		0.438	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	Intron
C7orf66	154907	broad.mit.edu	37	7	108524200	108524200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:108524200C>T	ENST00000379007.2	-	2	266	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	71						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CATCATGTGACGATATTGAGC	0.418																																						uc003vfo.2																			0				ovary(2)	2						c.(211-213)CGT>CAT		hypothetical protein LOC154907							195.0	166.0	176.0					7																	108524200		2203	4300	6503	SO:0001583	missense	154907					integral to membrane		g.chr7:108524200C>T	AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.212G>A	7.37:g.108524200C>T	ENSP00000368292:p.Arg71His						p.R71H	NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN			2	260	-			71						Missense_Mutation	SNP	ENST00000379007.2	37	c.212G>A	CCDS34735.1	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629235	0.14257	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.87	2.98	0.34508	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.08055	0.003	T	0.17228	-1.0376	7	.	.	.	.	9.7267	0.40337	0.0:0.7903:0.2097:0.0	.	71	A4D0T2	CG066_HUMAN	H	71	.	.	R	-	2	0	C7orf66	108311436	0.001000	0.12720	0.122000	0.21767	0.038000	0.13279	0.041000	0.13927	1.184000	0.42957	0.563000	0.77884	CGT		0.418	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1	NM_001024607	
LMBR1	64327	broad.mit.edu	37	7	156518202	156518202	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:156518202G>T	ENST00000353442.5	-	14	1321	c.1085C>A	c.(1084-1086)tCt>tAt	p.S362Y	LMBR1_ENST00000359422.4_Missense_Mutation_p.S210Y|LMBR1_ENST00000540390.1_Missense_Mutation_p.S341Y|LMBR1_ENST00000354505.4_Missense_Mutation_p.S403Y	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	362					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GCCGACAACAGAGGACACCAT	0.413																																						uc003wmw.3																			0					0						c.(1084-1086)TCT>TAT		limb region 1 protein							92.0	95.0	94.0					7																	156518202		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156518202G>T	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.1085C>A	7.37:g.156518202G>T	ENSP00000326604:p.Ser362Tyr					LMBR1_uc003wmv.3_Missense_Mutation_p.S210Y|LMBR1_uc003wmx.3_Missense_Mutation_p.S210Y|LMBR1_uc010lqn.2_Missense_Mutation_p.S403Y|LMBR1_uc011kvx.1_Missense_Mutation_p.S341Y	p.S362Y	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	14	1300	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	362			Cytoplasmic (Potential).		A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.1085C>A	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985203	0.74474	.	.	ENSG00000105983	ENST00000353442;ENST00000316198;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.1	5.1	0.69264	LMBR1-like membrane protein (1);	0.051447	0.85682	D	0.000000	T	0.65863	0.2732	M	0.76838	2.35	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.989	P;D;P	0.70935	0.883;0.971;0.883	T	0.70447	-0.4869	10	0.87932	D	0	-15.0064	17.059	0.86542	0.0:0.0:1.0:0.0	.	341;403;362	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	Y	362;4;210;401;403;341	ENSP00000326604:S362Y;ENSP00000352392:S210Y;ENSP00000408256:S401Y;ENSP00000346500:S403Y;ENSP00000445509:S341Y	ENSP00000326700:S4Y	S	-	2	0	LMBR1	156210963	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.811000	0.91954	2.527000	0.85204	0.467000	0.42956	TCT		0.413	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	NM_022458	
PTPRN2	5799	broad.mit.edu	37	7	157475460	157475460	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:157475460C>T	ENST00000389418.4	-	13	1967	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	PTPRN2_ENST00000389416.4_Missense_Mutation_p.G636E|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G676E|PTPRN2_ENST00000389413.3_Missense_Mutation_p.G624E|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G615E	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	653					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCCCCTAGTCCCGAGAGCTT	0.567																																						uc003wno.2																			0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1957-1959)GGA>GAA		protein tyrosine phosphatase, receptor type, N							100.0	113.0	109.0					7																	157475460		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157475460C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1958G>A	7.37:g.157475460C>T	ENSP00000374069:p.Gly653Glu					PTPRN2_uc003wnp.2_Missense_Mutation_p.G636E|PTPRN2_uc003wnq.2_Missense_Mutation_p.G624E|PTPRN2_uc003wnr.2_Missense_Mutation_p.G615E|PTPRN2_uc011kwa.1_Missense_Mutation_p.G676E	p.G653E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	13	2079	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	653			Cytoplasmic (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1958G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652560	0.29336	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03152	4.05;4.1;4.04;4.04;4.03	4.58	3.67	0.42095	.	0.215051	0.28589	N	0.014815	T	0.08537	0.0212	L	0.48877	1.53	0.40124	D	0.976639	B;B;B;D;B	0.63880	0.365;0.129;0.365;0.993;0.129	B;B;B;P;B	0.53954	0.3;0.075;0.3;0.738;0.048	T	0.15350	-1.0440	10	0.52906	T	0.07	.	13.1347	0.59403	0.0:0.6771:0.3229:0.0	.	676;615;624;636;653	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	E	615;624;636;653;676	ENSP00000387114:G615E;ENSP00000374064:G624E;ENSP00000374067:G636E;ENSP00000374069:G653E;ENSP00000385464:G676E	ENSP00000374064:G624E	G	-	2	0	PTPRN2	157168221	0.149000	0.22717	0.194000	0.23346	0.622000	0.37654	1.385000	0.34408	2.068000	0.61886	0.655000	0.94253	GGA		0.567	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
PRSS55	203074	broad.mit.edu	37	8	10396129	10396129	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:10396129C>T	ENST00000328655.3	+	5	925	c.885C>T	c.(883-885)atC>atT	p.I295I	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	295	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.I295I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACCTCTGGATCGAGAAAGTGA	0.532																																						uc003wta.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(883-885)ATC>ATT		hypothetical protein LOC203074 precursor							106.0	112.0	110.0					8																	10396129		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10396129C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.885C>T	8.37:g.10396129C>T						uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron	p.I295I	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			5	900	+			295			Extracellular (Potential).|Peptidase S1.		E5RJX5	Silent	SNP	ENST00000328655.3	37	c.885C>T	CCDS5976.1																																																																																				0.532	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
CPA6	57094	broad.mit.edu	37	8	68396059	68396059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:68396059G>A	ENST00000297770.4	-	8	997	c.782C>T	c.(781-783)tCa>tTa	p.S261L	CPA6_ENST00000518549.1_Missense_Mutation_p.S261L|CPA6_ENST00000297769.4_Missense_Mutation_p.S113L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	261						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCGAAACCTTGAGTTCCTTGA	0.408																																						uc003xxq.3																			0				ovary(2)	2						c.(781-783)TCA>TTA		carboxypeptidase A6 isoform 1 precursor							191.0	171.0	178.0					8																	68396059		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68396059G>A	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.782C>T	8.37:g.68396059G>A	ENSP00000297770:p.Ser261Leu					CPA6_uc003xxr.3_Missense_Mutation_p.S113L|CPA6_uc003xxs.2_Missense_Mutation_p.S261L	p.S261L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		8	1038	-			261					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.782C>T	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865406	0.51588	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.11063	2.81;2.81;2.81	4.97	4.97	0.65823	Peptidase M14, carboxypeptidase A (2);	0.210965	0.41194	D	0.000922	T	0.14184	0.0343	L	0.49256	1.55	0.39514	D	0.968402	P;P;B	0.39737	0.685;0.458;0.057	B;B;B	0.38264	0.269;0.086;0.077	T	0.02868	-1.1100	10	0.62326	D	0.03	.	17.3782	0.87398	0.0:0.0:1.0:0.0	.	261;113;261	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	L	113;261;261	ENSP00000297769:S113L;ENSP00000297770:S261L;ENSP00000431112:S261L	ENSP00000297769:S113L	S	-	2	0	CPA6	68558613	1.000000	0.71417	0.810000	0.32431	0.900000	0.52787	4.504000	0.60414	2.457000	0.83068	0.643000	0.83706	TCA		0.408	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:125131850G>A	ENST00000522917.1	+	41	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1798H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1798						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473																																						uc003yqw.2																			0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(5392-5394)CGC>CAC		fer-1-like 6							150.0	149.0	149.0					8																	125131850		1922	4125	6047	SO:0001583	missense	654463					integral to membrane		g.chr8:125131850G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5393G>A	8.37:g.125131850G>A	ENSP00000428280:p.Arg1798His					uc003yqy.1_Intron	p.R1798H	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5599	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1798			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.5393G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521546	0.96416	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86562	-2.14;-2.14	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	D	0.95576	0.8562	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95455	0.8538	10	0.87932	D	0	-21.24	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1798	Q2WGJ9	FR1L6_HUMAN	H	1798	ENSP00000428280:R1798H;ENSP00000381982:R1798H	ENSP00000381982:R1798H	R	+	2	0	FER1L6	125201031	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
TG	7038	broad.mit.edu	37	8	133879248	133879248	+	Start_Codon_SNP	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:133879248G>A	ENST00000220616.4	+	1	43	c.3G>A	c.(1-3)atG>atA	p.M1I	TG_ENST00000377869.1_Start_Codon_SNP_p.M1I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGGAAAATGGCCCTGGTCC	0.592																																						uc003ytw.2																			0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1-3)ATG>ATA		thyroglobulin precursor							36.0	28.0	31.0					8																	133879248		2203	4300	6503	SO:0001582	initiator_codon_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133879248G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3G>A	8.37:g.133879248G>A	ENSP00000220616:p.Met1Ile						p.M1I	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	44	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842598	0.71488	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.63417	-0.04;-0.04	4.28	3.31	0.37934	.	0.411559	0.23314	N	0.049534	T	0.52191	0.1719	.	.	.	0.80722	D	1	B	0.25667	0.131	B	0.22386	0.039	T	0.59026	-0.7531	9	0.87932	D	0	.	11.2607	0.49080	0.0:0.1862:0.8138:0.0	.	1	P01266	THYG_HUMAN	I	1	ENSP00000367100:M1I;ENSP00000220616:M1I	ENSP00000220616:M1I	M	+	3	0	TG	133948430	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	3.029000	0.49712	2.332000	0.79248	0.462000	0.41574	ATG		0.592	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Missense_Mutation
PTPDC1	138639	broad.mit.edu	37	9	96860365	96860365	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:96860365C>A	ENST00000375360.3	+	7	1695	c.1355C>A	c.(1354-1356)aCa>aAa	p.T452K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.T504K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	452					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTCGCAGCACACTTTCTTTC	0.483																																						uc004auf.1																			0				ovary(1)	1						c.(1354-1356)ACA>AAA		protein tyrosine phosphatase domain containing 1							71.0	63.0	66.0					9																	96860365		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860365C>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1355C>A	9.37:g.96860365C>A	ENSP00000364509:p.Thr452Lys					PTPDC1_uc004aug.1_Missense_Mutation_p.T452K|PTPDC1_uc004auh.1_Missense_Mutation_p.T504K|PTPDC1_uc010mrj.1_Missense_Mutation_p.T506K|PTPDC1_uc010mri.1_Missense_Mutation_p.T504K	p.T452K	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			7	1695	+			452					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1355C>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190213	0.58017	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.15139	2.46;2.45	5.91	5.01	0.66863	.	0.297857	0.39544	N	0.001323	T	0.28466	0.0704	M	0.66939	2.045	0.21147	N	0.999772	P;P;P;P	0.51653	0.947;0.943;0.947;0.905	B;P;B;B	0.49012	0.394;0.598;0.394;0.394	T	0.12293	-1.0553	10	0.48119	T	0.1	-3.6198	14.3652	0.66801	0.0:0.9294:0.0:0.0706	.	506;504;506;452	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	K	452;504	ENSP00000364509:T452K;ENSP00000288976:T504K	ENSP00000288976:T504K	T	+	2	0	PTPDC1	95900186	0.997000	0.39634	0.008000	0.14137	0.990000	0.78478	3.954000	0.56708	1.500000	0.48636	0.655000	0.94253	ACA		0.483	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:130952718A>G	ENST00000393608.1	-	3	378	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	59					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582																																						uc004btt.2																			0				ovary(2)|central_nervous_system(2)	4						c.(175-177)CTC>CCC		CDKN1A interacting zinc finger protein 1 isoform							25.0	24.0	25.0					9																	130952718		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130952718A>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.176T>C	9.37:g.130952718A>G	ENSP00000377232:p.Leu59Pro					CIZ1_uc004btr.2_Missense_Mutation_p.L59P|CIZ1_uc004bts.2_Missense_Mutation_p.L59P|CIZ1_uc011maq.1_Missense_Mutation_p.L59P|CIZ1_uc004btu.2_Missense_Mutation_p.L59P|CIZ1_uc011mar.1_Intron|CIZ1_uc011mas.1_Missense_Mutation_p.L89P|CIZ1_uc004btw.2_Missense_Mutation_p.L59P|CIZ1_uc004btv.2_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P	p.L59P	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			3	339	-			59					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.176T>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300687	0.40694	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.31	4.31	0.51392	.	0.401761	0.18500	N	0.139371	D	0.82893	0.5136	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.91635	0.986;0.999;0.976;0.999;0.999;0.998;0.943;0.999	D	0.83844	0.0259	10	0.87932	D	0	-23.1311	10.9807	0.47492	1.0:0.0:0.0:0.0	.	59;59;59;59;59;59;59;59	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	59;59;59;59;59;26;59;59;59;59;10;59;59	ENSP00000362045:L59P;ENSP00000377232:L59P;ENSP00000439244:L59P;ENSP00000350169:L59P;ENSP00000320374:L59P;ENSP00000277465:L59P;ENSP00000362039:L59P;ENSP00000362029:L59P;ENSP00000398011:L10P;ENSP00000321780:L59P;ENSP00000407265:L59P	ENSP00000277465:L59P	L	-	2	0	CIZ1	129992539	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	4.437000	0.59955	1.823000	0.53134	0.533000	0.62120	CTC		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
TUBBP5	643224	broad.mit.edu	37	9	141070064	141070064	+	RNA	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:141070064G>A	ENST00000503395.1	+	0	1144									tubulin, beta pseudogene 5																		TGGCAGGTACGTGCCCCGCGC	0.716																																						uc004com.2																			0					0						c.(-40--36)ACGTG>ACATG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141070064G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070064G>A						TUBBP5_uc010ncq.2_Missense_Mutation_p.V102M								3	223	+									Translation_Start_Site	SNP	ENST00000503395.1	37	c.-38G>A																																																																																					0.716	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
FRMPD4	9758	broad.mit.edu	37	X	12516825	12516825	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:12516825C>T	ENST00000380682.1	+	2	574	c.68C>T	c.(67-69)cCg>cTg	p.P23L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	23					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGGCTGGCCGCCTCCCTCG	0.512																																						uc004cuz.1																			0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(67-69)CCG>CTG		FERM and PDZ domain containing 4							50.0	51.0	51.0					X																	12516825		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12516825C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.68C>T	X.37:g.12516825C>T	ENSP00000370057:p.Pro23Leu					FRMPD4_uc011mij.1_Missense_Mutation_p.P15L	p.P23L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			2	574	+			23					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.68C>T	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550999	0.45383	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05786	3.39	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000003	T	0.09818	0.0241	N	0.10945	0.07	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.17684	-1.0361	10	0.02654	T	1	.	18.0731	0.89417	0.0:1.0:0.0:0.0	.	15;23	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	L	23;14;12	ENSP00000370057:P23L	ENSP00000304583:P12L	P	+	2	0	FRMPD4	12426746	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.680000	0.74518	2.292000	0.77174	0.600000	0.82982	CCG		0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
CDKL5	6792	broad.mit.edu	37	X	18622187	18622187	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:18622187C>A	ENST00000379989.3	+	13	1428	c.1143C>A	c.(1141-1143)acC>acA	p.T381T	CDKL5_ENST00000379996.3_Silent_p.T381T|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	381					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTGCACACCAAAACCTACC	0.507																																						uc004cym.2																			0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(1141-1143)ACC>ACA		cyclin-dependent kinase-like 5							156.0	149.0	152.0					X																	18622187		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622187C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1143C>A	X.37:g.18622187C>A						CDKL5_uc004cyn.2_Silent_p.T381T	p.T381T	NM_003159	NP_003150	O76039	CDKL5_HUMAN			12	1396	+	Hepatocellular(33;0.183)		381					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.1143C>A	CCDS14186.1																																																																																				0.507	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
SYP	6855	broad.mit.edu	37	X	49048188	49048188	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49048188G>A	ENST00000263233.4	-	6	720	c.648C>T	c.(646-648)gtC>gtT	p.V216V	SYP_ENST00000479808.1_Silent_p.V216V|SYP_ENST00000538567.1_Silent_p.V98V	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	216	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACAGGTTGCCGACCCAGAGCA	0.677																																						uc004dmz.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(646-648)GTC>GTT		synaptophysin							8.0	9.0	9.0					X																	49048188		1859	3781	5640	SO:0001819	synonymous_variant	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49048188G>A	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.648C>T	X.37:g.49048188G>A						SYP_uc011mmz.1_Silent_p.V98V|SYP_uc004dna.1_Silent_p.V210V	p.V216V	NM_003179	NP_003170	P08247	SYPH_HUMAN			6	664	-		all_lung(315;0.00016)	216			Helical; (Potential).|MARVEL.		B2R7L6|B7Z359|Q6P2F7	Silent	SNP	ENST00000263233.4	37	c.648C>T	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700908	0.30142	.	.	ENSG00000102003	ENST00000472598	.	.	.	5.5	0.465	0.16711	.	.	.	.	.	T	0.51770	0.1694	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	-27.5924	6.1082	0.20086	0.3437:0.4494:0.2069:0.0	.	.	.	.	L	106	.	.	S	-	2	0	SYP	48935132	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-1.307000	0.02733	0.239000	0.21243	0.600000	0.82982	TCG		0.677	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179	
FOXP3	50943	broad.mit.edu	37	X	49112252	49112252	+	Missense_Mutation	SNP	G	G	A	rs2232369		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49112252G>A	ENST00000376207.4	-	7	846	c.659C>T	c.(658-660)gCg>gTg	p.A220V	FOXP3_ENST00000455775.2_Missense_Mutation_p.A220V|FOXP3_ENST00000518685.1_Missense_Mutation_p.A185V|FOXP3_ENST00000376197.1_Missense_Mutation_p.A170V|FOXP3_ENST00000376199.2_Missense_Mutation_p.A185V|FOXP3_ENST00000557224.1_Missense_Mutation_p.A185V	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	220					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AAGATGGTCCGCCTGGCAGTG	0.587																																					GBM(182;1432 2112 16160 23073 31774)	uc004dnf.3																			0					0						c.(658-660)GCG>GTG		forkhead box P3 isoform a							100.0	67.0	78.0					X																	49112252		2203	4300	6503	SO:0001583	missense	50943				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding	g.chrX:49112252G>A		CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.659C>T	X.37:g.49112252G>A	ENSP00000365380:p.Ala220Val					FOXP3_uc011mnb.1_Missense_Mutation_p.A243V|FOXP3_uc011mnc.1_Missense_Mutation_p.A220V|FOXP3_uc004dne.3_Missense_Mutation_p.A185V|FOXP3_uc010niq.1_Missense_Mutation_p.A185V	p.A220V	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN			7	847	-	Ovarian(276;0.236)		220			C2H2-type.		A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	ENST00000376207.4	37	c.659C>T	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	G	4.023	0.001646	0.07819	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	4.79	0.212	0.15240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.423005	0.20551	N	0.090104	T	0.71617	0.3361	L	0.38531	1.155	0.09310	N	1	B;B;B;B;B	0.22211	0.004;0.002;0.066;0.004;0.007	B;B;B;B;B	0.13407	0.001;0.002;0.009;0.001;0.003	T	0.59091	-0.7519	10	0.49607	T	0.09	.	1.6527	0.02775	0.1876:0.1221:0.4146:0.2758	rs2232369;rs2232369	220;243;185;220;185	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	V	220;185;185;185;170;220	ENSP00000365380:A220V;ENSP00000365372:A185V;ENSP00000451208:A185V;ENSP00000428952:A185V;ENSP00000365369:A170V;ENSP00000396415:A220V	ENSP00000365369:A170V	A	-	2	0	FOXP3	48999196	0.015000	0.18098	0.444000	0.26895	0.117000	0.20001	0.790000	0.26900	-0.009000	0.14296	-0.313000	0.08912	GCG		0.587	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	NM_014009	
ITIH6	347365	broad.mit.edu	37	X	54777784	54777784	+	Missense_Mutation	SNP	C	C	T	rs146825535		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:54777784C>T	ENST00000218436.6	-	12	3411	c.3382G>A	c.(3382-3384)Gca>Aca	p.A1128T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1128					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTGGTGGTGCGCCAAGCAGC	0.592																																						uc004dtj.2																			0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3382-3384)GCA>ACA		inter-alpha (globulin) inhibitor H5-like		C	THR/ALA	2,3833		0,2,1630,571	55.0	47.0	50.0		3382	2.7	1.0	X	dbSNP_134	50	0,6728		0,0,2428,1872	no	missense	ITIH5L	NM_198510.2	58	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging	1128/1314	54777784	2,10561	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54777784C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3382G>A	X.37:g.54777784C>T	ENSP00000218436:p.Ala1128Thr						p.A1128T	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			12	3412	-			1128					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3382G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587121	0.66105	5.22E-4	0.0	ENSG00000102313	ENST00000218436	T	0.13089	2.62	3.58	2.68	0.31781	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.741838	0.11894	N	0.519326	T	0.14270	0.0345	M	0.64404	1.975	0.26138	N	0.980317	P	0.45902	0.868	B	0.37091	0.241	T	0.11324	-1.0592	10	0.59425	D	0.04	.	8.9274	0.35650	0.0:0.8744:0.0:0.1256	.	1128	Q6UXX5	ITH5L_HUMAN	T	1128	ENSP00000218436:A1128T	ENSP00000218436:A1128T	A	-	1	0	ITIH5L	54794509	0.989000	0.36119	0.964000	0.40570	0.763000	0.43281	2.912000	0.48782	0.341000	0.23771	0.287000	0.19450	GCA		0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
TEX11	56159	broad.mit.edu	37	X	69825267	69825267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:69825267G>T	ENST00000395889.2	-	25	2251	c.2096C>A	c.(2095-2097)tCa>tAa	p.S699*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.S684*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.S374*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.S699*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	699					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAAGCTGTTGAAGCTTTTCT	0.388																																						uc004dyl.2																			0				ovary(3)|breast(1)|skin(1)	5						c.(2095-2097)TCA>TAA		testis expressed sequence 11 isoform 1							123.0	104.0	111.0					X																	69825267		2203	4300	6503	SO:0001587	stop_gained	56159						protein binding	g.chrX:69825267G>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2096C>A	X.37:g.69825267G>T	ENSP00000379226:p.Ser699*					TEX11_uc004dyk.2_Nonsense_Mutation_p.S374*|TEX11_uc004dym.2_Nonsense_Mutation_p.S684*	p.S699*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			25	2258	-	Renal(35;0.156)		699					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.2096C>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	38	6.860414	0.97893	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	4.83	3.06	0.35304	.	0.746071	0.12355	N	0.476157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	6.5366	0.22357	0.2232:0.0:0.7768:0.0	.	.	.	.	X	684;699;374;699	.	.	S	-	2	0	TEX11	69741992	0.994000	0.37717	0.810000	0.32431	0.989000	0.77384	2.652000	0.46682	0.473000	0.27368	0.544000	0.68410	TCA		0.388	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
IL9R	3581	broad.mit.edu	37	X	155239824	155239824	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:155239824A>G	ENST00000244174.5	+	9	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_ENST00000424344.3_Missense_Mutation_p.N418S|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	439	Poly-Asn.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					agcagcagcaacaacaacaAC	0.642													a|||	711	0.141973	0.0825	0.085	5008	,	,		13060	0.0883		0.1491	False		,,,				2504	0.3108					uc004fnv.1																			1	Substitution - Missense(1)		kidney(1)		0						c.(1315-1317)AAC>AGC		interleukin 9 receptor precursor							7.0	14.0	12.0					X																	155239824		2081	4221	6302	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239824A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1316A>G	X.37:g.155239824A>G	ENSP00000244174:p.Asn439Ser					IL9R_uc004fnu.1_3'UTR	p.N439S	NM_002186	NP_002177	Q01113	IL9R_HUMAN			9	1495	+	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)		439			Poly-Asn.|Cytoplasmic (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1316A>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	a	1.685	-0.505533	0.04261	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10192	2.9;2.9	.	.	.	.	3.894160	0.00911	N	0.002464	T	0.04634	0.0126	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27054	-1.0085	5	0.18710	T	0.47	.	.	.	.	.	439	Q01113	IL9R_HUMAN	S	439;418	ENSP00000244174:N439S;ENSP00000388918:N418S	ENSP00000244174:N439S	N	+	2	0	IL9R	154893018	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	-1.580000	0.02121	-1.735000	0.01353	-1.704000	0.00719	AAC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	
