#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	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	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	227	0	0	0	1	0	5	227				
RSPH14	27156	broad.mit.edu	37	22	23401715	23401715	+	Silent	SNP	G	G	A	rs149525500	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr22:23401715G>A	ENST00000216036.4	-	7	1168	c.972C>T	c.(970-972)taC>taT	p.Y324Y		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		324								p.Y324Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GAGGCTTTTCGTAAGTCTCCA	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17843	0.0		0.001	False		,,,				2504	0.0					ENST00000216036.4																			1	Substitution - coding silent(1)	p.Y324Y(1)	ovary(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(970-972)taC>taT		rhabdoid tumor deletion region gene 1		G		1,4405	2.1+/-5.4	0,1,2202	109.0	104.0	106.0		972	-0.5	0.0	22	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	RTDR1	NM_014433.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		324/349	23401715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23401715G>A																												ENST00000216036.4:c.972C>T	22.37:g.23401715G>A							p.Y324Y	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1168	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		324						Silent	SNP	ENST00000216036.4	37	c.972C>T	CCDS13803.1																																																																																				0.607	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			97	117	0	0	0	1	0	97	117				
ANKS3	124401	broad.mit.edu	37	16	4764124	4764124	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:4764124C>T	ENST00000304283.4	-	7	931	c.637G>A	c.(637-639)Gga>Aga	p.G213R	ANKS3_ENST00000585773.1_Missense_Mutation_p.G140R|ANKS3_ENST00000446014.2_Missense_Mutation_p.G84R|ANKS3_ENST00000450067.2_Missense_Mutation_p.G7R	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	213										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATGTGTCCGTACTGCTTG	0.622																																						ENST00000304283.4																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(637-639)Gga>Aga		ankyrin repeat and sterile alpha motif domain containing 3							180.0	131.0	148.0					16																	4764124		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4764124C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.637G>A	16.37:g.4764124C>T	ENSP00000304586:p.Gly213Arg					ANKS3_ENST00000450067.2_Missense_Mutation_p.G7R|ANKS3_ENST00000446014.2_Missense_Mutation_p.G84R|ANKS3_ENST00000585773.1_Missense_Mutation_p.G140R	p.G213R	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN			7	931	-			213					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.637G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521477	0.85600	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.59364	0.33;0.98;0.27	4.89	4.89	0.63831	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.74258	2.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78041	-0.2359	10	0.72032	D	0.01	-0.2247	14.8953	0.70639	0.0:1.0:0.0:0.0	.	7;213	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	R	213;84;7	ENSP00000304586:G213R;ENSP00000406796:G84R;ENSP00000388270:G7R	ENSP00000304586:G213R	G	-	1	0	ANKS3	4704125	0.977000	0.34250	0.998000	0.56505	0.992000	0.81027	2.744000	0.47450	2.553000	0.86117	0.561000	0.74099	GGA		0.622	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		6	137	0	0	0	1	0	6	137				
DCUN1D5	84259	broad.mit.edu	37	11	102954040	102954040	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:102954040A>C	ENST00000260247.5	-	3	536	c.194T>G	c.(193-195)gTa>gGa	p.V65G	DCUN1D5_ENST00000531543.1_Intron	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	65	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TTCTGGCCCTACAACTTCATC	0.323																																						ENST00000260247.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)	4						c.(193-195)gTa>gGa		DCN1, defective in cullin neddylation 1, domain containing 5							56.0	55.0	55.0					11																	102954040		2201	4294	6495	SO:0001583	missense	84259							g.chr11:102954040A>C		CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.194T>G	11.37:g.102954040A>C	ENSP00000260247:p.Val65Gly					DCUN1D5_ENST00000531543.1_Intron	p.V65G	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)	3	536	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	65			DCUN1.		Q3ZTT2	Missense_Mutation	SNP	ENST00000260247.5	37	c.194T>G	CCDS8325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.24|17.24	3.340493|3.340493	0.60963|0.60963	.|.	.|.	ENSG00000137692|ENSG00000137692	ENST00000527260|ENST00000260247	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Domain of unknown function DUF298 (1);	.|0.061565	.|0.64402	.|D	.|0.000006	T|T	0.63367|0.63367	0.2505|0.2505	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P	.|0.37370	.|0.592	.|B	.|0.39562	.|0.303	T|T	0.67787|0.67787	-0.5580|-0.5580	5|9	.|0.87932	.|D	.|0	-17.6747|-17.6747	16.0141|16.0141	0.80425|0.80425	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|65	.|Q9BTE7	.|DCNL5_HUMAN	W|G	36|65	.|.	.|ENSP00000260247:V65G	C|V	-|-	3|2	2|0	DCUN1D5|DCUN1D5	102459250|102459250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.925000|8.925000	0.92832|0.92832	2.187000|2.187000	0.69744|0.69744	0.528000|0.528000	0.53228|0.53228	TGT|GTA		0.323	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386382.2	NM_032299		3	35	0	0	0	1	0	3	35				
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(577-579)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							95.0	85.0	88.0					17																	7578272		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578272G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron	p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	709	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.577C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	34	0	0	0	1	0	33	34				
AGRN	375790	broad.mit.edu	37	1	985004	985004	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:985004G>A	ENST00000379370.2	+	26	4623	c.4573G>A	c.(4573-4575)Gtc>Atc	p.V1525I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1525	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TTTGCTGGACGTCAACAACCA	0.721																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(4573-4575)Gtc>Atc		agrin							13.0	17.0	16.0					1																	985004		2181	4277	6458	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985004G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4573G>A	1.37:g.985004G>A	ENSP00000368678:p.Val1525Ile						p.V1525I	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	26	4623	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1525			Laminin G-like 1.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.4573G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	g	2.935	-0.220161	0.06061	.	.	ENSG00000188157	ENST00000379370	T	0.75589	-0.95	4.51	-4.93	0.03066	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.200269	0.30686	N	0.009081	T	0.46600	0.1401	N	0.16233	0.39	0.42141	D	0.991512	B	0.30605	0.287	B	0.23574	0.047	T	0.49437	-0.8940	10	0.05525	T	0.97	-12.1061	13.6964	0.62582	0.2037:0.0:0.7963:0.0	.	1525	O00468	AGRIN_HUMAN	I	1525	ENSP00000368678:V1525I	ENSP00000368678:V1525I	V	+	1	0	AGRN	974867	0.990000	0.36364	0.206000	0.23566	0.019000	0.09904	2.324000	0.43831	-0.951000	0.03654	-0.696000	0.03686	GTC		0.721	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		3	12	0	0	0	1	0	3	12				
SLC18A3	6572	broad.mit.edu	37	10	50819554	50819554	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr10:50819554G>A	ENST00000374115.3	+	1	1208	c.768G>A	c.(766-768)gcG>gcA	p.A256A	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	256					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCTTTGACGCGCTGTTGCTGC	0.662																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(766-768)gcG>gcA		solute carrier family 18 (vesicular acetylcholine transporter), member 3							30.0	29.0	29.0					10																	50819554		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819554G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.768G>A	10.37:g.50819554G>A						CHAT_ENST00000339797.1_Intron	p.A256A	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1208	+			256					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.768G>A	CCDS7231.1																																																																																				0.662	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		12	40	0	0	0	1	0	12	40				
ELAVL2	1993	broad.mit.edu	37	9	23701496	23701496	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:23701496G>A	ENST00000397312.2	-	5	868	c.594C>T	c.(592-594)atC>atT	p.I198I	ELAVL2_ENST00000380117.1_Silent_p.I198I|ELAVL2_ENST00000380110.4_Silent_p.I227I|ELAVL2_ENST00000544538.1_Silent_p.I198I|ELAVL2_ENST00000223951.6_Silent_p.I198I	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	198	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACTTTACAGTGATTGGCTCCG	0.488																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(592-594)atC>atT		ELAV like neuron-specific RNA binding protein 2							263.0	267.0	266.0					9																	23701496		2203	4300	6503	SO:0001819	synonymous_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701496G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.594C>T	9.37:g.23701496G>A						ELAVL2_ENST00000380117.1_Silent_p.I198I|ELAVL2_ENST00000380110.4_Silent_p.I227I|ELAVL2_ENST00000223951.6_Silent_p.I198I|ELAVL2_ENST00000544538.1_Silent_p.I198I	p.I198I	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	868	-			198			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	c.594C>T	CCDS6515.1																																																																																				0.488	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		41	141	0	0	0	1	0	41	141				
IFT140	9742	broad.mit.edu	37	16	1608001	1608001	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:1608001G>A	ENST00000426508.2	-	19	2697	c.2334C>T	c.(2332-2334)caC>caT	p.H778H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	778					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGAAGCTGAAGTGGAGCATGG	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2332-2334)caC>caT		intraflagellar transport 140 homolog (Chlamydomonas)							189.0	178.0	181.0					16																	1608001		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1608001G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2334C>T	16.37:g.1608001G>A						IFT140_ENST00000439987.2_5'UTR	p.H778H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			19	2697	-		Hepatocellular(780;0.219)	778					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.2334C>T	CCDS10439.1																																																																																				0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		35	153	0	0	0	1	0	35	153				
TJAP1	93643	broad.mit.edu	37	6	43469298	43469298	+	Missense_Mutation	SNP	C	C	T	rs149220687		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr6:43469298C>T	ENST00000372445.5	+	6	539	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	TJAP1_ENST00000436109.2_Missense_Mutation_p.R55C|TJAP1_ENST00000372444.2_Missense_Mutation_p.R55C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R55C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R55C|TJAP1_ENST00000438588.2_Missense_Mutation_p.R55C|TJAP1_ENST00000259751.1_Missense_Mutation_p.R55C|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	55					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTTCGCCGGCGCCTGGCCTC	0.632																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(163-165)Cgc>Tgc		tight junction associated protein 1 (peripheral)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	39.0	43.0	41.0		163,163,163,163,163,163	3.3	0.9	6	dbSNP_134	41	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense	TJAP1	NM_001146016.1,NM_001146017.1,NM_001146018.1,NM_001146019.1,NM_001146020.1,NM_080604.2	180,180,180,180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	55/558,55/558,55/548,55/548,55/548,55/548	43469298	2,13004	2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43469298C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.163C>T	6.37:g.43469298C>T	ENSP00000361522:p.Arg55Cys					TJAP1_ENST00000438588.2_Missense_Mutation_p.R55C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R55C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R55C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.R55C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R55C|TJAP1_ENST00000259751.1_Missense_Mutation_p.R55C	p.R55C	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		7	596	+	all_lung(25;0.00536)		55					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.163C>T	CCDS55004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.571326|3.571326	0.65765|0.65765	0.0|0.0	2.33E-4|2.33E-4	ENSG00000137221|ENSG00000137221	ENST00000454762|ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.|T;T;T;T;T;T;T;T	.|0.26373	.|1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.22|5.22	3.3|3.3	0.37823|0.37823	.|.	.|0.221915	.|0.40144	.|N	.|0.001167	T|T	0.38348|0.38348	0.1037|0.1037	M|M	0.77313|0.77313	2.365|2.365	0.50467|0.50467	D|D	0.999877|0.999877	.|D;D;B	.|0.89917	.|1.0;1.0;0.032	.|D;D;B	.|0.85130	.|0.997;0.997;0.014	T|T	0.34900|0.34900	-0.9810|-0.9810	5|10	.|0.62326	.|D	.|0.03	-51.4235|-51.4235	10.1791|10.1791	0.42957|0.42957	0.1538:0.6981:0.1481:0.0|0.1538:0.6981:0.1481:0.0	.|.	.|55;55;55	.|E2QRK7;Q5JTD0;Q5JTD0-2	.|.;TJAP1_HUMAN;.	V|C	12|55	.|ENSP00000361521:R55C;ENSP00000361522:R55C;ENSP00000407080:R55C;ENSP00000390981:R55C;ENSP00000259751:R55C;ENSP00000361530:R55C;ENSP00000361527:R55C;ENSP00000408769:R55C	.|ENSP00000259751:R55C	A|R	+|+	2|1	0|0	TJAP1|TJAP1	43577276|43577276	0.993000|0.993000	0.37304|0.37304	0.944000|0.944000	0.38274|0.38274	0.963000|0.963000	0.63663|0.63663	3.065000|3.065000	0.49994|0.49994	1.202000|1.202000	0.43218|0.43218	-0.535000|-0.535000	0.04281|0.04281	GCG|CGC		0.632	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		14	75	0	0	0	1	0	14	75				
PTCHD2	57540	broad.mit.edu	37	1	11575545	11575545	+	Missense_Mutation	SNP	G	G	A	rs376513197		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:11575545G>A	ENST00000294484.6	+	5	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	525	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1573-1575)Gtg>Atg		patched domain containing 2		G	MET/VAL	0,4258		0,0,2129	152.0	145.0	147.0		1573	5.8	1.0	1		147	1,8499		0,1,4249	no	missense	PTCHD2	NM_020780.1	21	0,1,6378	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	525/1393	11575545	1,12757	2129	4250	6379	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11575545G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1573G>A	1.37:g.11575545G>A	ENSP00000294484:p.Val525Met					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	5	1711	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	525			SSD.		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1573G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234943	0.79800	0.0	1.18E-4	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85629	-2.01;-2.01	5.79	5.79	0.91817	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91648	0.5332	10	0.87932	D	0	-28.0638	19.0281	0.92941	0.0:0.0:1.0:0.0	.	525	Q9P2K9	PTHD2_HUMAN	M	525	ENSP00000294484:V525M;ENSP00000374226:V525M	ENSP00000294484:V525M	V	+	1	0	PTCHD2	11498132	1.000000	0.71417	0.966000	0.40874	0.513000	0.34164	9.706000	0.98722	2.733000	0.93635	0.655000	0.94253	GTG		0.587	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		15	72	0	0	0	1	0	15	72				
RAPH1	65059	broad.mit.edu	37	2	204306114	204306114	+	Missense_Mutation	SNP	C	C	T	rs76891512		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:204306114C>T	ENST00000319170.5	-	14	2098	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Missense_Mutation_p.R652Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	600					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGTAGGGCCGATTCATAGA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11364	0.0		0.0	False		,,,				2504	0.0					ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1798-1800)cGg>cAg		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							28.0	32.0	31.0					2																	204306114		1772	3450	5222	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204306114C>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1799G>A	2.37:g.204306114C>T	ENSP00000316543:p.Arg600Gln					RAPH1_ENST00000374493.3_Missense_Mutation_p.R652Q|RAPH1_ENST00000457812.1_Intron	p.R600Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2098	-			600					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1799G>A	CCDS2359.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.62	2.291644	0.40594	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.21734	2.94;1.99	3.11	3.11	0.35812	.	0.995468	0.08128	U	0.993716	T	0.10380	0.0254	N	0.08118	0	0.80722	D	1	P	0.35272	0.493	B	0.16289	0.015	T	0.23655	-1.0182	10	0.31617	T	0.26	0.0351	13.6351	0.62217	0.0:1.0:0.0:0.0	.	600	Q70E73	RAPH1_HUMAN	Q	600;652	ENSP00000316543:R600Q;ENSP00000363617:R652Q	ENSP00000316543:R600Q	R	-	2	0	RAPH1	204014359	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	2.727000	0.47311	2.057000	0.61298	0.550000	0.68814	CGG		0.483	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		11	48	0	0	0	1	0	11	48				
SPTA1	6708	broad.mit.edu	37	1	158583611	158583611	+	Missense_Mutation	SNP	G	G	A	rs375016862		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:158583611G>A	ENST00000368147.4	-	50	7069	c.6889C>T	c.(6889-6891)Cgg>Tgg	p.R2297W	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2297	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCAGGACCGGAACTCTTTG	0.433																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6889-6891)Cgg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	TRP/ARG	0,3746		0,0,1873	56.0	54.0	54.0		6889	3.3	1.0	1		54	2,8198		0,2,4098	no	missense	SPTA1	NM_003126.2	101	0,2,5971	AA,AG,GG		0.0244,0.0,0.0167	probably-damaging	2297/2420	158583611	2,11944	1873	4100	5973	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158583611G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6889C>T	1.37:g.158583611G>A	ENSP00000357129:p.Arg2297Trp					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2294W	p.R2297W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			50	7069	-	all_hematologic(112;0.0378)		2297			EF-hand 1.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6889C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222818	0.58668	0.0	2.44E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.24908	1.83;1.83	5.21	3.34	0.38264	EF-hand-like domain (1);	0.306608	0.18063	N	0.152868	T	0.35038	0.0918	M	0.80508	2.5	0.32575	N	0.529291	D	0.89917	1.0	D	0.76071	0.987	T	0.32981	-0.9886	10	0.87932	D	0	.	6.6293	0.22847	0.0824:0.0:0.493:0.4246	.	2297	P02549	SPTA1_HUMAN	W	2297;2294	ENSP00000357130:R2297W;ENSP00000357129:R2294W	ENSP00000357129:R2294W	R	-	1	2	SPTA1	156850235	1.000000	0.71417	0.985000	0.45067	0.563000	0.35712	3.270000	0.51600	0.774000	0.33427	-0.142000	0.14014	CGG		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		14	28	0	0	0	1	0	14	28				
YTHDF3	253943	broad.mit.edu	37	8	64100088	64100088	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr8:64100088T>G	ENST00000539294.1	+	4	1832	c.1516T>G	c.(1516-1518)Ttt>Gtt	p.F506V	YTHDF3_ENST00000542911.2_Missense_Mutation_p.F317V|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	507	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAATGGATCTTTGTCAAAGA	0.413																																						ENST00000539294.1																			0											c.(1516-1518)Ttt>Gtt		YTH domain family, member 3							142.0	131.0	135.0					8																	64100088		1925	4144	6069	SO:0001583	missense	253943							g.chr8:64100088T>G	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1516T>G	8.37:g.64100088T>G	ENSP00000473496:p.Phe506Val					YTHDF3_ENST00000542911.2_Missense_Mutation_p.F317V|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron	p.F506V	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	1832	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	507			YTH.		B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1516T>G																																																																																					0.413	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		5	49	0	0	0	1	0	5	49				
SPATA31D1	389763	broad.mit.edu	37	9	84607540	84607540	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:84607540A>C	ENST00000344803.2	+	4	2202	c.2155A>C	c.(2155-2157)Att>Ctt	p.I719L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	719					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGAGCAAAATTTCAGAGCT	0.478																																						ENST00000344803.2																			0											c.(2155-2157)Att>Ctt		SPATA31 subfamily D, member 1							54.0	49.0	51.0					9																	84607540		1836	4083	5919	SO:0001583	missense	389763							g.chr9:84607540A>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2155A>C	9.37:g.84607540A>C	ENSP00000341988:p.Ile719Leu						p.I719L	NM_001001670.2	NP_001001670.1					4	2202	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2155A>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	1.153	-0.646109	0.03531	.	.	ENSG00000214929	ENST00000344803	T	0.05649	3.41	2.71	-3.34	0.04943	.	3.206080	0.00964	N	0.003147	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.29427	-1.0012	10	0.02654	T	1	2.3268	0.3658	0.00371	0.4003:0.1447:0.1559:0.2992	.	719	Q6ZQQ2	F75D1_HUMAN	L	719	ENSP00000341988:I719L	ENSP00000341988:I719L	I	+	1	0	FAM75D1	83797360	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.756000	0.04777	-0.742000	0.04790	0.459000	0.35465	ATT		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	58	0	0	0	1	0	4	58				
NLRP13	126204	broad.mit.edu	37	19	56443608	56443608	+	Missense_Mutation	SNP	G	G	C	rs142099336		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:56443608G>C	ENST00000342929.3	-	1	69	c.70C>G	c.(70-72)Ctg>Gtg	p.L24V	NLRP13_ENST00000588751.1_Missense_Mutation_p.L24V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	24	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TACTGATCCAGGGCCATCAGG	0.552																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(70-72)Ctg>Gtg		NLR family, pyrin domain containing 13							84.0	79.0	81.0					19																	56443608		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443608G>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.70C>G	19.37:g.56443608G>C	ENSP00000343891:p.Leu24Val					NLRP13_ENST00000342929.3_Missense_Mutation_p.L24V	p.L24V			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	94	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	24			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.70C>G	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765669	0.31228	.	.	ENSG00000173572	ENST00000342929	T	0.70045	-0.45	1.97	0.748	0.18376	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.75817	0.3901	M	0.76328	2.33	0.09310	N	1	D	0.65815	0.995	D	0.74674	0.984	T	0.61168	-0.7117	9	0.54805	T	0.06	.	4.2859	0.10855	0.2365:0.0:0.7635:0.0	.	24	Q86W25	NAL13_HUMAN	V	24	ENSP00000343891:L24V	ENSP00000343891:L24V	L	-	1	2	NLRP13	61135420	0.005000	0.15991	0.003000	0.11579	0.018000	0.09664	0.153000	0.16323	0.295000	0.22570	0.591000	0.81541	CTG		0.552	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	99	0	0	0	1	0	14	99				
OR2L8	391190	broad.mit.edu	37	1	248112991	248112991	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:248112991A>C	ENST00000357191.3	+	1	832	c.832A>C	c.(832-834)Acc>Ccc	p.T278P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGTCTTCTACACCATCCTCAC	0.493																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(832-834)Acc>Ccc		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							111.0	87.0	95.0					1																	248112991		2203	4298	6501	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112991A>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.832A>C	1.37:g.248112991A>C	ENSP00000349719:p.Thr278Pro					OR2L13_ENST00000366478.2_Intron	p.T278P	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	832	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		278					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.832A>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.289378	0.40494	.	.	ENSG00000196936	ENST00000357191	T	0.00269	8.37	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32287	U	0.006310	T	0.00440	0.0014	H	0.97103	3.94	0.27513	N	0.951638	P	0.40909	0.732	B	0.43575	0.424	T	0.08351	-1.0726	10	0.72032	D	0.01	.	8.4143	0.32662	1.0:0.0:0.0:0.0	.	278	Q8NGY9	OR2L8_HUMAN	P	278	ENSP00000349719:T278P	ENSP00000349719:T278P	T	+	1	0	OR2L8	246179614	0.000000	0.05858	0.999000	0.59377	0.932000	0.56968	-0.007000	0.12810	0.837000	0.34925	0.397000	0.26171	ACC		0.493	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			21	123	0	0	0	1	0	21	123				
OR51F1	256892	broad.mit.edu	37	11	4790345	4790345	+	Missense_Mutation	SNP	C	C	T	rs536873822		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:4790345C>T	ENST00000380383.1	-	1	823	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R268Q			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGGGGCTGACCGACCATAGCG	0.493																																						ENST00000380383.1																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(823-825)cGg>cAg		olfactory receptor, family 51, subfamily F, member 1							96.0	88.0	91.0					11																	4790345		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790345C>T	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.824G>A	11.37:g.4790345C>T	ENSP00000369744:p.Arg275Gln					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R268Q	p.R275Q			A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	823	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	268						Missense_Mutation	SNP	ENST00000380383.1	37	c.824G>A		.	.	.	.	.	.	.	.	.	.	c	5.765	0.325620	0.10900	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00063	8.78;8.78	5.24	-9.24	0.00669	GPCR, rhodopsin-like superfamily (1);	1.277500	0.05415	N	0.543231	T	0.00073	0.0002	N	0.10760	0.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.33085	-0.9882	10	0.56958	D	0.05	.	5.2957	0.15751	0.0829:0.1655:0.1739:0.5777	.	275	A6NGY5	O51F1_HUMAN	Q	268;275	ENSP00000345163:R268Q;ENSP00000369744:R275Q	ENSP00000345163:R268Q	R	-	2	0	OR51F1	4746921	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-7.257000	0.00040	-2.141000	0.00805	-1.599000	0.00816	CGG		0.493	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		10	82	0	0	0	1	0	10	82				
ABCB9	23457	broad.mit.edu	37	12	123434439	123434439	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:123434439C>T	ENST00000542678.1	-	4	3581	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ABCB9_ENST00000344275.7_Missense_Mutation_p.G248D|ABCB9_ENST00000280560.8_Missense_Mutation_p.G248D|ABCB9_ENST00000346530.5_Missense_Mutation_p.G248D|ABCB9_ENST00000540285.1_Missense_Mutation_p.G248D|ABCB9_ENST00000442028.2_Missense_Mutation_p.G248D|ABCB9_ENST00000442833.2_Missense_Mutation_p.G248D|ABCB9_ENST00000392439.3_Missense_Mutation_p.G248D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	248	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTAAAAATGCCGCCCCGAAT	0.522																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(742-744)gGc>gAc		ATP-binding cassette, sub-family B (MDR/TAP), member 9							141.0	142.0	141.0					12																	123434439		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123434439C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.743G>A	12.37:g.123434439C>T	ENSP00000440288:p.Gly248Asp					ABCB9_ENST00000540285.1_Missense_Mutation_p.G248D|ABCB9_ENST00000442028.2_Missense_Mutation_p.G248D|ABCB9_ENST00000392439.3_Missense_Mutation_p.G248D|ABCB9_ENST00000280560.8_Missense_Mutation_p.G248D|ABCB9_ENST00000346530.5_Missense_Mutation_p.G248D|ABCB9_ENST00000344275.7_Missense_Mutation_p.G248D|ABCB9_ENST00000442833.2_Missense_Mutation_p.G248D	p.G248D			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	4	3581	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		248			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.743G>A	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318691	0.95682	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000541424	T;D;T;T;T;T;D	0.91686	-1.36;-2.89;-1.36;-1.36;-1.36;-1.36;-2.54	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.995;1.0	D;D;D;D;D	0.91635	0.995;0.999;0.996;0.965;0.999	D	0.95576	0.8642	10	0.36615	T	0.2	-41.8864	20.1278	0.97990	0.0:1.0:0.0:0.0	.	248;248;30;248;248	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	D	248;248;248;248;248;248;27	ENSP00000280560:G248D;ENSP00000441734:G248D;ENSP00000280559:G248D;ENSP00000376234:G248D;ENSP00000440288:G248D;ENSP00000394898:G248D;ENSP00000440138:G27D	ENSP00000280560:G248D	G	-	2	0	ABCB9	122000392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.768000	0.95171	0.561000	0.74099	GGC		0.522	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		5	226	0	0	0	1	0	5	226				
CYP2J2	1573	broad.mit.edu	37	1	60377361	60377361	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:60377361A>C	ENST00000371204.3	-	4	646	c.603T>G	c.(601-603)ttT>ttG	p.F201L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	201					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CCTGGTACTCAAAGCGTTCTC	0.468																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(601-603)ttT>ttG		cytochrome P450, family 2, subfamily J, polypeptide 2							151.0	142.0	145.0					1																	60377361		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60377361A>C	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.603T>G	1.37:g.60377361A>C	ENSP00000360247:p.Phe201Leu					CYP2J2_ENST00000492633.1_5'UTR	p.F201L	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			4	646	-	all_cancers(7;0.000396)		201					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.603T>G	CCDS613.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324650	0.81580	.	.	ENSG00000134716	ENST00000371204	T	0.70045	-0.45	5.45	4.33	0.51752	.	0.050716	0.85682	D	0.000000	D	0.82815	0.5119	M	0.90483	3.12	0.47994	D	0.999569	D	0.71674	0.998	D	0.87578	0.998	D	0.85435	0.1151	10	0.87932	D	0	.	9.8758	0.41202	0.9186:0.0:0.0814:0.0	.	201	P51589	CP2J2_HUMAN	L	201	ENSP00000360247:F201L	ENSP00000360247:F201L	F	-	3	2	CYP2J2	60149949	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.868000	0.56055	2.065000	0.61736	0.533000	0.62120	TTT		0.468	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		24	105	0	0	0	1	0	24	105				
KRT14	3861	broad.mit.edu	37	17	39742589	39742589	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:39742589G>T	ENST00000167586.6	-	1	584	c.498C>A	c.(496-498)ttC>ttA	p.F166L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	166	Linker 1.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CAATGGTCTTGAAGTAGGGAC	0.572																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(496-498)ttC>ttA		keratin 14							156.0	147.0	150.0					17																	39742589		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742589G>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.498C>A	17.37:g.39742589G>T	ENSP00000167586:p.Phe166Leu						p.F166L	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			1	584	-		Breast(137;0.000307)	166			Linker 1.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.498C>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.820115	0.32145	.	.	ENSG00000186847	ENST00000167586	D	0.88664	-2.41	5.19	3.21	0.36854	Filament (1);	0.120167	0.37955	N	0.001863	D	0.86401	0.5924	M	0.64080	1.96	0.30284	N	0.791068	B	0.14438	0.01	B	0.20384	0.029	T	0.82370	-0.0491	10	0.62326	D	0.03	.	10.881	0.46937	0.2115:0.0:0.7885:0.0	.	166	P02533	K1C14_HUMAN	L	166	ENSP00000167586:F166L	ENSP00000167586:F166L	F	-	3	2	KRT14	36996115	0.000000	0.05858	1.000000	0.80357	0.508000	0.34012	-0.258000	0.08733	0.702000	0.31825	-0.275000	0.10095	TTC		0.572	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		15	168	1	0	3.27435e-08	1	3.5363e-08	15	168				
OR2B6	26212	broad.mit.edu	37	6	27925800	27925800	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr6:27925800A>C	ENST00000244623.1	+	1	782	c.782A>C	c.(781-783)cAa>cCa	p.Q261P		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGTACCTGCAACCACCTTCG	0.448																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(781-783)cAa>cCa		olfactory receptor, family 2, subfamily B, member 6							146.0	138.0	141.0					6																	27925800		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925800A>C	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.782A>C	6.37:g.27925800A>C	ENSP00000244623:p.Gln261Pro						p.Q261P	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	782	+			261					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.782A>C	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	a	7.870	0.727922	0.15507	.	.	ENSG00000124657	ENST00000244623	T	0.37915	1.17	3.82	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.267649	0.18833	U	0.129910	T	0.41259	0.1151	M	0.85945	2.785	0.09310	N	1	D	0.60575	0.988	D	0.67725	0.953	T	0.32851	-0.9891	10	0.87932	D	0	.	3.6164	0.08079	0.6948:0.0:0.1104:0.1948	.	261	P58173	OR2B6_HUMAN	P	261	ENSP00000244623:Q261P	ENSP00000244623:Q261P	Q	+	2	0	OR2B6	28033779	0.000000	0.05858	0.076000	0.20297	0.111000	0.19643	0.217000	0.17603	0.547000	0.28938	0.482000	0.46254	CAA		0.448	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			21	116	0	0	0	1	0	21	116				
STOML1	9399	broad.mit.edu	37	15	74281464	74281464	+	Missense_Mutation	SNP	G	G	T	rs370609840		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr15:74281464G>T	ENST00000316900.5	-	3	499	c.375C>A	c.(373-375)aaC>aaA	p.N125K	STOML1_ENST00000316911.6_Intron|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000561656.1_Missense_Mutation_p.N38K|STOML1_ENST00000359750.4_Missense_Mutation_p.N125K|STOML1_ENST00000541638.1_Missense_Mutation_p.N83K	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	125						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGGGAGGGACGTTGAAGGCTC	0.612																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(373-375)aaC>aaA		stomatin (EPB72)-like 1							58.0	53.0	55.0					15																	74281464		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281464G>T	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.375C>A	15.37:g.74281464G>T	ENSP00000319323:p.Asn125Lys					STOML1_ENST00000359750.4_Missense_Mutation_p.N125K|STOML1_ENST00000561656.1_Missense_Mutation_p.N38K|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Missense_Mutation_p.N83K|STOML1_ENST00000316911.6_Intron	p.N125K	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			3	499	-			125					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.375C>A	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092609	0.36952	.	.	ENSG00000067221	ENST00000316900;ENST00000541638;ENST00000359750	D;D;D	0.93076	-3.16;-3.16;-3.16	4.97	-5.14	0.02875	.	0.183380	0.56097	D	0.000026	D	0.93706	0.7989	M	0.68317	2.08	0.45899	D	0.998748	B;D;B;P	0.71674	0.449;0.998;0.449;0.747	P;D;B;P	0.67900	0.559;0.954;0.396;0.559	D	0.90995	0.4838	10	0.72032	D	0.01	-2.04	8.7125	0.34393	0.5343:0.1031:0.3626:0.0	.	83;125;125;125	B4DUU5;E7ESC0;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	K	125;83;125	ENSP00000319323:N125K;ENSP00000442478:N83K;ENSP00000352788:N125K	ENSP00000319323:N125K	N	-	3	2	STOML1	72068517	0.002000	0.14202	0.069000	0.20011	0.000000	0.00434	-0.188000	0.09642	-0.822000	0.04306	-0.499000	0.04595	AAC		0.612	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		18	69	1	0	1.64113e-05	1	1.73767e-05	18	69				
INTS5	80789	broad.mit.edu	37	11	62416624	62416624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:62416624G>A	ENST00000330574.2	-	2	980	c.928C>T	c.(928-930)Cga>Tga	p.R310*	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	310					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGCTCCCGTCGGATGCTATCT	0.622																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(928-930)Cga>Tga		integrator complex subunit 5							52.0	59.0	56.0					11																	62416624		2202	4299	6501	SO:0001587	stop_gained	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416624G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.928C>T	11.37:g.62416624G>A	ENSP00000327889:p.Arg310*						p.R310*	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	980	-			310					Q8N6W5|Q9C0G5	Nonsense_Mutation	SNP	ENST00000330574.2	37	c.928C>T	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805609	0.50315	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.45	2.53	0.30540	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1265	0.14888	0.0981:0.0:0.5354:0.3664	.	.	.	.	X	310	.	ENSP00000327889:R310X	R	-	1	2	INTS5	62173200	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	2.712000	0.47186	0.490000	0.27771	-0.145000	0.13849	CGA		0.622	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		30	156	0	0	0	1	0	30	156				
AGRN	375790	broad.mit.edu	37	1	981638	981638	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:981638G>A	ENST00000379370.2	+	17	2954	c.2904G>A	c.(2902-2904)ccG>ccA	p.P968P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	968	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCCTGGGCCCGTGCCAGGGTG	0.637																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2902-2904)ccG>ccA		agrin							56.0	61.0	59.0					1																	981638		2203	4300	6503	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:981638G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2904G>A	1.37:g.981638G>A							p.P968P	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	17	2954	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	968			Kazal-like 9.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.2904G>A	CCDS30551.1																																																																																				0.637	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		24	113	0	0	0	1	0	24	113				
SEMA5A	9037	broad.mit.edu	37	5	9063074	9063074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:9063074C>A	ENST00000382496.5	-	18	3108	c.2443G>T	c.(2443-2445)Gaa>Taa	p.E815*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	815	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACTTGGGTTCGGGGTTGTTG	0.562																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2443-2445)Gaa>Taa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							109.0	87.0	95.0					5																	9063074		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9063074C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2443G>T	5.37:g.9063074C>A	ENSP00000371936:p.Glu815*						p.E815*	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			18	3108	-			815			TSP type-1 5.		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.2443G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	46	12.104273	0.99636	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.65	5.65	0.86999	.	0.050287	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	17.2182	0.86950	0.0:1.0:0.0:0.0	.	.	.	.	X	815	.	ENSP00000371936:E815X	E	-	1	0	SEMA5A	9116074	1.000000	0.71417	0.949000	0.38748	0.682000	0.39822	5.620000	0.67736	2.659000	0.90383	0.655000	0.94253	GAA		0.562	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			19	112	1	0	1.96292e-10	1	2.16322e-10	19	112				
IGSF9B	22997	broad.mit.edu	37	11	133801985	133801985	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:133801985C>T	ENST00000321016.8	-	8	1321	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R364H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	364	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGCAGGGGACGGCCGTCCTT	0.607																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1090-1092)cGt>cAt		immunoglobulin superfamily, member 9B							69.0	84.0	79.0					11																	133801985		2127	4231	6358	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133801985C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1091G>A	11.37:g.133801985C>T	ENSP00000317980:p.Arg364His					IGSF9B_ENST00000533871.2_Missense_Mutation_p.R364H	p.R364H			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	8	1321	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	364			Ig-like 4.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1091G>A		.	.	.	.	.	.	.	.	.	.	C	13.70	2.314383	0.40996	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.12465	2.68;2.68;2.68	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14657	0.0354	L	0.46670	1.46	0.38678	D	0.952462	B	0.31680	0.335	B	0.26416	0.069	T	0.07578	-1.0765	9	0.33141	T	0.24	.	18.2442	0.89979	0.0:1.0:0.0:0.0	.	364	Q9UPX0	TUTLB_HUMAN	H	364;206;364	ENSP00000317980:R364H;ENSP00000436552:R206H;ENSP00000436576:R364H	ENSP00000317980:R364H	R	-	2	0	IGSF9B	133307195	0.998000	0.40836	0.998000	0.56505	0.595000	0.36748	3.630000	0.54273	2.535000	0.85469	0.556000	0.70494	CGT		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	32	0	0	0	1	0	4	32				
PRSS48	345062	broad.mit.edu	37	4	152203538	152203538	+	Missense_Mutation	SNP	G	G	A	rs188453537		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:152203538G>A	ENST00000455694.2	+	3	456	c.454G>A	c.(454-456)Gga>Aga	p.G152R	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	152	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGGGTGACCGGATGGGGAAA	0.463													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17729	0.0		0.0	False		,,,				2504	0.0					ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(454-456)Gga>Aga		protease, serine, 48							101.0	95.0	96.0					4																	152203538		1944	4141	6085	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203538G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.454G>A	4.37:g.152203538G>A	ENSP00000401328:p.Gly152Arg					SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	p.G152R	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			3	456	+			152			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.454G>A	CCDS47145.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	13.29	2.193073	0.38707	.	.	ENSG00000189099	ENST00000455694	T	0.59364	0.27	3.74	2.9	0.33743	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.229512	0.22501	N	0.059226	D	0.82508	0.5052	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85365	0.1110	10	0.66056	D	0.02	.	9.7946	0.40726	0.1034:0.0:0.8966:0.0	.	152	Q7RTY5	PRS48_HUMAN	R	152	ENSP00000401328:G152R	ENSP00000401328:G152R	G	+	1	0	PRSS48	152422988	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	6.326000	0.72905	1.166000	0.42689	-0.320000	0.08662	GGA		0.463	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		40	55	0	0	0	1	0	40	55				
CPM	1368	broad.mit.edu	37	12	69260699	69260699	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:69260699T>C	ENST00000551568.1	-	7	977	c.917A>G	c.(916-918)gAa>gGa	p.E306G	CPM_ENST00000546373.1_Missense_Mutation_p.E306G|CPM_ENST00000338356.3_Missense_Mutation_p.E306G	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	306					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CTTTATATATTCAATTAATGA	0.373																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(916-918)gAa>gGa		carboxypeptidase M							63.0	67.0	66.0					12																	69260699		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69260699T>C	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.917A>G	12.37:g.69260699T>C	ENSP00000448517:p.Glu306Gly					CPM_ENST00000338356.3_Missense_Mutation_p.E306G|CPM_ENST00000546373.1_Missense_Mutation_p.E306G	p.E306G	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		7	977	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		306					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.917A>G	CCDS8987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.61|10.61	1.397839|1.397839	0.25205|0.25205	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373|ENST00000551897	T;T;T|.	0.03413|.	3.94;3.94;3.94|.	5.44|5.44	1.57|1.57	0.23409|0.23409	Peptidase M14, carboxypeptidase A (1);|.	0.458728|.	0.26300|.	N|.	0.025174|.	T|T	0.58524|0.58524	0.2128|0.2128	L|L	0.58583|0.58583	1.82|1.82	0.41229|0.41229	D|D	0.986566|0.986566	P|.	0.48230|.	0.907|.	B|.	0.39706|.	0.307|.	T|T	0.53380|0.53380	-0.8447|-0.8447	9|5	.|.	.|.	.|.	-14.1811|-14.1811	8.4353|8.4353	0.32784|0.32784	0.0:0.067:0.2455:0.6874|0.0:0.067:0.2455:0.6874	.|.	306|.	P14384|.	CBPM_HUMAN|.	G|D	306|109	ENSP00000448517:E306G;ENSP00000339157:E306G;ENSP00000447255:E306G|.	.|.	E|N	-|-	2|1	0|0	CPM|CPM	67546966|67546966	0.994000|0.994000	0.37717|0.37717	0.881000|0.881000	0.34555|0.34555	0.202000|0.202000	0.24057|0.24057	1.554000|1.554000	0.36266|0.36266	0.402000|0.402000	0.25451|0.25451	-0.316000|-0.316000	0.08728|0.08728	GAA|AAT		0.373	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		9	51	0	0	0	1	0	9	51				
OR8U1	219417	broad.mit.edu	37	11	56143908	56143908	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:56143908C>T	ENST00000302270.1	+	1	809	c.809C>T	c.(808-810)aCa>aTa	p.T270I		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCCCTGGACACAGACAAGATG	0.463																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(808-810)aCa>aTa		olfactory receptor, family 8, subfamily U, member 1							133.0	139.0	137.0					11																	56143908		2076	4257	6333	SO:0001583	missense	219417							g.chr11:56143908C>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.809C>T	11.37:g.56143908C>T	ENSP00000304188:p.Thr270Ile						p.T270I	NM_001005204.1	NP_001005204.1					1	809	+	Esophageal squamous(21;0.00448)								Missense_Mutation	SNP	ENST00000302270.1	37	c.809C>T	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727314	0.30593	.	.	ENSG00000172199	ENST00000302270	T	0.00058	8.79	5.69	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.144296	0.32134	N	0.006534	T	0.00241	0.0007	N	0.21617	0.685	0.21675	N	0.999598	D	0.54397	0.966	D	0.64776	0.929	T	0.65360	-0.6187	10	0.56958	D	0.05	.	9.7388	0.40404	0.0:0.7957:0.0:0.2043	.	270	Q8NH10	OR8U1_HUMAN	I	270	ENSP00000304188:T270I	ENSP00000304188:T270I	T	+	2	0	OR8U1	55900484	0.000000	0.05858	0.999000	0.59377	0.142000	0.21351	-0.606000	0.05654	2.696000	0.92011	0.579000	0.79373	ACA		0.463	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		5	176	0	0	0	1	0	5	176				
RLN2	6019	broad.mit.edu	37	9	5304549	5304549	+	Missense_Mutation	SNP	C	C	T	rs2012109	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:5304549C>T	ENST00000381627.3	-	1	420	c.32G>A	c.(31-33)gGa>gAa	p.G11E	RLN2_ENST00000308420.3_Missense_Mutation_p.G11E	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	11					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TAAACAGACTCCTAGCAGGTG	0.527													C|||	10	0.00199681	0.0	0.0014	5008	,	,		17267	0.001		0.0	False		,,,				2504	0.0082					ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(31-33)gGa>gAa		relaxin 2		C	GLU/GLY,GLU/GLY	1,4405	2.1+/-5.4	0,1,2202	73.0	76.0	75.0		32,32	2.3	0.3	9	dbSNP_92	75	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RLN2	NM_005059.2,NM_134441.1	98,98	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	11/118,11/186	5304549	3,13003	2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304549C>T		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.32G>A	9.37:g.5304549C>T	ENSP00000371040:p.Gly11Glu					RLN2_ENST00000308420.3_Missense_Mutation_p.G11E	p.G11E	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	420	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	11					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.32G>A	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726343	0.30593	2.27E-4	2.33E-4	ENSG00000107014	ENST00000381627;ENST00000308420	T;T	0.51325	0.71;2.14	3.23	2.33	0.28932	Insulin-like (1);	0.265855	0.26377	N	0.024723	T	0.50599	0.1625	L	0.39397	1.21	0.19575	N	0.999964	B;D	0.65815	0.298;0.995	B;D	0.66351	0.101;0.943	T	0.25502	-1.0130	10	0.37606	T	0.19	.	6.3611	0.21429	0.0:0.8627:0.0:0.1373	rs2012109	11;11	P04090;P04090-2	REL2_HUMAN;.	E	11	ENSP00000371040:G11E;ENSP00000308018:G11E	ENSP00000308018:G11E	G	-	2	0	RLN2	5294549	0.074000	0.21230	0.261000	0.24466	0.201000	0.24016	0.645000	0.24782	0.939000	0.37446	0.462000	0.41574	GGA		0.527	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		7	119	0	0	0	1	0	7	119				
OCA2	4948	broad.mit.edu	37	15	28228550	28228550	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr15:28228550T>G	ENST00000354638.3	-	14	1599	c.1444A>C	c.(1444-1446)Act>Cct	p.T482P	OCA2_ENST00000353809.5_Missense_Mutation_p.T458P|OCA2_ENST00000382996.2_Missense_Mutation_p.T482P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	482					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)		CCGATGGCAGTGGCAGCTCCT	0.478									Oculocutaneous Albinism																													ENST00000354638.3																			0				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						c.(1444-1446)Act>Cct		oculocutaneous albinism II							146.0	120.0	129.0					15																	28228550		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.chr15:28228550T>G		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.1444A>C	15.37:g.28228550T>G	ENSP00000346659:p.Thr482Pro					OCA2_ENST00000382996.2_Missense_Mutation_p.T482P|OCA2_ENST00000353809.5_Missense_Mutation_p.T458P	p.T482P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	14	1599	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	482					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1444A>C	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991841	0.74703	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.92858	-3.12;-3.12;-3.12	5.33	4.21	0.49690	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	H	0.94264	3.515	0.51012	D	0.999902	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96353	0.9260	10	0.87932	D	0	-18.2996	10.2914	0.43599	0.0:0.0775:0.0:0.9225	.	458;482	Q04671-2;Q04671	.;P_HUMAN	P	482;458;482	ENSP00000346659:T482P;ENSP00000261276:T458P;ENSP00000372457:T482P	ENSP00000261276:T458P	T	-	1	0	OCA2	25902145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.312000	0.78968	0.872000	0.35775	-0.250000	0.11733	ACT		0.478	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		12	74	0	0	0	1	0	12	74				
PCSK2	5126	broad.mit.edu	37	20	17446004	17446004	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr20:17446004G>A	ENST00000262545.2	+	11	1551	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	PCSK2_ENST00000377899.1_Silent_p.L393L|PCSK2_ENST00000536609.1_Silent_p.L377L|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	412	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGCAGCATCTGACTGTGCTCA	0.592																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1234-1236)ctG>ctA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						93.0	68.0	76.0					20																	17446004		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446004G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1236G>A	20.37:g.17446004G>A						PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.L393L|PCSK2_ENST00000536609.1_Silent_p.L377L	p.L412L	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1551	+			412			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1236G>A	CCDS13125.1																																																																																				0.592	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	94	0	0	0	1	0	6	94				
AGAP1	116987	broad.mit.edu	37	2	236957747	236957747	+	Missense_Mutation	SNP	G	G	A	rs376727493		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:236957747G>A	ENST00000304032.8	+	16	2516	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	AGAP1_ENST00000336665.5_Missense_Mutation_p.E593K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E485K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E858K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	646	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGTGCATCGAATGCTCAGG	0.532																																						ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2572-2574)Gaa>Aaa		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	196.0	166.0	177.0		1936,1777	5.3	1.0	2		177	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	646/858,593/805	236957747	1,13005	2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957747G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1936G>A	2.37:g.236957747G>A	ENSP00000307634:p.Glu646Lys					AGAP1_ENST00000336665.5_Missense_Mutation_p.E593K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E485K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E646K	p.E858K			Q9UPQ3	AGAP1_HUMAN			15	3068	+			646					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2572G>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.735928|5.735928	0.96865|0.96865	0.0|0.0	1.16E-4|1.16E-4	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654;ENST00000453371	T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72835|0.72835	0.3510|0.3510	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.80764|.	0.988;0.994|.	T|T	0.70436|0.70436	-0.4872|-0.4872	10|5	0.87932|.	D|.	0|.	.|.	19.0581|19.0581	0.93074|0.93074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	593;646|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	K|Q	646;593;858;485|198;47	ENSP00000307634:E646K;ENSP00000338378:E593K;ENSP00000386897:E858K;ENSP00000411824:E485K|.	ENSP00000307634:E646K|.	E|R	+|+	1|2	0|0	AGAP1|AGAP1	236622486|236622486	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.722000|9.722000	0.98770|0.98770	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.532	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		16	112	0	0	0	1	0	16	112				
ZC3H4	23211	broad.mit.edu	37	19	47588398	47588398	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:47588398C>T	ENST00000253048.5	-	8	1059	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	341	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R341L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCTCGGCCCCGACCCATTCC	0.627																																						ENST00000253048.5																			1	Substitution - Missense(1)	p.R341L(1)	lung(1)	NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1021-1023)cGg>cAg		zinc finger CCCH-type containing 4							141.0	150.0	147.0					19																	47588398		2062	4168	6230	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47588398C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1022G>A	19.37:g.47588398C>T	ENSP00000253048:p.Arg341Gln					ZC3H4_ENST00000594019.1_5'UTR	p.R341Q	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	8	1059	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	341			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1022G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467861	0.84533	.	.	ENSG00000130749	ENST00000253048	T	0.20200	2.09	5.97	5.97	0.96955	.	0.279566	0.31450	N	0.007623	T	0.42291	0.1196	L	0.55481	1.735	0.58432	D	0.999991	D	0.89917	1.0	D	0.63957	0.92	T	0.02512	-1.1148	10	0.46703	T	0.11	.	19.2055	0.93728	0.0:1.0:0.0:0.0	.	341	Q9UPT8	ZC3H4_HUMAN	Q	341	ENSP00000253048:R341Q	ENSP00000253048:R341Q	R	-	2	0	ZC3H4	52280238	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	3.874000	0.56101	2.838000	0.97847	0.561000	0.74099	CGG		0.627	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			46	205	0	0	0	1	0	46	205				
SLC25A43	203427	broad.mit.edu	37	X	118586106	118586106	+	Splice_Site	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chrX:118586106G>A	ENST00000217909.7	+	4	1169	c.825G>A	c.(823-825)aaG>aaA	p.K275K	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Splice_Site_p.D218N	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	275					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						ATTTACTGAAGGTGAGAAGAG	0.547																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.e4+1		solute carrier family 25, member 43							46.0	49.0	48.0					X																	118586106		2203	4300	6503	SO:0001630	splice_region_variant	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118586106G>A	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.825+1G>A	X.37:g.118586106G>A						SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Splice_Site_p.D218_splice	p.K275_splice	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			4	1169	+			275					O75854|Q8N9L5	Splice_Site	SNP	ENST00000217909.7	37	c.825_splice	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876443	0.72180	.	.	ENSG00000077713	ENST00000336249	T	0.77098	-1.07	5.37	5.37	0.77165	.	.	.	.	.	T	0.75744	0.3891	.	.	.	0.53688	D	0.999979	P	0.47106	0.89	B	0.41036	0.346	T	0.80294	-0.1443	8	0.87932	D	0	.	17.0788	0.86593	0.0:0.0:1.0:0.0	.	218	B4E1P8	.	N	218	ENSP00000338628:D218N	ENSP00000338628:D218N	D	+	1	0	SLC25A43	118470134	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.906000	0.92626	2.242000	0.73789	0.600000	0.82982	GAT		0.547	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305	Silent	8	84	0	0	0	1	0	8	84				
NDST3	9348	broad.mit.edu	37	4	119059214	119059214	+	Silent	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:119059214C>T	ENST00000296499.5	+	5	1633	c.1230C>T	c.(1228-1230)caC>caT	p.H410H	NDST3_ENST00000433996.2_Silent_p.H329H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	410	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTAGGAGCACGGCATTCCAA	0.418																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1228-1230)caC>caT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							87.0	86.0	86.0					4																	119059214		2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059214C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1230C>T	4.37:g.119059214C>T						NDST3_ENST00000433996.2_Silent_p.H329H	p.H410H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			5	1633	+			410			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1230C>T	CCDS3708.1																																																																																				0.418	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		10	56	0	0	0	1	0	10	56				
HK3	3101	broad.mit.edu	37	5	176314638	176314638	+	Missense_Mutation	SNP	C	C	T	rs184900635	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:176314638C>T	ENST00000292432.5	-	11	1505	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	472	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCAGCCACGGCAGTCACC	0.652													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15582	0.001		0.0	False		,,,				2504	0.0					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1414-1416)Gtg>Atg		hexokinase 3 (white cell)		C	MET/VAL	0,4406		0,0,2203	35.0	33.0	34.0		1414	4.4	0.9	5		34	1,8597		0,1,4298	no	missense	HK3	NM_002115.2	21	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	472/924	176314638	1,13003	2203	4299	6502	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176314638C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1414G>A	5.37:g.176314638C>T	ENSP00000292432:p.Val472Met						p.V472M	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1505	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	472			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.1414G>A	CCDS4407.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.58	2.876571	0.51801	0.0	1.16E-4	ENSG00000160883	ENST00000292432	D	0.97328	-4.34	4.43	4.43	0.53597	Hexokinase, C-terminal (1);	0.000000	0.47093	D	0.000253	D	0.98105	0.9375	M	0.75615	2.305	0.41089	D	0.985588	D	0.89917	1.0	D	0.87578	0.998	D	0.99376	1.0921	10	0.72032	D	0.01	-17.6689	14.8517	0.70300	0.0:1.0:0.0:0.0	.	472	P52790	HXK3_HUMAN	M	472	ENSP00000292432:V472M	ENSP00000292432:V472M	V	-	1	0	HK3	176247244	1.000000	0.71417	0.871000	0.34182	0.003000	0.03518	5.182000	0.65059	2.007000	0.58848	0.561000	0.74099	GTG		0.652	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			14	60	0	0	0	1	0	14	60				
PNPLA6	10908	broad.mit.edu	37	19	7615195	7615195	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:7615195C>T	ENST00000221249.6	+	18	2140	c.1709C>T	c.(1708-1710)gCa>gTa	p.A570V	PNPLA6_ENST00000545201.2_Missense_Mutation_p.A544V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A570V|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Missense_Mutation_p.A618V|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A609V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	609					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCATGCGCGCACAGCCCAGT	0.632																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1708-1710)gCa>gTa		patatin-like phospholipase domain containing 6							69.0	67.0	68.0					19																	7615195		2199	4286	6485	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615195C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1709C>T	19.37:g.7615195C>T	ENSP00000221249:p.Ala570Val					PNPLA6_ENST00000545201.2_Missense_Mutation_p.A544V|PNPLA6_ENST00000450331.3_Missense_Mutation_p.A570V|PNPLA6_ENST00000414982.3_Missense_Mutation_p.A618V|PNPLA6_ENST00000600737.1_Missense_Mutation_p.A609V|PNPLA6_ENST00000594864.1_3'UTR	p.A570V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			18	2140	+			609					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1709C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675187	0.67928	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	5.1	4.03	0.46877	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.054734	0.64402	D	0.000001	D	0.87485	0.6189	L	0.43923	1.385	0.50171	D	0.999853	B;B;B;B	0.12013	0.005;0.002;0.004;0.002	B;B;B;B	0.19666	0.026;0.005;0.015;0.005	D	0.83883	0.0280	10	0.45353	T	0.12	.	9.5664	0.39400	0.3548:0.6451:0.0:0.0	.	609;544;609;570	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	V	570;544;618;570	ENSP00000221249:A570V;ENSP00000443323:A544V;ENSP00000407509:A618V;ENSP00000394348:A570V	ENSP00000221249:A570V	A	+	2	0	PNPLA6	7521195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.717000	0.74707	2.383000	0.81215	0.591000	0.81541	GCA		0.632	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		51	143	0	0	0	1	0	51	143				
DKKL1	27120	broad.mit.edu	37	19	49867984	49867984	+	Silent	SNP	C	C	G	rs141910577		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:49867984C>G	ENST00000221498.2	+	2	561	c.156C>G	c.(154-156)ctC>ctG	p.L52L	TEAD2_ENST00000311227.2_5'Flank|TEAD2_ENST00000593945.1_5'Flank|DKKL1_ENST00000594268.1_Intron|TEAD2_ENST00000601519.1_5'Flank|TEAD2_ENST00000539846.1_5'Flank	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	52					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		AGAGCCTACTCCAAGGCTTCA	0.572																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(154-156)ctC>ctG		dickkopf-like 1							56.0	54.0	55.0					19																	49867984		2202	4300	6502	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49867984C>G	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.156C>G	19.37:g.49867984C>G						DKKL1_ENST00000594268.1_Intron	p.L52L	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	2	561	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	52						Silent	SNP	ENST00000221498.2	37	c.156C>G	CCDS12762.1																																																																																				0.572	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		12	117	0	0	0	1	0	12	117				
TMC4	147798	broad.mit.edu	37	19	54672356	54672356	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:54672356G>A	ENST00000376591.4	-	4	642	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.L165F	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	171					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTAAGAAGGAGCAGGAAGCGC	0.672											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(511-513)Ctc>Ttc		transmembrane channel-like 4							31.0	26.0	27.0					19																	54672356		2193	4288	6481	SO:0001583	missense	147798					integral to membrane		g.chr19:54672356G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.511C>T	19.37:g.54672356G>A	ENSP00000365776:p.Leu171Phe		OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1002	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.L165F	p.L171F	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			4	642	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		171					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.511C>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570122	0.65765	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.66099	-0.19;-0.19;-0.19	4.2	4.2	0.49525	.	0.277119	0.30791	N	0.008863	T	0.67107	0.2858	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.959	D;P	0.65773	0.938;0.749	T	0.65096	-0.6251	10	0.36615	T	0.2	-15.4412	7.836	0.29369	0.0:0.1751:0.6446:0.1803	.	171;165	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	F	165;171;75	ENSP00000301187:L165F;ENSP00000365776:L171F;ENSP00000416444:L75F	ENSP00000301187:L165F	L	-	1	0	TMC4	59364168	1.000000	0.71417	0.987000	0.45799	0.887000	0.51463	3.132000	0.50523	2.071000	0.62044	0.558000	0.71614	CTC		0.672	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			3	12	0	0	0	1	0	3	12				
ANKRD11	29123	broad.mit.edu	37	16	89351758	89351758	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:89351758C>T	ENST00000301030.4	-	9	1652	c.1192G>A	c.(1192-1194)Gca>Aca	p.A398T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A398T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	398					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTTGGTGCAATCGTGTTA	0.453																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1192-1194)Gca>Aca		ankyrin repeat domain 11							105.0	99.0	101.0					16																	89351758		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89351758C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1192G>A	16.37:g.89351758C>T	ENSP00000301030:p.Ala398Thr					ANKRD11_ENST00000378330.2_Missense_Mutation_p.A398T	p.A398T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1652	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	398					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1192G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178911	0.38511	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.35973	1.28;1.28	5.4	5.4	0.78164	.	0.063717	0.64402	D	0.000003	T	0.21347	0.0514	N	0.17082	0.46	0.80722	D	1	B;B	0.31459	0.165;0.324	B;B	0.28011	0.032;0.085	T	0.07328	-1.0778	10	0.30078	T	0.28	.	10.3557	0.43962	0.0:0.8787:0.0:0.1213	.	17;398	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	T	398;398;17	ENSP00000301030:A398T;ENSP00000367581:A398T	ENSP00000301030:A398T	A	-	1	0	ANKRD11	87879259	1.000000	0.71417	0.955000	0.39395	0.960000	0.62799	4.809000	0.62591	2.539000	0.85634	0.563000	0.77884	GCA		0.453	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	92	0	0	0	1	0	17	92				
PARP4	143	broad.mit.edu	37	13	25021240	25021240	+	Missense_Mutation	SNP	C	C	T	rs372126761	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr13:25021240C>T	ENST00000381989.3	-	26	3304	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1067					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCAGGGCCTCGGGCACATCT	0.507													c|||	2	0.000399361	0.0008	0.0	5008	,	,		15369	0.001		0.0	False		,,,				2504	0.0					ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3199-3201)Gag>Aag		poly (ADP-ribose) polymerase family, member 4		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	64.0	58.0	60.0		3199	2.0	0.0	13		60	0,8600		0,0,4300	no	missense	PARP4	NM_006437.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1067/1725	25021240	1,13005	2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25021240C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3199G>A	13.37:g.25021240C>T	ENSP00000371419:p.Glu1067Lys						p.E1067K	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	26	3304	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1067					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.3199G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825618	0.16749	2.27E-4	0.0	ENSG00000102699	ENST00000381989	T	0.02032	4.49	4.71	1.95	0.26073	.	0.402398	0.27673	N	0.018325	T	0.01320	0.0043	N	0.20881	0.62	0.09310	N	0.999996	P	0.35628	0.513	B	0.18561	0.022	T	0.52177	-0.8610	10	0.31617	T	0.26	-15.8321	6.4436	0.21863	0.0:0.6761:0.1507:0.1732	.	1067	Q9UKK3	PARP4_HUMAN	K	1067	ENSP00000371419:E1067K	ENSP00000371419:E1067K	E	-	1	0	PARP4	23919240	0.405000	0.25336	0.042000	0.18584	0.219000	0.24729	0.722000	0.25925	0.286000	0.22352	0.644000	0.83932	GAG		0.507	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		6	94	0	0	0	1	0	6	94				
PDE1B	5153	broad.mit.edu	37	12	54968998	54968998	+	Missense_Mutation	SNP	G	G	A	rs143206355		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:54968998G>A	ENST00000243052.3	+	11	1617	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	PDE1B_ENST00000538346.1_Missense_Mutation_p.R353H|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R374H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	394	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAATTCTTCCGTCAGGTAGCG	0.572																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1180-1182)cGt>cAt		phosphodiesterase 1B, calmodulin-dependent							153.0	127.0	136.0					12																	54968998		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54968998G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1181G>A	12.37:g.54968998G>A	ENSP00000243052:p.Arg394His					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.R374H|PDE1B_ENST00000538346.1_Missense_Mutation_p.R353H	p.R394H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			11	1617	+			394			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1181G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723513	0.89298	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.81579	-1.51;-1.51;-1.51	5.25	5.25	0.73442	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.064498	0.64402	D	0.000014	D	0.89736	0.6801	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.967;0.981	D	0.90432	0.4425	10	0.59425	D	0.04	.	16.7112	0.85386	0.0:0.0:1.0:0.0	.	374;394	Q01064-2;Q01064	.;PDE1B_HUMAN	H	394;353;374	ENSP00000243052:R394H;ENSP00000442559:R353H;ENSP00000448519:R374H	ENSP00000243052:R394H	R	+	2	0	PDE1B	53255265	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.471000	0.66762	2.618000	0.88619	0.561000	0.74099	CGT		0.572	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			6	81	0	0	0	1	0	6	81				
DNAI2	64446	broad.mit.edu	37	17	72308160	72308160	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:72308160C>T	ENST00000311014.6	+	12	1580	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	DNAI2_ENST00000582036.1_Missense_Mutation_p.R493W|DNAI2_ENST00000579490.1_Missense_Mutation_p.R562W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R505W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R362W|RP11-647F2.2_ENST00000585167.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	505					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGTGAGACCCGGCGAGAGAA	0.657									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1684-1686)Cgg>Tgg		dynein, axonemal, intermediate chain 2							41.0	40.0	40.0					17																	72308160		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308160C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1513C>T	17.37:g.72308160C>T	ENSP00000308312:p.Arg505Trp					DNAI2_ENST00000311014.6_Missense_Mutation_p.R505W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R493W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R362W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R505W	p.R562W			Q9GZS0	DNAI2_HUMAN			11	1819	+			505					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1684C>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554518	0.86231	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.32753	1.44;1.44;1.44	4.77	3.73	0.42828	.	0.183072	0.46145	D	0.000313	T	0.51193	0.1660	M	0.80332	2.49	0.47341	D	0.999397	D	0.69078	0.997	P	0.61874	0.895	T	0.56890	-0.7904	10	0.72032	D	0.01	-25.7013	10.601	0.45367	0.4:0.6:0.0:0.0	.	505	Q9GZS0	DNAI2_HUMAN	W	505;362;505	ENSP00000308312:R505W;ENSP00000302929:R362W;ENSP00000400252:R505W	ENSP00000302929:R362W	R	+	1	2	DNAI2	69819755	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.475000	0.73582	2.228000	0.72767	0.485000	0.47835	CGG		0.657	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		8	50	0	0	0	1	0	8	50				
MLLT4	4301	broad.mit.edu	37	6	168315999	168315999	+	Silent	SNP	G	G	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr6:168315999G>T	ENST00000447894.2	+	18	2430	c.2430G>T	c.(2428-2430)ctG>ctT	p.L810L	MLLT4_ENST00000366806.2_Silent_p.L810L|MLLT4_ENST00000344191.4_Silent_p.L810L|MLLT4_ENST00000392108.3_Silent_p.L810L|MLLT4_ENST00000351017.4_Silent_p.L817L|MLLT4_ENST00000392112.1_Silent_p.L794L|MLLT4_ENST00000400822.3_Silent_p.L809L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	810	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATTCGGGGCTGTGCTCCCATT	0.547			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2428-2430)ctG>ctT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							106.0	87.0	94.0					6																	168315999		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168315999G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2430G>T	6.37:g.168315999G>T						MLLT4_ENST00000351017.4_Silent_p.L817L|MLLT4_ENST00000344191.4_Silent_p.L810L|MLLT4_ENST00000400822.3_Silent_p.L809L|MLLT4_ENST00000447894.2_Silent_p.L810L|MLLT4_ENST00000392112.1_Silent_p.L794L|MLLT4_ENST00000392108.3_Silent_p.L810L	p.L810L			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	18	2572	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	810			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.2430G>T																																																																																					0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		5	55	1	0	0.014758	1	0.0148959	5	55				
TEF	7008	broad.mit.edu	37	22	41791810	41791810	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr22:41791810C>T	ENST00000266304.4	+	4	874	c.758C>T	c.(757-759)gCc>gTc	p.A253V	TEF_ENST00000406644.3_Missense_Mutation_p.A223V	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	253	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TCACGGGATGCCCGGCGCCTG	0.582																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(757-759)gCc>gTc		thyrotrophic embryonic factor							92.0	82.0	85.0					22																	41791810		2203	4300	6503	SO:0001583	missense	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41791810C>T		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.758C>T	22.37:g.41791810C>T	ENSP00000266304:p.Ala253Val					TEF_ENST00000406644.3_Missense_Mutation_p.A223V	p.A253V	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			4	874	+			253					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	c.758C>T	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	36	5.918703	0.97105	.	.	ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304	T;T	0.46063	0.88;0.88	5.8	5.8	0.92144	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	T	0.74447	-0.3662	10	0.87932	D	0	-28.5523	20.0693	0.97712	0.0:1.0:0.0:0.0	.	258;253;223	B4DIH3;Q10587;Q10587-2	.;TEF_HUMAN;.	V	223;223;253	ENSP00000385256:A223V;ENSP00000266304:A253V	ENSP00000266304:A253V	A	+	2	0	TEF	40121756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.440000	0.80464	2.758000	0.94735	0.563000	0.77884	GCC		0.582	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		4	117	0	0	0	1	0	4	117				
GALNT2	2590	broad.mit.edu	37	1	230415140	230415140	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:230415140G>A	ENST00000366672.4	+	16	1724	c.1652G>A	c.(1651-1653)aGc>aAc	p.S551N	GALNT2_ENST00000543760.1_Missense_Mutation_p.S513N|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	551	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGGGCCTAAGCGTGGAGGTG	0.637																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1651-1653)aGc>aAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							68.0	61.0	63.0					1																	230415140		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230415140G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1652G>A	1.37:g.230415140G>A	ENSP00000355632:p.Ser551Asn					GALNT2_ENST00000543760.1_Missense_Mutation_p.S513N|GALNT2_ENST00000485438.1_3'UTR	p.S551N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			16	1724	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	551			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1652G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852015	0.32699	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.29917	1.55;1.55	5.45	5.45	0.79879	Ricin B-related lectin (1);Ricin B lectin (3);	0.086607	0.85682	D	0.000000	T	0.27594	0.0678	L	0.42245	1.32	0.80722	D	1	B;B	0.25169	0.119;0.029	B;B	0.19946	0.027;0.026	T	0.03112	-1.1071	10	0.41790	T	0.15	.	13.8584	0.63545	0.0:0.2773:0.7227:0.0	.	551;513	Q10471;G3V1S6	GALT2_HUMAN;.	N	513;551	ENSP00000445017:S513N;ENSP00000355632:S551N	ENSP00000355632:S551N	S	+	2	0	GALNT2	228481763	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	6.811000	0.75221	2.576000	0.86940	0.491000	0.48974	AGC		0.637	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		17	80	0	0	0	1	0	17	80				
PNMAL1	55228	broad.mit.edu	37	19	46973756	46973756	+	Silent	SNP	G	G	A	rs369461089		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:46973756G>A	ENST00000313683.10	-	2	842	c.537C>T	c.(535-537)gcC>gcT	p.A179A	PNMAL1_ENST00000438932.2_Silent_p.A179A|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	179										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CGAATTCAGCGGCCTCCTGGG	0.612																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(535-537)gcC>gcT		paraneoplastic Ma antigen family-like 1		G	,	0,4406		0,0,2203	56.0	61.0	59.0		537,537	-7.1	0.0	19		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PNMAL1	NM_001103149.1,NM_018215.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	179/379,179/440	46973756	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55228							g.chr19:46973756G>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.537C>T	19.37:g.46973756G>A						PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.A179A	p.A179A	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	842	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	179					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.537C>T	CCDS33059.1																																																																																				0.612	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		29	165	0	0	0	1	0	29	165				
BIRC6	57448	broad.mit.edu	37	2	32768426	32768426	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:32768426C>T	ENST00000421745.2	+	62	12544	c.12410C>T	c.(12409-12411)gCg>gTg	p.A4137V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4137					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAACTGTTGCGGCTGAACCT	0.473																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(12409-12411)gCg>gTg		baculoviral IAP repeat containing 6							264.0	237.0	246.0					2																	32768426		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32768426C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12410C>T	2.37:g.32768426C>T	ENSP00000393596:p.Ala4137Val						p.A4137V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			62	12544	+	Acute lymphoblastic leukemia(172;0.155)		4137					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12410C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485303	0.26598	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.54	5.54	0.83059	.	0.059220	0.64402	D	0.000003	T	0.56558	0.1993	N	0.14661	0.345	0.80722	D	1	P	0.46912	0.886	B	0.35607	0.206	T	0.58301	-0.7660	10	0.16896	T	0.51	.	19.4789	0.95000	0.0:1.0:0.0:0.0	.	4137	Q9NR09	BIRC6_HUMAN	V	4137	ENSP00000393596:A4137V	ENSP00000393596:A4137V	A	+	2	0	BIRC6	32621930	1.000000	0.71417	0.768000	0.31515	0.685000	0.39939	7.818000	0.86416	2.598000	0.87819	0.650000	0.86243	GCG		0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		52	220	0	0	0	1	0	52	220				
SPOCD1	90853	broad.mit.edu	37	1	32280787	32280787	+	Missense_Mutation	SNP	C	C	T	rs34615674		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:32280787C>T	ENST00000360482.2	-	2	277	c.148G>A	c.(148-150)Gga>Aga	p.G50R	SPOCD1_ENST00000373648.2_Missense_Mutation_p.G50R|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G50R|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	50					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCCCTGACTCCGGGCCCAGAG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17597	0.0		0.001	False		,,,				2504	0.0					ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(148-150)Gga>Aga		SPOC domain containing 1		C	ARG/GLY	0,4406		0,0,2203	27.0	29.0	29.0		148	-2.5	0.0	1	dbSNP_126	29	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SPOCD1	NM_144569.4	125	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	50/1217	32280787	6,13000	2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280787C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.148G>A	1.37:g.32280787C>T	ENSP00000353670:p.Gly50Arg					SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G50R|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G50R	p.G50R	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	277	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	50					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.148G>A	CCDS347.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.164	-1.078644	0.01903	0.0	6.98E-4	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.29397	2.05;1.57;2.05	3.37	-2.5	0.06384	.	.	.	.	.	T	0.10981	0.0268	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36286	-0.9754	9	0.05721	T	0.95	.	6.7855	0.23672	0.0:0.2918:0.2706:0.4376	rs34615674	50;50	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	R	50	ENSP00000353670:G50R;ENSP00000362752:G50R;ENSP00000435851:G50R	ENSP00000353670:G50R	G	-	1	0	SPOCD1	32053374	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.577000	0.05847	-0.499000	0.06623	-0.234000	0.12200	GGA		0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		9	33	0	0	0	1	0	9	33				
SDK1	221935	broad.mit.edu	37	7	4169591	4169591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:4169591C>T	ENST00000404826.2	+	27	4130	c.3991C>T	c.(3991-3993)Cga>Tga	p.R1331*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1331*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1331	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACATCGTGCGAGGGAACCA	0.652																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3991-3993)Cga>Tga		sidekick cell adhesion molecule 1							58.0	55.0	56.0					7																	4169591		2203	4300	6503	SO:0001587	stop_gained	221935				cell adhesion	integral to membrane		g.chr7:4169591C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3991C>T	7.37:g.4169591C>T	ENSP00000385899:p.Arg1331*					SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1331*	p.R1331*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	27	4130	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1331			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	c.3991C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	43	10.303299	0.99379	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.73	2.6	0.31112	.	0.158532	0.41605	D	0.000860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	3.6184	0.08086	0.4392:0.3661:0.1088:0.0859	.	.	.	.	X	1331	.	ENSP00000374182:R1331X	R	+	1	2	SDK1	4136117	1.000000	0.71417	0.771000	0.31576	0.712000	0.41017	3.749000	0.55150	0.746000	0.32786	0.655000	0.94253	CGA		0.652	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		23	99	0	0	0	1	0	23	99				
NUP155	9631	broad.mit.edu	37	5	37301542	37301542	+	Silent	SNP	A	A	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:37301542A>G	ENST00000231498.3	-	30	3761	c.3558T>C	c.(3556-3558)acT>acC	p.T1186T	NUP155_ENST00000513532.1_Silent_p.T1122T|NUP155_ENST00000381843.2_Silent_p.T1127T|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1186					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTATTACCTTAGTTATGTCCA	0.333																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(3556-3558)acT>acC		nucleoporin 155kDa							98.0	92.0	94.0					5																	37301542		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37301542A>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3558T>C	5.37:g.37301542A>G						NUP155_ENST00000381843.2_Silent_p.T1127T|NUP155_ENST00000513532.1_Silent_p.T1122T|NUP155_ENST00000502533.1_5'UTR	p.T1186T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		30	3761	-	all_lung(31;0.000137)		1186					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.3558T>C	CCDS3921.1																																																																																				0.333	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		11	92	0	0	0	1	0	11	92				
BRAP	8315	broad.mit.edu	37	12	112098426	112098426	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:112098426C>T	ENST00000327551.6	-	7	1000	c.860G>A	c.(859-861)tGt>tAt	p.C287Y	BRAP_ENST00000419234.4_Missense_Mutation_p.C317Y|BRAP_ENST00000539060.1_Missense_Mutation_p.C138Y			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	208					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACACTCAAAACACTTATTTTC	0.403																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(949-951)tGt>tAt		BRCA1 associated protein							163.0	155.0	158.0					12																	112098426		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112098426C>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.860G>A	12.37:g.112098426C>T	ENSP00000330813:p.Cys287Tyr					BRAP_ENST00000327551.6_Missense_Mutation_p.C287Y|BRAP_ENST00000539060.1_Missense_Mutation_p.C138Y	p.C317Y	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			7	1143	-			317					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.950G>A		.	.	.	.	.	.	.	.	.	.	C	25.4	4.632975	0.87660	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	D;D;D	0.96619	-4.07;-4.07;-4.07	5.14	5.14	0.70334	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.91635	0.99;0.999	D	0.98922	1.0784	10	0.87932	D	0	-10.4292	18.9406	0.92604	0.0:1.0:0.0:0.0	.	138;317	B4DRM1;Q7Z569	.;BRAP_HUMAN	Y	317;138;287;99	ENSP00000403524:C317Y;ENSP00000441659:C138Y;ENSP00000330813:C287Y	ENSP00000330813:C287Y	C	-	2	0	BRAP	110582809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.286000	0.78671	2.551000	0.86045	0.563000	0.77884	TGT		0.403	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			19	130	0	0	0	1	0	19	130				
PCDHA10	56139	broad.mit.edu	37	5	140237174	140237174	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:140237174G>A	ENST00000307360.5	+	1	1541	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G514D|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGCGGCAAGGTGTAC	0.697																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1540-1542)gGc>gAc									64.0	72.0	70.0					5																	140237174		2196	4272	6468	SO:0001583	missense	56139							g.chr5:140237174G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1541G>A	5.37:g.140237174G>A	ENSP00000304234:p.Gly514Asp					PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G514D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.G514D	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1541	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1541G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476835	0.63849	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	D;D	0.91464	-2.85;-2.85	3.63	3.63	0.41609	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.96864	0.8976	H	0.96833	3.89	0.48762	D	0.999703	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98442	1.0587	9	0.87932	D	0	.	15.8439	0.78871	0.0:0.0:1.0:0.0	.	514;514;514	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	D	514	ENSP00000421030:G514D;ENSP00000304234:G514D	ENSP00000304234:G514D	G	+	2	0	PCDHA10	140217358	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	5.807000	0.69157	2.007000	0.58848	0.561000	0.74099	GGC		0.697	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		48	191	0	0	0	1	0	48	191				
SDK1	221935	broad.mit.edu	37	7	4091385	4091385	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:4091385T>A	ENST00000404826.2	+	19	2973	c.2834T>A	c.(2833-2835)tTc>tAc	p.F945Y	SDK1_ENST00000389531.3_Missense_Mutation_p.F945Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	945	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCGCCTACTTCACTTCCGTT	0.562																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2833-2835)tTc>tAc		sidekick cell adhesion molecule 1							168.0	149.0	155.0					7																	4091385		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4091385T>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2834T>A	7.37:g.4091385T>A	ENSP00000385899:p.Phe945Tyr					SDK1_ENST00000389531.3_Missense_Mutation_p.F945Y	p.F945Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	2973	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	945			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2834T>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.362125	0.01235	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56444	0.46;0.46	5.62	4.35	0.52113	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.697226	0.14100	N	0.341425	T	0.26376	0.0644	N	0.04508	-0.205	0.25887	N	0.983527	B;B	0.09022	0.001;0.002	B;B	0.14023	0.005;0.01	T	0.07947	-1.0746	10	0.02654	T	1	.	11.6442	0.51250	0.1805:0.0:0.0:0.8195	.	945;945	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Y	945	ENSP00000385899:F945Y;ENSP00000374182:F945Y	ENSP00000374182:F945Y	F	+	2	0	SDK1	4057911	0.993000	0.37304	0.993000	0.49108	0.017000	0.09413	1.132000	0.31418	2.141000	0.66446	0.528000	0.53228	TTC		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		24	157	0	0	0	1	0	24	157				
EPPK1	83481	broad.mit.edu	37	8	144940786	144940786	+	Silent	SNP	C	C	T	rs569459584		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr8:144940786C>T	ENST00000525985.1	-	2	6707	c.6636G>A	c.(6634-6636)gaG>gaA	p.E2212E				P58107	EPIPL_HUMAN	epiplakin 1	2212						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTCGTCCTCCATGAGCT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16624	0.0		0.001	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6634-6636)gaG>gaA		epiplakin 1							145.0	149.0	147.0					8																	144940786		2045	4182	6227	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940786C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6636G>A	8.37:g.144940786C>T							p.E2212E			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6707	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2212					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6636G>A																																																																																					0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		38	282	0	0	0	1	0	38	282				
FSCB	84075	broad.mit.edu	37	14	44974862	44974862	+	Silent	SNP	T	T	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr14:44974862T>C	ENST00000340446.4	-	1	1620	c.1329A>G	c.(1327-1329)tcA>tcG	p.S443S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	443						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCATAGCTGTTGAAAGCTGAA	0.488																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1327-1329)tcA>tcG		fibrous sheath CABYR binding protein							21.0	22.0	22.0					14																	44974862		2177	4292	6469	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44974862T>C	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1329A>G	14.37:g.44974862T>C							p.S443S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1620	-			443					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1329A>G	CCDS9679.1																																																																																				0.488	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		3	30	0	0	0	1	0	3	30				
TNS4	84951	broad.mit.edu	37	17	38645178	38645178	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:38645178G>A	ENST00000254051.6	-	3	641	c.483C>T	c.(481-483)caC>caT	p.H161H		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	161					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGGGCCATCGTGGCACCTTG	0.592																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(481-483)caC>caT		tensin 4							48.0	57.0	54.0					17																	38645178		2201	4300	6501	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645178G>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.483C>T	17.37:g.38645178G>A							p.H161H	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	641	-		Breast(137;0.000496)	161					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.483C>T	CCDS11368.1																																																																																				0.592	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		46	52	0	0	0	1	0	46	52				
PCDHGB2	56103	broad.mit.edu	37	5	140742042	140742042	+	Silent	SNP	C	C	T	rs377414044		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:140742042C>T	ENST00000522605.1	+	1	2340	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	780					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAAGATCTCGTCTGTGACA	0.443																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(2338-2340)ctC>ctT									115.0	115.0	115.0					5																	140742042		1863	4102	5965	SO:0001819	synonymous_variant	56103							g.chr5:140742042C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2340C>T	5.37:g.140742042C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L780L	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2340	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.2340C>T	CCDS54924.1																																																																																				0.443	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		16	104	0	0	0	1	0	16	104				
PALLD	23022	broad.mit.edu	37	4	169433253	169433253	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:169433253C>T	ENST00000505667.1	+	2	771	c.598C>T	c.(598-600)Cca>Tca	p.P200S	PALLD_ENST00000333488.4_Missense_Mutation_p.P77S|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.P200S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	200					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCCTCGTCACCAGACAGTGG	0.512									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(598-600)Cca>Tca		palladin, cytoskeletal associated protein							135.0	147.0	143.0					4																	169433253		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433253C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.598C>T	4.37:g.169433253C>T	ENSP00000425556:p.Pro200Ser					PALLD_ENST00000505667.1_Missense_Mutation_p.P200S|PALLD_ENST00000333488.4_Missense_Mutation_p.P77S|PALLD_ENST00000335742.7_5'UTR	p.P200S	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	809	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	200					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.598C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237034	0.39498	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.66638	-0.09;0.18;-0.22;-0.05	5.55	5.55	0.83447	.	0.000000	0.31897	U	0.006893	T	0.77505	0.4140	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59424	0.857;0.857	T	0.72033	-0.4412	10	0.11794	T	0.64	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	200;200	B7ZMM5;B2RTX2	.;.	S	200;200;179;77	ENSP00000261509:P200S;ENSP00000425556:P200S;ENSP00000423063:P179S;ENSP00000328945:P77S	ENSP00000261509:P200S	P	+	1	0	PALLD	169669828	1.000000	0.71417	0.771000	0.31576	0.436000	0.31835	5.681000	0.68175	2.621000	0.88768	0.591000	0.81541	CCA		0.512	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		6	272	0	0	0	1	0	6	272				
OR7A5	26659	broad.mit.edu	37	19	14938849	14938849	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:14938849C>A	ENST00000322301.3	-	2	292	c.205G>T	c.(205-207)Gct>Tct	p.A69S	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.A69S			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	69					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CAAATGTCAGCAAAGGACAGG	0.498																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(205-207)Gct>Tct		olfactory receptor, family 7, subfamily A, member 5							161.0	144.0	150.0					19																	14938849		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938849C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.205G>T	19.37:g.14938849C>A	ENSP00000316955:p.Ala69Ser					OR7A5_ENST00000594432.1_Missense_Mutation_p.A69S|OR7A5_ENST00000601611.1_Intron	p.A69S			Q15622	OR7A5_HUMAN			2	292	-			69					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.205G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	8.280	0.815437	0.16607	.	.	ENSG00000188269	ENST00000322301	T	0.03004	4.08	3.13	-2.32	0.06745	GPCR, rhodopsin-like superfamily (1);	1.501620	0.05731	N	0.599576	T	0.02767	0.0083	L	0.28649	0.875	0.09310	N	1	B	0.33044	0.395	B	0.32677	0.15	T	0.41070	-0.9529	10	0.52906	T	0.07	.	0.4442	0.00491	0.3344:0.2881:0.1642:0.2134	.	69	Q15622	OR7A5_HUMAN	S	69	ENSP00000316955:A69S	ENSP00000316955:A69S	A	-	1	0	OR7A5	14799849	0.000000	0.05858	0.009000	0.14445	0.493000	0.33554	-3.445000	0.00468	-0.428000	0.07339	0.134000	0.15878	GCT		0.498	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		6	173	1	0	0.00307968	1	0.00313779	6	173				
RHD	6007	broad.mit.edu	37	1	25627441	25627441	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:25627441A>G	ENST00000328664.4	+	4	646	c.491A>G	c.(490-492)gAc>gGc	p.D164G	RHD_ENST00000568195.1_Missense_Mutation_p.D164G|RHD_ENST00000454452.2_Missense_Mutation_p.D164G|RHD_ENST00000342055.5_Missense_Mutation_p.D164G|RHD_ENST00000423810.2_Missense_Mutation_p.D164G|RHD_ENST00000357542.4_Missense_Mutation_p.D164G|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.D164G	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	164						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTGCAGACAGACTACCACATG	0.532																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(490-492)gAc>gGc		Rh blood group, D antigen							195.0	136.0	157.0					1																	25627441		2119	3755	5874	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25627441A>G	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.491A>G	1.37:g.25627441A>G	ENSP00000331871:p.Asp164Gly					RHD_ENST00000423810.2_Missense_Mutation_p.D164G|RHD_ENST00000454452.2_Missense_Mutation_p.D164G|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000357542.4_Missense_Mutation_p.D164G|RHD_ENST00000342055.5_Missense_Mutation_p.D164G|RHD_ENST00000568195.1_Missense_Mutation_p.D164G|RHD_ENST00000417538.2_Missense_Mutation_p.D164G	p.D164G	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	646	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	164					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.491A>G	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.387374	0.42308	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	3.95	1.44	0.22558	Ammonium transporter AmtB-like (3);	1.148320	0.06266	N	0.694782	T	0.71517	0.3349	M	0.68952	2.095	0.09310	N	1	P;P;P;P;B;B;P;P	0.47545	0.542;0.741;0.897;0.741;0.389;0.072;0.891;0.741	B;B;P;B;B;B;P;P	0.49192	0.388;0.388;0.6;0.388;0.232;0.043;0.602;0.489	T	0.53927	-0.8369	10	0.27082	T	0.32	-4.4962	4.3359	0.11087	0.6841:0.2012:0.1146:0.0	.	164;164;164;164;164;164;164;164	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	G	164	ENSP00000331871:D164G;ENSP00000413849:D164G;ENSP00000339577:D164G;ENSP00000350150:D164G;ENSP00000396420:D164G;ENSP00000399640:D164G	ENSP00000331871:D164G	D	+	2	0	RHD	25500028	0.022000	0.18835	0.000000	0.03702	0.043000	0.13939	2.196000	0.42686	0.049000	0.15920	0.324000	0.21423	GAC		0.532	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		23	145	0	0	0	1	0	23	145				
SLC9C1	285335	broad.mit.edu	37	3	111923180	111923180	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr3:111923180C>A	ENST00000305815.5	-	17	2309	c.2057G>T	c.(2056-2058)gGc>gTc	p.G686V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.G638V	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	686					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATGTAAGATGCCAATTAATGT	0.279																																						ENST00000305815.5																			0											c.(2056-2058)gGc>gTc		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							117.0	118.0	118.0					3																	111923180		2202	4296	6498	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111923180C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2057G>T	3.37:g.111923180C>A	ENSP00000306627:p.Gly686Val					SLC9C1_ENST00000487372.1_Missense_Mutation_p.G638V	p.G686V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			17	2309	-			686					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2057G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585308	0.46110	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.97279	-4.32;-4.32	5.58	1.62	0.23740	.	0.095679	0.46442	D	0.000300	D	0.97548	0.9197	M	0.82823	2.61	0.45330	D	0.998325	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.911	D	0.95224	0.8336	10	0.87932	D	0	.	2.5814	0.04819	0.1504:0.539:0.1458:0.1648	.	638;686	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	V	686;638	ENSP00000306627:G686V;ENSP00000420688:G638V	ENSP00000306627:G686V	G	-	2	0	SLC9A10	113405870	0.995000	0.38212	0.289000	0.24876	0.005000	0.04900	1.094000	0.30951	0.297000	0.22615	-0.521000	0.04368	GGC		0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		6	47	1	0	0.0381472	1	0.0381472	6	47				
C1orf112	55732	broad.mit.edu	37	1	169773286	169773286	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:169773286C>A	ENST00000286031.6	+	6	1083	c.383C>A	c.(382-384)gCc>gAc	p.A128D	C1orf112_ENST00000359326.4_Missense_Mutation_p.A128D|C1orf112_ENST00000456684.1_Missense_Mutation_p.A186D|C1orf112_ENST00000413811.2_Missense_Mutation_p.A99D|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	128										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAGGAGGCCTATTCTCTT	0.378																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(382-384)gCc>gAc		chromosome 1 open reading frame 112							120.0	116.0	117.0					1																	169773286		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169773286C>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.383C>A	1.37:g.169773286C>A	ENSP00000286031:p.Ala128Asp					C1orf112_ENST00000456684.1_Missense_Mutation_p.A186D|C1orf112_ENST00000359326.4_Missense_Mutation_p.A128D|C1orf112_ENST00000413811.2_Missense_Mutation_p.A99D|C1orf112_ENST00000498289.1_3'UTR	p.A128D	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			6	1083	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		128					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.383C>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916148	0.92178	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.67698	0.18;-0.28;0.18	4.84	4.84	0.62591	.	0.049010	0.85682	D	0.000000	T	0.79046	0.4380	M	0.77616	2.38	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.76071	0.956;0.987;0.986;0.976	T	0.82244	-0.0553	10	0.87932	D	0	-9.6353	16.8831	0.86068	0.0:1.0:0.0:0.0	.	99;70;128;186	B4E0A9;B4DGF2;Q9NSG2;B4DRP7	.;.;CA112_HUMAN;.	D	99;128;186;128	ENSP00000352276:A128D;ENSP00000415583:A186D;ENSP00000286031:A128D	ENSP00000286031:A128D	A	+	2	0	C1orf112	168039910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.327000	0.65881	2.390000	0.81377	0.591000	0.81541	GCC		0.378	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		7	72	1	0	0.00307968	1	0.00313779	7	72				
ZNF497	162968	broad.mit.edu	37	19	58868531	58868531	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:58868531G>A	ENST00000311044.3	-	3	659	c.471C>T	c.(469-471)agC>agT	p.S157S	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|ZNF497_ENST00000425453.3_Silent_p.S157S|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCTTCTCGCCGCTGTGGATGC	0.672																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(469-471)agC>agT		zinc finger protein 497							36.0	32.0	33.0					19																	58868531		2202	4299	6501	SO:0001819	synonymous_variant	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868531G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.471C>T	19.37:g.58868531G>A						ZNF497_ENST00000425453.3_Silent_p.S157S|CTD-2619J13.8_ENST00000599109.1_RNA	p.S157S	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	659	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	157					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Silent	SNP	ENST00000311044.3	37	c.471C>T	CCDS12977.1																																																																																				0.672	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		5	61	0	0	0	1	0	5	61				
SLCO6A1	133482	broad.mit.edu	37	5	101815931	101815931	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:101815931G>T	ENST00000506729.1	-	2	737	c.566C>A	c.(565-567)gCt>gAt	p.A189D	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A189D|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A189D|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A189D|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A189D			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGATGGAAAAGCACATAAAAG	0.308																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(565-567)gCt>gAt		solute carrier organic anion transporter family, member 6A1							87.0	90.0	89.0					5																	101815931		2203	4298	6501	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101815931G>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.566C>A	5.37:g.101815931G>T	ENSP00000421339:p.Ala189Asp					SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A189D|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A189D|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A189D|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A189D	p.A189D			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	737	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	189					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.566C>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293761	0.23564	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	4.46	2.54	0.30619	Major facilitator superfamily domain, general substrate transporter (1);	0.391477	0.23724	N	0.045197	D	0.90638	0.7064	M	0.87180	2.865	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.989;0.972;0.98	T	0.82882	-0.0237	10	0.72032	D	0.01	.	10.6323	0.45543	0.0:0.3792:0.6208:0.0	.	189;189;189	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	D	189	ENSP00000421339:A189D;ENSP00000369135:A189D;ENSP00000373671:A189D;ENSP00000421990:A189D;ENSP00000369138:A189D	ENSP00000369135:A189D	A	-	2	0	SLCO6A1	101843830	0.989000	0.36119	0.053000	0.19242	0.016000	0.09150	1.848000	0.39309	0.537000	0.28751	0.591000	0.81541	GCT		0.308	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		9	44	1	0	1.12685e-05	1	1.20495e-05	9	44				
TMEM168	64418	broad.mit.edu	37	7	112423832	112423832	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:112423832C>T	ENST00000312814.6	-	2	1609	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	TMEM168_ENST00000454074.1_Missense_Mutation_p.R350H	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCAAAAATGGCGCATCCCTTT	0.408																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(1048-1050)cGc>cAc		transmembrane protein 168							149.0	152.0	151.0					7																	112423832		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423832C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1049G>A	7.37:g.112423832C>T	ENSP00000323068:p.Arg350His					TMEM168_ENST00000454074.1_Missense_Mutation_p.R350H	p.R350H	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1609	-			350					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1049G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457948	0.84317	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000441474	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78846	-0.2043	9	0.87932	D	0	-19.8485	20.6593	0.99626	0.0:1.0:0.0:0.0	.	350	Q9H0V1	TM168_HUMAN	H	350;350;2	.	ENSP00000323068:R350H	R	-	2	0	TMEM168	112211068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.885000	0.99019	0.655000	0.94253	CGC		0.408	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		31	159	0	0	0	1	0	31	159				
TRIM36	55521	broad.mit.edu	37	5	114515698	114515698	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:114515698T>G	ENST00000282369.3	-	1	158	c.37A>C	c.(37-39)Atc>Ctc	p.I13L	TRIM36_ENST00000379617.2_Missense_Mutation_p.I13L|TRIM36_ENST00000379618.2_Missense_Mutation_p.I13L|TRIM36_ENST00000514154.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	13					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AATTCCATGATGTAGCCAAAT	0.572																																						ENST00000282369.3																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(37-39)Atc>Ctc		tripartite motif containing 36							115.0	117.0	116.0					5																	114515698		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114515698T>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.37A>C	5.37:g.114515698T>G	ENSP00000282369:p.Ile13Leu					TRIM36_ENST00000379618.2_Missense_Mutation_p.I13L|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000379617.2_Missense_Mutation_p.I13L	p.I13L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	1	158	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	13					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.37A>C	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462099	0.43736	.	.	ENSG00000152503	ENST00000282369;ENST00000379618;ENST00000379617	T	0.56103	0.48	4.38	4.38	0.52667	.	0.196582	0.38436	N	0.001695	T	0.51770	0.1694	L	0.29908	0.895	0.22888	N	0.998605	D;D;B	0.65815	0.995;0.986;0.01	P;P;B	0.61070	0.883;0.824;0.005	T	0.39121	-0.9629	10	0.15499	T	0.54	.	10.2592	0.43416	0.0:0.0:0.0:1.0	.	13;13;13	A6NDD0;Q0P5Z9;Q9NQ86	.;.;TRI36_HUMAN	L	13	ENSP00000282369:I13L	ENSP00000282369:I13L	I	-	1	0	TRIM36	114543597	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.134000	0.42102	1.735000	0.51646	0.460000	0.39030	ATC		0.572	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		12	112	0	0	0	1	0	12	112				
ZNF470	388566	broad.mit.edu	37	19	57089268	57089268	+	Missense_Mutation	SNP	C	C	T	rs143920172	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:57089268C>T	ENST00000330619.8	+	6	2157	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R491W	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	491					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)	p.R491W(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAAAGCTTTCCGGCAGAGCAC	0.453																																						ENST00000330619.8																			1	Substitution - Missense(1)	p.R491W(1)	prostate(1)	endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1471-1473)Cgg>Tgg		zinc finger protein 470		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	67.0	66.0		1471	0.7	1.0	19	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF470	NM_001001668.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	491/718	57089268	2,13004	2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089268C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1471C>T	19.37:g.57089268C>T	ENSP00000333223:p.Arg491Trp					ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R491W	p.R491W	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2157	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	491					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1471C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659868	0.47572	2.27E-4	1.16E-4	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08282	3.11;3.11	4.37	0.692	0.18050	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	L	0.38649	1.16	0.09310	N	0.999999	D	0.76494	0.999	D	0.68483	0.958	T	0.17930	-1.0353	9	0.51188	T	0.08	.	3.4016	0.07325	0.3046:0.4717:0.1289:0.0948	.	491	Q6ECI4	ZN470_HUMAN	W	491	ENSP00000375590:R491W;ENSP00000333223:R491W	ENSP00000333223:R491W	R	+	1	2	ZNF470	61781080	0.000000	0.05858	0.998000	0.56505	0.919000	0.55068	-3.460000	0.00463	0.436000	0.26393	0.650000	0.86243	CGG		0.453	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		34	68	0	0	0	1	0	34	68				
KCNH4	23415	broad.mit.edu	37	17	40321521	40321521	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:40321521C>T	ENST00000264661.3	-	9	1896	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	KCNH4_ENST00000607371.1_Missense_Mutation_p.V522I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	522					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V522I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGCTGTTGACGGCCCACGTG	0.652																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			1	Substitution - Missense(1)	p.V522I(1)	endometrium(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1564-1566)Gtc>Atc		potassium voltage-gated channel, subfamily H (eag-related), member 4							75.0	70.0	72.0					17																	40321521		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321521C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1564G>A	17.37:g.40321521C>T	ENSP00000264661:p.Val522Ile					KCNH4_ENST00000607371.1_Missense_Mutation_p.V522I	p.V522I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1896	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	522						Missense_Mutation	SNP	ENST00000264661.3	37	c.1564G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496639	0.64186	.	.	ENSG00000089558	ENST00000264661	D	0.96587	-4.06	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.35151	N	0.003409	D	0.91851	0.7421	N	0.17474	0.49	0.52501	D	0.999955	B	0.12013	0.005	B	0.10450	0.005	D	0.88545	0.3112	10	0.39692	T	0.17	.	16.6694	0.85261	0.0:1.0:0.0:0.0	.	522	Q9UQ05	KCNH4_HUMAN	I	522	ENSP00000264661:V522I	ENSP00000264661:V522I	V	-	1	0	KCNH4	37575047	1.000000	0.71417	0.926000	0.36857	0.963000	0.63663	5.876000	0.69667	2.148000	0.66965	0.462000	0.41574	GTC		0.652	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		13	68	0	0	0	1	0	13	68				
TXNDC16	57544	broad.mit.edu	37	14	52985898	52985898	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr14:52985898C>T	ENST00000281741.4	-	7	877	c.506G>A	c.(505-507)gGa>gAa	p.G169E	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	169					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCTGGTATTCCAATGGCTCT	0.323																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(505-507)gGa>gAa		thioredoxin domain containing 16							83.0	88.0	86.0					14																	52985898		2202	4288	6490	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52985898C>T	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.506G>A	14.37:g.52985898C>T	ENSP00000281741:p.Gly169Glu					TXNDC16_ENST00000554399.1_Intron	p.G169E	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			7	877	-	Breast(41;0.0716)		169					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.506G>A	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718556	0.68844	.	.	ENSG00000087301	ENST00000281741	T	0.39406	1.08	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.72894	2.215	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68017	-0.5520	10	0.87932	D	0	-31.6501	16.6369	0.85061	0.0:1.0:0.0:0.0	.	164;169	B7ZME4;Q9P2K2	.;TXD16_HUMAN	E	169	ENSP00000281741:G169E	ENSP00000281741:G169E	G	-	2	0	TXNDC16	52055648	1.000000	0.71417	0.999000	0.59377	0.638000	0.38207	5.264000	0.65513	2.523000	0.85059	0.655000	0.94253	GGA		0.323	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		7	31	0	0	0	1	0	7	31				
KCTD19	146212	broad.mit.edu	37	16	67333330	67333330	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:67333330C>T	ENST00000304372.5	-	6	977	c.922G>A	c.(922-924)Gag>Aag	p.E308K	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	308					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGCGTGCTCTCGATGCGAAGC	0.607																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(922-924)Gag>Aag		potassium channel tetramerization domain containing 19							90.0	97.0	94.0					16																	67333330		2101	4221	6322	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333330C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.922G>A	16.37:g.67333330C>T	ENSP00000305702:p.Glu308Lys					KCTD19_ENST00000562860.1_5'UTR	p.E308K	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	977	-		Ovarian(137;0.192)	308					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.922G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224009	0.95139	.	.	ENSG00000168676	ENST00000304372	T	0.61274	0.12	5.77	5.77	0.91146	.	0.097007	0.46442	D	0.000285	T	0.51058	0.1652	N	0.22421	0.69	0.37706	D	0.924392	D	0.67145	0.996	P	0.50490	0.642	T	0.45352	-0.9267	10	0.11182	T	0.66	-25.6849	17.0645	0.86556	0.0:1.0:0.0:0.0	.	308	Q17RG1	KCD19_HUMAN	K	308	ENSP00000305702:E308K	ENSP00000305702:E308K	E	-	1	0	KCTD19	65890831	0.990000	0.36364	0.991000	0.47740	0.923000	0.55619	3.114000	0.50383	2.884000	0.98904	0.655000	0.94253	GAG		0.607	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		26	123	0	0	0	1	0	26	123				
THOP1	7064	broad.mit.edu	37	19	2805086	2805086	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr19:2805086A>G	ENST00000307741.6	+	6	865	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	THOP1_ENST00000586677.1_Missense_Mutation_p.Y100C	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	221					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		ACCCTCAAGTACCCCCATTAC	0.577																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(661-663)tAc>tGc		thimet oligopeptidase 1							76.0	56.0	63.0					19																	2805086		2197	4299	6496	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2805086A>G		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.662A>G	19.37:g.2805086A>G	ENSP00000304467:p.Tyr221Cys					THOP1_ENST00000586677.1_Missense_Mutation_p.Y100C	p.Y221C	NM_003249.3	NP_003240.1	P52888	THOP1_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)	6	865	+			221					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.662A>G	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	a	18.74	3.687731	0.68157	.	.	ENSG00000172009	ENST00000307741	T	0.08807	3.05	4.16	4.16	0.48862	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51513	-0.8696	10	0.72032	D	0.01	-39.8477	12.0132	0.53299	1.0:0.0:0.0:0.0	.	100;221	B4DU96;P52888	.;THOP1_HUMAN	C	221	ENSP00000304467:Y221C	ENSP00000304467:Y221C	Y	+	2	0	THOP1	2756086	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.652000	0.91083	1.518000	0.48934	0.398000	0.26397	TAC		0.577	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			7	39	0	0	0	1	0	7	39				
OR6C65	403282	broad.mit.edu	37	12	55795015	55795015	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:55795015G>T	ENST00000379665.2	+	1	802	c.703G>T	c.(703-705)Gct>Tct	p.A235S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AAGGAAAAAGGCTTTTTCAAC	0.393																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(703-705)Gct>Tct		olfactory receptor, family 6, subfamily C, member 65							143.0	134.0	137.0					12																	55795015		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795015G>T		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.703G>T	12.37:g.55795015G>T	ENSP00000368986:p.Ala235Ser						p.A235S	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	802	+			235					B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.703G>T	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698768	0.48307	.	.	ENSG00000205328	ENST00000379665	T	0.00359	7.87	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	U	0.001350	T	0.01254	0.0041	H	0.94734	3.575	0.27457	N	0.953272	D	0.89917	1.0	D	0.85130	0.997	T	0.07139	-1.0788	10	0.72032	D	0.01	.	15.6375	0.76966	0.0:0.0:1.0:0.0	.	235	A6NJZ3	O6C65_HUMAN	S	235	ENSP00000368986:A235S	ENSP00000368986:A235S	A	+	1	0	OR6C65	54081282	1.000000	0.71417	0.950000	0.38849	0.290000	0.27261	4.389000	0.59639	2.076000	0.62316	0.424000	0.28305	GCT		0.393	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			26	69	1	0	4.26978e-12	1	4.75398e-12	26	69				
POM121L9P	29774	broad.mit.edu	37	22	24656959	24656959	+	RNA	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr22:24656959G>A	ENST00000414583.2	+	0	2032					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCTCAGGGAGGGAGTGACCTC	0.627																																						ENST00000414583.2																			0																																																			29774							g.chr22:24656959G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24656959G>A								NR_003714.1						0	2032	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.627	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	4	0	0	0	1	0	4	4				
CLDN10	9071	broad.mit.edu	37	13	96212437	96212437	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr13:96212437T>C	ENST00000299339.2	+	2	301	c.272T>C	c.(271-273)tTc>tCc	p.F91S	CLDN10_ENST00000376855.1_Missense_Mutation_p.F9S|CLDN10_ENST00000376873.3_Missense_Mutation_p.F89S	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	91					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|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)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AGCCTGGGCTTCTTTGGTTCC	0.438																																						ENST00000376873.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15						c.(265-267)tTc>tCc		claudin 10							150.0	131.0	137.0					13																	96212437		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96212437T>C	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.272T>C	13.37:g.96212437T>C	ENSP00000299339:p.Phe91Ser					CLDN10_ENST00000299339.2_Missense_Mutation_p.F91S|CLDN10_ENST00000376855.1_Missense_Mutation_p.F9S	p.F89S	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		2	496	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		91					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.266T>C	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569535	0.86439	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.89196	-2.48;-2.48;-2.48	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	M	0.71036	2.16	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.828	D;D;P	0.87578	0.998;0.998;0.58	D	0.92631	0.6116	10	0.33141	T	0.24	.	16.0755	0.80965	0.0:0.0:0.0:1.0	.	91;91;89	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	S	89;91;9	ENSP00000366069:F89S;ENSP00000299339:F91S;ENSP00000366051:F9S	ENSP00000299339:F91S	F	+	2	0	CLDN10	95010438	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.955000	0.70306	2.182000	0.69389	0.528000	0.53228	TTC		0.438	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		16	58	0	0	0	1	0	16	58				
CFH	3075	broad.mit.edu	37	1	196658607	196658607	+	Missense_Mutation	SNP	G	G	A	rs371192606		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:196658607G>A	ENST00000359637.2	+	7	892	c.830G>A	c.(829-831)cGt>cAt	p.R277H	CFH_ENST00000439155.2_Missense_Mutation_p.R341H|CFH_ENST00000367429.4_Missense_Mutation_p.R341H			P08603	CFAH_HUMAN	complement factor H	341	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R341H(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAATATGCGTAGACCATAC	0.333																																						ENST00000367429.4																			2	Substitution - Missense(2)	p.R341H(2)	urinary_tract(1)|large_intestine(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1021-1023)cGt>cAt		complement factor H		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	95.0	91.0	92.0		1022,1022	-0.8	0.0	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CFH	NM_000186.3,NM_001014975.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	341/1232,341/450	196658607	1,13005	2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658607G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.830G>A	1.37:g.196658607G>A	ENSP00000352658:p.Arg277His					CFH_ENST00000359637.2_Missense_Mutation_p.R277H|CFH_ENST00000439155.2_Missense_Mutation_p.R341H	p.R341H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1262	+			341			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1022G>A		.	.	.	.	.	.	.	.	.	.	G	15.05	2.718164	0.48622	0.0	1.16E-4	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.72282	-0.64;-0.64;-0.64	5.61	-0.758	0.11049	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.75561	0.3866	M	0.65975	2.015	0.09310	N	1	D;B;D	0.76494	0.999;0.006;0.981	D;B;P	0.70935	0.971;0.003;0.641	T	0.61544	-0.7041	9	0.37606	T	0.19	.	2.8522	0.05561	0.4256:0.0:0.2655:0.3089	.	277;341;341	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	H	341;341;341;277	ENSP00000356399:R341H;ENSP00000402656:R341H;ENSP00000352658:R277H	ENSP00000352658:R277H	R	+	2	0	CFH	194925230	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.799000	0.04560	-0.079000	0.12707	-0.302000	0.09304	CGT		0.333	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		10	60	0	0	0	1	0	10	60				
PRDM9	56979	broad.mit.edu	37	5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A	rs375716818		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(229-231)cGa>cAa		PR domain containing 9		G	GLN/ARG	2,3722		0,2,1860	79.0	75.0	76.0		230	0.5	0.5	5		76	0,8212		0,0,4106	no	missense	PRDM9	NM_020227.2	43	0,2,5966	AA,AG,GG		0.0,0.0537,0.0168	benign	77/895	23510065	2,11934	1862	4106	5968	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510065G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.230G>A	5.37:g.23510065G>A	ENSP00000296682:p.Arg77Gln	HNSCC(3;0.000094)					p.R77Q	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			4	412	+			77			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.230G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526064	0.27299	5.37E-4	0.0	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.00792	5.69;5.69	3.79	0.473	0.16763	Krueppel-associated box (2);Krueppel-associated box-related (1);	.	.	.	.	T	0.00580	0.0019	N	0.24115	0.695	0.09310	N	1	B	0.26845	0.161	B	0.12156	0.007	T	0.45160	-0.9280	9	0.14252	T	0.57	2.4103	5.9073	0.19008	0.4259:0.0:0.5741:0.0	.	77	Q9NQV7	PRDM9_HUMAN	Q	77	ENSP00000425471:R77Q;ENSP00000296682:R77Q	ENSP00000296682:R77Q	R	+	2	0	PRDM9	23545822	0.696000	0.27757	0.530000	0.27963	0.941000	0.58515	0.639000	0.24690	-0.005000	0.14395	0.609000	0.83330	CGA		0.468	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		8	98	0	0	0	1	0	8	98				
SEMA3A	10371	broad.mit.edu	37	7	83758445	83758445	+	Silent	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:83758445G>A	ENST00000265362.4	-	3	641	c.327C>T	c.(325-327)gaC>gaT	p.D109D	SEMA3A_ENST00000436949.1_Silent_p.D109D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTACCAGGATGTCTTTTCCAG	0.353																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(325-327)gaC>gaT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							134.0	122.0	126.0					7																	83758445		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83758445G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.327C>T	7.37:g.83758445G>A						SEMA3A_ENST00000436949.1_Silent_p.D109D	p.D109D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			3	641	-			109			Sema.			Silent	SNP	ENST00000265362.4	37	c.327C>T	CCDS5599.1																																																																																				0.353	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		13	71	0	0	0	1	0	13	71				
NAT8	9027	broad.mit.edu	37	2	73868607	73868607	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:73868607G>A	ENST00000272425.3	-	2	298	c.149C>T	c.(148-150)cCc>cTc	p.P50L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TAGGGCGAGGGGCCCCCCAAG	0.612																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(148-150)cCc>cTc		N-acetyltransferase 8 (GCN5-related, putative)							75.0	89.0	84.0					2																	73868607		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868607G>A	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.149C>T	2.37:g.73868607G>A	ENSP00000272425:p.Pro50Leu						p.P50L	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	298	-			50						Missense_Mutation	SNP	ENST00000272425.3	37	c.149C>T	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170374	0.21621	.	.	ENSG00000144035	ENST00000272425	T	0.29397	1.57	3.86	0.953	0.19590	.	0.274234	0.36002	N	0.002853	T	0.21062	0.0507	L	0.55213	1.73	0.09310	N	0.999999	B	0.21520	0.057	B	0.21708	0.036	T	0.13495	-1.0507	10	0.20519	T	0.43	-24.7421	2.7327	0.05231	0.245:0.0:0.5272:0.2277	.	50	Q9UHE5	NAT8_HUMAN	L	50	ENSP00000272425:P50L	ENSP00000272425:P50L	P	-	2	0	NAT8	73722115	0.006000	0.16342	0.002000	0.10522	0.012000	0.07955	1.148000	0.31614	0.369000	0.24510	-0.195000	0.12781	CCC		0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		26	49	0	0	0	1	0	26	49				
LPHN3	23284	broad.mit.edu	37	4	62910180	62910180	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr4:62910180C>T	ENST00000514591.1	+	24	3852	c.3523C>T	c.(3523-3525)Cgt>Tgt	p.R1175C	LPHN3_ENST00000545650.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000512091.2_Missense_Mutation_p.R1175C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1153					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGCCGAATCCGTAGAATGTG	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3523-3525)Cgt>Tgt		latrophilin 3							52.0	51.0	51.0					4																	62910180		1912	4121	6033	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62910180C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3523C>T	4.37:g.62910180C>T	ENSP00000422533:p.Arg1175Cys					LPHN3_ENST00000507625.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1234C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1243C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1175C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1166C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R1175C	p.R1175C			Q9HAR2	LPHN3_HUMAN			24	4270	+			1153					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3523C>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.61|17.61	3.432321|3.432321	0.62844|0.62844	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.78246	.|-0.73;-0.86;-0.74;-0.73;-0.71;-0.86;-0.85;-0.87;-0.86;-0.83;-0.84;-1.12;-1.16;-1.14;-1.09	6.08|6.08	6.08|6.08	0.98989|0.98989	.|GPCR, family 2, latrophilin, C-terminal (1);	.|0.056519	.|0.64402	.|D	.|0.000001	D|D	0.86875|0.86875	0.6038|0.6038	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.997	D|D	0.87219|0.87219	0.2252|0.2252	5|10	.|0.87932	.|D	.|0	.|.	15.3887|15.3887	0.74726|0.74726	0.1392:0.8608:0.0:0.0|0.1392:0.8608:0.0:0.0	.|.	.|1175;1153;1175	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	L|C	623|1175;1175;1243;1234;1166;1175;1153;1175;1234;1243;1234;1166;1175;1175;1243;1234;1166	.|ENSP00000423388:R1175C;ENSP00000422533:R1175C;ENSP00000423787:R1243C;ENSP00000425033:R1234C;ENSP00000424120:R1166C;ENSP00000439831:R1175C;ENSP00000421476:R1234C;ENSP00000424030:R1243C;ENSP00000421372:R1234C;ENSP00000425201:R1166C;ENSP00000423434:R1175C;ENSP00000421627:R1175C;ENSP00000420931:R1243C;ENSP00000425884:R1234C;ENSP00000424258:R1166C	.|ENSP00000280009:R1175C	P|R	+|+	2|1	0|0	LPHN3|LPHN3	62592775|62592775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.387000|0.387000	0.30353|0.30353	4.529000|4.529000	0.60588|0.60588	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			6	10	0	0	0	1	0	6	10				
FCGR1B	2210	broad.mit.edu	37	1	120927141	120927141	+	Missense_Mutation	SNP	G	G	A	rs374613252		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr1:120927141G>A	ENST00000369384.4	-	5	881	c.839C>T	c.(838-840)aCg>aTg	p.T280M	FCGR1B_ENST00000369383.4_Missense_Mutation_p.T188M|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000472543.1_5'Flank	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	280					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	CCGCTGCTACGTGGCCCCCTG	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16460	0.0		0.0	False		,,,				2504	0.0					ENST00000369384.4																			0				breast(1)|endometrium(1)|lung(2)	4						c.(838-840)aCg>aTg		Fc fragment of IgG, high affinity Ib, receptor (CD64)		G	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	51.0	53.0	52.0		839,563	-3.5	0.0	1		52	0,8596		0,0,4298	no	missense,missense	FCGR1B	NM_001017986.2,NM_001004340.2	81,81	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	280/281,188/189	120927141	1,12997	2201	4298	6499	SO:0001583	missense	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120927141G>A		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3614	protein-coding gene	gene with protein product		601502	"""Fc fragment of IgG, high affinity Ib, receptor for (CD64)"""			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.839C>T	1.37:g.120927141G>A	ENSP00000358391:p.Thr280Met					RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Missense_Mutation_p.T188M	p.T280M	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	881	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	280					Q7KZ13|Q92638	Missense_Mutation	SNP	ENST00000369384.4	37	c.839C>T	CCDS30821.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239995	0.22711	2.27E-4	0.0	ENSG00000198019	ENST00000369384;ENST00000369383	T;T	0.05717	4.65;3.4	1.73	-3.45	0.04781	.	11.132600	0.00357	N	0.000031	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.04013	0.001;0.0	T	0.43343	-0.9397	10	0.87932	D	0	.	0.6525	0.00829	0.2097:0.3523:0.1947:0.2434	.	188;280	Q92637-3;Q92637	.;FCGRB_HUMAN	M	280;188	ENSP00000358391:T280M;ENSP00000358390:T188M	ENSP00000358390:T188M	T	-	2	0	FCGR1B	120728664	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.144000	0.00585	-1.587000	0.01630	-1.594000	0.00841	ACG		0.542	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			10	76	0	0	0	1	0	10	76				
PEX12	5193	broad.mit.edu	37	17	33904241	33904241	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:33904241C>A	ENST00000225873.4	-	2	1103	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	166					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCATGTTCACAAATGGGTAG	0.483																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(496-498)Gtg>Ttg		peroxisomal biogenesis factor 12							76.0	75.0	76.0					17																	33904241		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904241C>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.496G>T	17.37:g.33904241C>A	ENSP00000225873:p.Val166Leu						p.V166L	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1103	-			166					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.496G>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091295	0.36855	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	T	0.81330	-1.48	5.63	5.63	0.86233	Pex, N-terminal (1);	0.176511	0.49916	D	0.000134	T	0.67942	0.2947	L	0.28458	0.855	0.49299	D	0.999771	B	0.13145	0.007	B	0.21151	0.033	T	0.60944	-0.7162	10	0.02654	T	1	-18.4057	13.9818	0.64310	0.0:0.9251:0.0:0.0749	.	166	O00623	PEX12_HUMAN	L	166	ENSP00000225873:V166L	ENSP00000225873:V166L	V	-	1	0	PEX12	30928354	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.669000	0.46825	2.651000	0.90000	0.650000	0.86243	GTG		0.483	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		34	31	1	0	8.53417e-09	1	9.31001e-09	34	31				
CACNA1H	8912	broad.mit.edu	37	16	1257353	1257353	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr16:1257353G>A	ENST00000348261.5	+	14	3234	c.2986G>A	c.(2986-2988)Gtg>Atg	p.V996M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V996M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V996M|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	996					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTCTACTTCGTGGCCCTCAT	0.647																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2986-2988)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						39.0	41.0	40.0					16																	1257353		2056	4196	6252	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1257353G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2986G>A	16.37:g.1257353G>A	ENSP00000334198:p.Val996Met					CACNA1H_ENST00000358590.4_Missense_Mutation_p.V996M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V996M	p.V996M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			14	3234	+		Hepatocellular(780;0.00369)	996					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2986G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444314	0.63178	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98901	-5.22;-5.22	3.3	2.34	0.29019	Ion transport (1);	0.222920	0.37095	N	0.002250	D	0.98801	0.9596	M	0.77712	2.385	0.36388	D	0.862352	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99941	1.1414	10	0.87932	D	0	.	10.9301	0.47213	0.0:0.0:0.8111:0.1889	.	996;996	O95180-2;O95180	.;CAC1H_HUMAN	M	996	ENSP00000334198:V996M;ENSP00000351401:V996M	ENSP00000334198:V996M	V	+	1	0	CACNA1H	1197354	1.000000	0.71417	0.996000	0.52242	0.783000	0.44284	4.631000	0.61304	0.616000	0.30141	-0.226000	0.12346	GTG		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	22	0	0	0	1	0	4	22				
PRKCA	5578	broad.mit.edu	37	17	64684445	64684445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:64684445C>T	ENST00000413366.3	+	7	738	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	238	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	AGACAAAGACCGACGACTGTC	0.448																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(712-714)Cga>Tga		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						139.0	130.0	133.0					17																	64684445		2203	4300	6503	SO:0001587	stop_gained	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684445C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.712C>T	17.37:g.64684445C>T	ENSP00000408695:p.Arg238*						p.R238*	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	738	+			238			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Nonsense_Mutation	SNP	ENST00000413366.3	37	c.712C>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520080	0.96416	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	.	.	.	5.2	4.17	0.49024	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7448	0.62868	0.2965:0.7035:0.0:0.0	.	.	.	.	X	238;145	.	ENSP00000284384:R145X	R	+	1	2	PRKCA	62114907	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.243000	0.43115	2.580000	0.87095	0.555000	0.69702	CGA		0.448	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			7	66	0	0	0	1	0	7	66				
TNS1	7145	broad.mit.edu	37	2	218683176	218683176	+	Silent	SNP	A	A	G			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr2:218683176A>G	ENST00000171887.4	-	24	4019	c.3567T>C	c.(3565-3567)acT>acC	p.T1189T	TNS1_ENST00000430930.1_Silent_p.T1168T|TNS1_ENST00000419504.1_Silent_p.T1176T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1189					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTAGGGGGAGTGTTGGTGC	0.647																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3565-3567)acT>acC		tensin 1							59.0	64.0	63.0					2																	218683176		2203	4300	6503	SO:0001819	synonymous_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683176A>G	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3567T>C	2.37:g.218683176A>G						TNS1_ENST00000430930.1_Silent_p.T1168T|TNS1_ENST00000419504.1_Silent_p.T1176T	p.T1189T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4019	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1189					Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	c.3567T>C	CCDS2407.1																																																																																				0.647	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		4	123	0	0	0	1	0	4	123				
CABYR	26256	broad.mit.edu	37	18	21735867	21735867	+	Silent	SNP	G	G	C	rs144981165		TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr18:21735867G>C	ENST00000399496.3	+	4	567	c.402G>C	c.(400-402)acG>acC	p.T134T	CABYR_ENST00000415309.2_Silent_p.T134T|CABYR_ENST00000399481.2_Silent_p.T36T|CABYR_ENST00000399499.1_Silent_p.T134T|CABYR_ENST00000327201.6_Silent_p.T36T|CABYR_ENST00000581397.1_Silent_p.T134T	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	134					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGAGCAAACGGAAGCAGTTG	0.493																																						ENST00000399481.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(106-108)acG>acC		calcium binding tyrosine-(Y)-phosphorylation regulated							134.0	105.0	115.0					18																	21735867		2203	4300	6503	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735867G>C	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.402G>C	18.37:g.21735867G>C						CABYR_ENST00000581397.1_Silent_p.T134T|CABYR_ENST00000415309.2_Silent_p.T134T|CABYR_ENST00000399496.3_Silent_p.T134T|CABYR_ENST00000399499.1_Silent_p.T134T|CABYR_ENST00000327201.6_Silent_p.T36T	p.T36T			O75952	CABYR_HUMAN			2	260	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		134			RIIa.		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	37	c.108G>C	CCDS42420.1																																																																																				0.493	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		19	82	0	0	0	1	0	19	82				
CA10	56934	broad.mit.edu	37	17	49710999	49710999	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr17:49710999G>A	ENST00000285273.4	-	9	1913	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000451037.2_Missense_Mutation_p.R268C	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	268					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	CTGAGCAGGCGCAAGGAATGC	0.512																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(802-804)Cgc>Tgc		carbonic anhydrase X							83.0	72.0	76.0					17																	49710999		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49710999G>A	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.802C>T	17.37:g.49710999G>A	ENSP00000285273:p.Arg268Cys					CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000285273.4_Missense_Mutation_p.R268C|CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C	p.R268C	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		8	1742	-			268					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.802C>T	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995344	0.74703	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.44	3.27	0.37495	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.057228	0.64402	N	0.000002	D	0.85199	0.5642	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85392	0.1126	10	0.87932	D	0	.	6.7148	0.23296	0.0862:0.0:0.6211:0.2928	.	268;274;193	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	C	268;268;268;274	ENSP00000390666:R268C;ENSP00000285273:R268C;ENSP00000405388:R268C;ENSP00000340363:R274C	ENSP00000285273:R268C	R	-	1	0	CA10	47065998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.046000	0.49846	1.234000	0.43709	0.655000	0.94253	CGC		0.512	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		29	33	0	0	0	1	0	29	33				
TRIM56	81844	broad.mit.edu	37	7	100732306	100732307	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr7:100732306_100732307delTC	ENST00000306085.6	+	3	2010_2011	c.1713_1714delTC	c.(1711-1716)tatctcfs	p.L572fs		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	572					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGGCTCTATCTCATCAACCC	0.708																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1711-1716)tatcfs		tripartite motif containing 56																																				SO:0001589	frameshift_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732306_100732307delTC	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1713_1714delTC	7.37:g.100732308_100732309delTC	ENSP00000305161:p.Leu572fs						p.YL571fs	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2010_2011	+	Lung NSC(181;0.136)|all_lung(186;0.182)		571					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Frame_Shift_Del	DEL	ENST00000306085.6	37	c.1713_1714delTC	CCDS43625.1																																																																																				0.708	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		22	303						22	303	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974696	21974697	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:21974696_21974697insA	ENST00000304494.5	-	1	400_401	c.130_131insT	c.(130-132)tacfs	p.Y44fs	CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.Y44fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.Y44fs|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCGACCGTAACTATTCGGT	0.688		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1344	Whole gene deletion(1316)|Unknown(25)|Substitution - Missense(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(130-132)cggfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974696_21974697insA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.131dupT	9.37:g.21974698_21974698dupA	ENSP00000307101:p.Tyr44fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.R44fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.R44fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	p.R44fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	400_401	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	44					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.130_131insT	CCDS6510.1																																																																																				0.688	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		43	199						43	199	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974725	21974742	+	In_Frame_Del	DEL	CGCCTCCAGCAGCGCCCG	CGCCTCCAGCAGCGCCCG	-	rs540871544	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:21974725_21974742delCGCCTCCAGCAGCGCCCG	ENST00000304494.5	-	1	355_372	c.85_102delCGGGCGCTGCTGGAGGCG	c.(85-102)cgggcgctgctggaggcgdel	p.RALLEA29del	CDKN2A_ENST00000446177.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.RALLEA29del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	29					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.A34V(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.A30A(2)|p.G35fs*13(1)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.L31P(1)|p.A34A(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.A36fs*8(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCT	0.734		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1368	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(10)|Substitution - Missense(10)|Deletion - Frameshift(3)|Substitution - coding silent(3)|Substitution - Nonsense(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.A34V(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.A30A(2)|p.G35fs*13(1)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.L31P(1)|p.A34A(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.A36fs*8(1)	haematopoietic_and_lymphoid_tissue(279)|skin(172)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(58)|oesophagus(57)|upper_aerodigestive_tract(53)|pleura(52)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|liver(8)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972118|CM950225	CDKN2A	D|M		c.(85-102)del		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974725_21974742delCGCCTCCAGCAGCGCCCG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.85_102delCGGGCGCTGCTGGAGGCG	9.37:g.21974725_21974742delCGCCTCCAGCAGCGCCCG	ENSP00000307101:p.Arg29_Ala34del	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.RALLEA29del|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.RALLEA29del|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	p.RALLEA29del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	355_372	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	29					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.85_102delCGGGCGCTGCTGGAGGCG	CCDS6510.1																																																																																				0.734	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	161						21	161	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			158314							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			5	6						5	6	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185305	57185308	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr11:57185305_57185308delCAGA	ENST00000395123.2	-	8	888_891	c.584_587delTCTG	c.(583-588)gtctgcfs	p.VC195fs	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000529554.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000352187.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000533524.1_Frame_Shift_Del_p.VC208fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	195					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGGTACTGCAGACAGAGATGAA	0.525																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(583-588)gcfs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185305_57185308delCAGA	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.584_587delTCTG	11.37:g.57185309_57185312delCAGA	ENSP00000378555:p.Val195fs					SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000352187.1_Frame_Shift_Del_p.VC195fs|SLC43A3_ENST00000533524.1_Frame_Shift_Del_p.VC208fs|SLC43A3_ENST00000395124.1_Frame_Shift_Del_p.VC195fs	p.VC195fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			8	888_891	-			195					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Del	DEL	ENST00000395123.2	37	c.584_587delTCTG	CCDS7956.1																																																																																				0.525	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		9	88						9	88	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52910505	52910506	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr12:52910505_52910506insCA	ENST00000252242.4	-	7	1744_1745	c.1354_1355insTG	c.(1354-1356)gagfs	p.E452fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	452	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCTGGTACTCACGCAGCAGC	0.634																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1354-1356)gtafs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910505_52910506insCA		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1353_1354dupTG	12.37:g.52910506_52910507dupCA	ENSP00000252242:p.Glu452fs						p.V452fs	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1744_1745	-			452			Coil 2.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Ins	INS	ENST00000252242.4	37	c.1354_1355insTG	CCDS8830.1																																																																																				0.634	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			32	211						32	211	---	---	---	---
INTS6-AS1	100507398	broad.mit.edu	37	13	52035523	52035524	+	RNA	INS	-	-	A			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr13:52035523_52035524insA	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000595424.1_RNA					INTS6 antisense RNA 1																		AGCAAAAAAAGAAAAAAAAATC	0.361																																						ENST00000594959.1																			0																																																			100507398							g.chr13:52035523_52035524insA	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035532_52035532dupA						INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000434512.1_RNA								0	411	+									RNA	INS	ENST00000594959.1	37																																																																																						0.361	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			2	4						2	4	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A5QA-01A-11D-A28R-08	TCGA-P3-A5QA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df5a650-5904-4922-a8f5-1b4a40a56943	88c181a4-5488-4095-be4e-f0553e6c66ee	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						ENST00000371764.4																			3	Deletion - Frameshift(3)	p.K691fs*4(3)	large_intestine(2)|ovary(1)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(2065-2067)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							67.0	72.0	70.0					20																	47858504		2203	4300	6503	SO:0001589	frameshift_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47858504delA	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs					DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	p.K691fs	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		17	2074	+			691					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	ENST00000371764.4	37	c.2065delA	CCDS13416.1																																																																																				0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			7	205						7	205	---	---	---	---
