#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
CCDC27	148870	broad.mit.edu	37	1	3687985	3687985	+	Silent	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:3687985C>T	ENST00000294600.2	+	12	1953	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SMIM1_ENST00000561886.1_5'Flank|SMIM1_ENST00000444870.2_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	623										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGAGAGAAGCGACTACTATA	0.547																																						uc001akv.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1867-1869)agC>agT		Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.							107.0	121.0	116.0					1																	3687985		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3687985C>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1869C>T	1.37:g.3687985C>T						LOC388588_uc001akw.4_5'Flank	p.S623S	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	11	1950	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	623					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1869C>T	CCDS50.1																																																																																				0.547	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
TINAGL1	64129	broad.mit.edu	37	1	32049166	32049166	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:32049166A>C	ENST00000271064.7	+	5	648	c.572A>C	c.(571-573)cAt>cCt	p.H191P	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.H160P	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	191					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ATGAACATGCATGAAATTTAT	0.592																																						uc001bta.3																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(571-573)cAt>cCt		Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.							124.0	94.0	104.0					1																	32049166		2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32049166A>C	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.572A>C	1.37:g.32049166A>C	ENSP00000271064:p.His191Pro					TINAGL1_uc010ogj.2_Missense_Mutation_p.H160P|TINAGL1_uc010ogk.1_Missense_Mutation_p.H191P|TINAGL1_uc021oko.1_Missense_Mutation_p.H86P	p.H191P	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	4	698	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	191					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.572A>C	CCDS343.1	.	.	.	.	.	.	.	.	.	.	a	12.28	1.891416	0.33442	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.83419	-1.72;-1.72	4.27	4.27	0.50696	.	0.221354	0.44688	D	0.000436	T	0.67795	0.2931	N	0.14661	0.345	0.80722	D	1	B;B	0.28971	0.001;0.229	B;B	0.22601	0.0;0.04	T	0.65730	-0.6097	10	0.27082	T	0.32	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	160;191	B4DPK6;Q9GZM7	.;TINAL_HUMAN	P	160;191;179	ENSP00000395137:H160P;ENSP00000271064:H191P	ENSP00000271064:H191P	H	+	2	0	TINAGL1	31821753	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	6.938000	0.75904	1.923000	0.55706	0.383000	0.25322	CAT		0.592	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164	
RORC	6097	broad.mit.edu	37	1	151789175	151789175	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:151789175A>G	ENST00000318247.6	-	4	370	c.263T>C	c.(262-264)cTg>cCg	p.L88P	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Missense_Mutation_p.L67P|RORC_ENST00000392697.3_Missense_Mutation_p.L142P	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	88					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATTTCTGCAGGCGGCAGTG	0.662																																						uc001ezh.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(262-264)cTg>cCg		Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.							32.0	29.0	30.0					1																	151789175		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151789175A>G	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.263T>C	1.37:g.151789175A>G	ENSP00000327025:p.Leu88Pro					RORC_uc001ezg.3_Missense_Mutation_p.L67P|RORC_uc010pdo.2_Missense_Mutation_p.L142P|RORC_uc010pdp.2_Missense_Mutation_p.L88P	p.L88P	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	371	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		88					Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.263T>C	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586611	0.86851	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.98135	-4.74;-4.74;-4.74	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.49916	U	0.000121	D	0.99177	0.9715	H	0.97983	4.12	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99010	1.0814	10	0.87932	D	0	.	13.1028	0.59231	1.0:0.0:0.0:0.0	.	88;142;88;67	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	P	67;142;88	ENSP00000349164:L67P;ENSP00000376461:L142P;ENSP00000327025:L88P	ENSP00000327025:L88P	L	-	2	0	RORC	150055799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.334000	0.96470	1.973000	0.57446	0.460000	0.39030	CTG		0.662	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
HRNR	388697	broad.mit.edu	37	1	152185788	152185788	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:152185788C>T	ENST00000368801.2	-	3	8392	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2773					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTCGGCCGTGGCTAAGA	0.602																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(8317-8319)Ggc>Agc		Homo sapiens hornerin (HRNR), mRNA.							65.0	40.0	49.0					1																	152185788		2153	4024	6177	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152185788C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8317G>A	1.37:g.152185788C>T	ENSP00000357791:p.Gly2773Ser						p.G2773S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8393	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2773					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.8317G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.181	1.023480	0.19433	.	.	ENSG00000197915	ENST00000368801	T	0.01599	4.74	3.69	-2.41	0.06562	.	.	.	.	.	T	0.00210	0.0006	N	0.04880	-0.145	0.09310	N	1	B	0.24882	0.113	B	0.13407	0.009	T	0.41484	-0.9506	9	0.06099	T	0.92	.	2.0797	0.03632	0.1405:0.3967:0.2765:0.1864	.	2773	Q86YZ3	HORN_HUMAN	S	2773	ENSP00000357791:G2773S	ENSP00000357791:G2773S	G	-	1	0	HRNR	150452412	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.279000	0.00529	-0.304000	0.08843	-0.291000	0.09656	GGC		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
CEP350	9857	broad.mit.edu	37	1	180062525	180062525	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:180062525T>A	ENST00000367607.3	+	34	7703	c.7285T>A	c.(7285-7287)Ttt>Att	p.F2429I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2429					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCACTAGCTTTGGTAGTAA	0.453																																						uc001gnt.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(7285-7287)Ttt>Att		Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.							37.0	32.0	34.0					1																	180062525		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180062525T>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7285T>A	1.37:g.180062525T>A	ENSP00000356579:p.Phe2429Ile					CEP350_uc009wxl.2_Missense_Mutation_p.F2428I|CEP350_uc001gnv.3_Missense_Mutation_p.F564I|CEP350_uc001gnw.1_Missense_Mutation_p.F186I|CEP350_uc001gnx.1_Missense_Mutation_p.F186I	p.F2429I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			33	7668	+			2429					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.7285T>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.801|8.801	0.932876|0.932876	0.18131|0.18131	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.56444|.	0.46|.	5.8|5.8	4.67|4.67	0.58626|0.58626	.|.	0.137099|.	0.33553|.	N|.	0.004799|.	T|T	0.42063|0.42063	0.1186|0.1186	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	B;B|.	0.28713|.	0.22;0.049|.	B;B|.	0.21151|.	0.033;0.014|.	T|T	0.41215|0.41215	-0.9521|-0.9521	9|5	.|.	.|.	.|.	.|.	3.9133|3.9133	0.09213|0.09213	0.1553:0.1699:0.0:0.6748|0.1553:0.1699:0.0:0.6748	.|.	2429;2429|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	I|H	2429|603	ENSP00000356579:F2429I|.	.|.	F|L	+|+	1|2	0|0	CEP350|CEP350	178329148|178329148	0.001000|0.001000	0.12720|0.12720	0.247000|0.247000	0.24249|0.24249	0.480000|0.480000	0.33159|0.33159	0.904000|0.904000	0.28491|0.28491	1.007000|1.007000	0.39238|0.39238	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.453	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
SUFU	51684	broad.mit.edu	37	10	104353785	104353785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:104353785delG	ENST00000369902.3	+	6	885	c.719delG	c.(718-720)aggfs	p.R240fs	SUFU_ENST00000423559.2_Frame_Shift_Del_p.R240fs|SUFU_ENST00000369899.2_Frame_Shift_Del_p.R240fs|RNU6-43P_ENST00000384302.1_RNA|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	240					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GACATGCGGAGGGGAGAGACC	0.532			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.2			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(718-720)aggfs		Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.							141.0	125.0	131.0					10																	104353785		2203	4300	6503	SO:0001589	frameshift_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353785delG	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.719delG	10.37:g.104353785delG	ENSP00000358918:p.Arg240fs					SUFU_uc001kvw.2_Frame_Shift_Del_p.R240fs|SUFU_uc001kvx.3_Frame_Shift_Del_p.R240fs|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	p.R240fs	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	910	+		Colorectal(252;0.207)	240					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Frame_Shift_Del	DEL	ENST00000369902.3	37	c.719delG	CCDS7537.1																																																																																				0.532	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169	
CFAP43	80217	broad.mit.edu	37	10	105906078	105906078	+	Silent	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:105906078A>G	ENST00000357060.3	-	30	3913	c.3798T>C	c.(3796-3798)tcT>tcC	p.S1266S	WDR96_ENST00000428666.1_Intron	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTCTTCTCTAGATTTCCGAA	0.418																																						uc001kxw.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3796-3798)tcT>tcC		Homo sapiens WD repeat domain 96 (WDR96), mRNA.							137.0	124.0	128.0					10																	105906078		2203	4300	6503	SO:0001819	synonymous_variant	80217							g.chr10:105906078A>G																												ENST00000357060.3:c.3798T>C	10.37:g.105906078A>G						WDR96_uc009xxq.3_Intron	p.S1266S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN			29	3914	-			1266						Silent	SNP	ENST00000357060.3	37	c.3798T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.188005	0.01607	.	.	ENSG00000197748	ENST00000457071	.	.	.	6.07	-5.92	0.02261	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.23724	N	0.997014	.	.	.	.	.	.	T	0.19321	-1.0309	4	.	.	.	.	1.3361	0.02145	0.3866:0.1705:0.2745:0.1684	.	.	.	.	P	115	.	.	L	-	2	0	WDR96	105896068	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.383000	0.02544	-1.999000	0.00967	-1.426000	0.01102	CTA		0.418	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SIGIRR	59307	broad.mit.edu	37	11	408155	408155	+	Silent	SNP	G	G	A	rs142561304	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:408155G>A	ENST00000431843.2	-	4	564	c.258C>T	c.(256-258)aaC>aaT	p.N86N	SIGIRR_ENST00000531205.1_Silent_p.N86N|SIGIRR_ENST00000397632.3_Silent_p.N86N|SIGIRR_ENST00000332725.3_Silent_p.N86N|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.N86N	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	86	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGTCACGTTGACCCCCA	0.577													g|||	15	0.00299521	0.0	0.0	5008	,	,		19631	0.0119		0.0	False		,,,				2504	0.0031					uc001lpg.3																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(256-258)aaC>aaT		Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.		G	,,	0,4404		0,0,2202	126.0	115.0	119.0		258,258,258	1.1	0.7	11	dbSNP_134	119	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SIGIRR	NM_001135053.1,NM_001135054.1,NM_021805.2	,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,	86/411,86/411,86/411	408155	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408155G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.258C>T	11.37:g.408155G>A						SIGIRR_uc001lpd.2_Silent_p.N86N|SIGIRR_uc001lpf.2_Silent_p.N86N|SIGIRR_uc001lpe.1_Silent_p.N86N	p.N86N			Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	411	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	86			Ig-like C2-type.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.258C>T	CCDS31325.1																																																																																				0.577	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805	
OR10AG1	282770	broad.mit.edu	37	11	55735664	55735664	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:55735664C>T	ENST00000312345.2	-	1	326	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAAAAACACATTTGTGTAG	0.403																																						uc010rit.2																			0		p.M92T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(274-276)atG>atA		Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.							82.0	86.0	85.0					11																	55735664		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735664C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.276G>A	11.37:g.55735664C>T	ENSP00000311477:p.Met92Ile						p.M92I	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			0	276	-	Esophageal squamous(21;0.0137)		92					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.276G>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102441	0.20632	.	.	ENSG00000174970	ENST00000312345	T	0.02015	4.5	5.47	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.105006	0.44483	D	0.000456	T	0.02342	0.0072	L	0.50847	1.595	0.09310	N	1	B	0.23316	0.083	B	0.20955	0.032	T	0.39722	-0.9600	10	0.52906	T	0.07	.	3.3248	0.07063	0.1641:0.4775:0.2657:0.0926	.	92	Q8NH19	O10AG_HUMAN	I	92	ENSP00000311477:M92I	ENSP00000311477:M92I	M	-	3	0	OR10AG1	55492240	0.000000	0.05858	0.985000	0.45067	0.402000	0.30811	-1.189000	0.03061	1.367000	0.46095	0.477000	0.44152	ATG		0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
DDI1	414301	broad.mit.edu	37	11	103908618	103908618	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:103908618G>A	ENST00000302259.3	+	1	1311	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	356							aspartic-type endopeptidase activity (GO:0004190)	p.T356T(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463																																						uc001phr.2																			2	Substitution - coding silent(2)	p.T356T(3)	endometrium(2)	central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1066-1068)acG>acA		Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.							84.0	82.0	83.0					11																	103908618		2202	4299	6501	SO:0001819	synonymous_variant	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908618G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1068G>A	11.37:g.103908618G>A						PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	p.T356T	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	0	1311	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	356					Q7Z4U6|Q8WTS3	Silent	SNP	ENST00000302259.3	37	c.1068G>A	CCDS31660.1																																																																																				0.463	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
MMP19	4327	broad.mit.edu	37	12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:56230872C>T	ENST00000322569.4	-	9	1566	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Missense_Mutation_p.G206D|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000548629.1_Missense_Mutation_p.G469D	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	492					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CAAGGTTATGCCCGTACCTGA	0.507																																						uc001sib.3																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(1474-1476)gGc>gAc		Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.							254.0	240.0	245.0					12																	56230872		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56230872C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1475G>A	12.37:g.56230872C>T	ENSP00000313437:p.Gly492Asp					MMP19_uc001sia.3_Missense_Mutation_p.G206D|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	p.G492D	NM_002429	NP_002420	Q99542	MMP19_HUMAN			8	1596	-			492					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.1475G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388699	0.25118	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.16196	4.61;2.52;2.36	5.08	-1.03	0.10102	.	380.668000	0.00166	N	0.000000	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.27262	-1.0079	10	0.08381	T	0.77	.	8.2874	0.31937	0.0:0.4412:0.0:0.5588	.	492;206	Q99542;Q99542-3	MMP19_HUMAN;.	D	206;492;469	ENSP00000377736:G206D;ENSP00000313437:G492D;ENSP00000446979:G469D	ENSP00000313437:G492D	G	-	2	0	MMP19	54517139	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.224000	0.02959	-0.161000	0.10983	-0.291000	0.09656	GGC		0.507	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	
PLXNC1	10154	broad.mit.edu	37	12	94654582	94654582	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:94654582A>T	ENST00000258526.4	+	20	3665	c.3416A>T	c.(3415-3417)aAc>aTc	p.N1139I	PLXNC1_ENST00000545312.1_5'Flank|PLXNC1_ENST00000547057.1_Missense_Mutation_p.N186I|PLXNC1_ENST00000551495.1_3'UTR	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1139					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCACAAACTGGATGTCC	0.498																																						uc001tdc.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3415-3417)aAc>aTc		Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.							103.0	107.0	106.0					12																	94654582		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94654582A>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3416A>T	12.37:g.94654582A>T	ENSP00000258526:p.Asn1139Ile					PLXNC1_uc010sut.2_Missense_Mutation_p.N186I|PLXNC1_uc009zsv.3_5'Flank	p.N1139I	NM_005761	NP_005752	O60486	PLXC1_HUMAN			19	3665	+			1139					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3416A>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691178	0.88735	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.14893	2.47;2.47	6.17	6.17	0.99709	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.54022	-0.8355	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	186;1139	B4DHQ7;O60486	.;PLXC1_HUMAN	I	1139;186	ENSP00000258526:N1139I;ENSP00000446720:N186I	ENSP00000258526:N1139I	N	+	2	0	PLXNC1	93178713	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAC		0.498	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
COL4A2	1284	broad.mit.edu	37	13	111084708	111084708	+	Splice_Site	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr13:111084708G>A	ENST00000360467.5	+	11	990		c.e11+1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGACAGCAAGTAAGTTGGTT	0.438																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e11+1		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							46.0	46.0	46.0					13																	111084708		1839	4090	5929	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111084708G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.684+1G>A	13.37:g.111084708G>A							p.Q228_splice	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		11	973	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	228			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.684_splice	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891678	0.33442	.	.	ENSG00000134871	ENST00000360467	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4947	0.87714	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A2	109882709	1.000000	0.71417	0.982000	0.44146	0.533000	0.34776	6.202000	0.72131	2.464000	0.83262	0.455000	0.32223	.		0.438	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Intron
PTGR2	145482	broad.mit.edu	37	14	74346839	74346839	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr14:74346839C>G	ENST00000555661.1	+	7	956	c.811C>G	c.(811-813)Cct>Gct	p.P271A	PTGR2_ENST00000553813.1_Missense_Mutation_p.P137A|PTGR2_ENST00000555228.1_Missense_Mutation_p.P271A|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.P201A|PTGR2_ENST00000267568.4_Missense_Mutation_p.P271A			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	271					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	CCCGCTATCCCCTGCTATAGA	0.413																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.3																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						c.(811-813)Cct>Gct		Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.							102.0	91.0	95.0					14																	74346839		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74346839C>G	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.811C>G	14.37:g.74346839C>G	ENSP00000452280:p.Pro271Ala					PTGR2_uc010tue.2_Missense_Mutation_p.P271A|PTGR2_uc001xox.3_Missense_Mutation_p.P271A|ZNF410_uc001xoy.2_Non-coding_Transcript	p.P271A	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN			6	971	+			271					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.811C>G	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	8.275	0.814180	0.16537	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;0.99;-1.1	5.49	3.67	0.42095	NAD(P)-binding domain (1);	0.226336	0.45867	D	0.000330	T	0.63510	0.2517	L	0.28649	0.875	0.27194	N	0.960351	B	0.02656	0.0	B	0.04013	0.001	T	0.55798	-0.8084	10	0.52906	T	0.07	-4.467	6.5322	0.22334	0.1345:0.6665:0.1296:0.0693	.	271	Q8N8N7	PTGR2_HUMAN	A	271;271;271;222;137	ENSP00000450975:P271A;ENSP00000452280:P271A;ENSP00000267568:P271A;ENSP00000451158:P222A;ENSP00000450824:P137A	ENSP00000267568:P271A	P	+	1	0	RP5-1021I20.4;PTGR2	73416592	0.994000	0.37717	0.364000	0.25888	0.471000	0.32888	1.194000	0.32174	0.676000	0.31285	-0.230000	0.12252	CCT		0.413	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1		
MFAP1	4236	broad.mit.edu	37	15	44106722	44106722	+	Silent	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr15:44106722G>T	ENST00000267812.3	-	4	826	c.594C>A	c.(592-594)cgC>cgA	p.R198R		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	198					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGGCTTAAGGCGAGGCTCCA	0.448																																						uc001zth.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(592-594)cgC>cgA		Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.							211.0	198.0	202.0					15																	44106722		2198	4298	6496	SO:0001819	synonymous_variant	4236					microfibril		g.chr15:44106722G>T		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.594C>A	15.37:g.44106722G>T							p.R198R	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	3	778	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	198					Q86TG6	Silent	SNP	ENST00000267812.3	37	c.594C>A	CCDS10105.1																																																																																				0.448	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926	
VWA3A	146177	broad.mit.edu	37	16	22149825	22149825	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:22149825G>A	ENST00000389398.5	+	22	2380	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	762						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCCCTGGGGGCCAGAATGGT	0.537																																						uc010vbq.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(2284-2286)Gcc>Acc		Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.							42.0	45.0	44.0					16																	22149825		1893	4117	6010	SO:0001583	missense	146177					extracellular region		g.chr16:22149825G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2284G>A	16.37:g.22149825G>A	ENSP00000374049:p.Ala762Thr					VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.A770T	p.A762T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	21	2380	+			762					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.2284G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875783	0.33162	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.14144	2.53	5.18	2.02	0.26589	.	0.274240	0.34338	N	0.004047	T	0.25158	0.0611	M	0.71581	2.175	0.80722	D	1	D;D	0.58620	0.983;0.978	P;P	0.53861	0.736;0.729	T	0.01287	-1.1395	10	0.56958	D	0.05	.	10.2485	0.43356	0.0:0.2759:0.5813:0.1429	.	762;386	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	T	762;385	ENSP00000374049:A762T	ENSP00000299840:A385T	A	+	1	0	VWA3A	22057326	0.998000	0.40836	0.558000	0.28319	0.287000	0.27160	0.562000	0.23531	0.248000	0.21435	-0.268000	0.10319	GCC		0.537	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
STX1B	112755	broad.mit.edu	37	16	31004532	31004532	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:31004532G>A	ENST00000215095.5	-	9	936	c.705C>T	c.(703-705)aaC>aaT	p.N235N	STX1B_ENST00000565419.1_Silent_p.N235N	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	235	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AATGTTCCACGTTGTACTCGA	0.602																																						uc010cad.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(703-705)aaC>aaT		Homo sapiens syntaxin 1B (STX1B), mRNA.							155.0	140.0	145.0					16																	31004532		2197	4300	6497	SO:0001819	synonymous_variant	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31004532G>A	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.705C>T	16.37:g.31004532G>A						STX1B_uc010vfd.2_Silent_p.N235N	p.N235N	NM_052874	NP_443106	P61266	STX1B_HUMAN			8	817	-			235			t-SNARE coiled-coil homology.		Q15531|Q2VPS2	Silent	SNP	ENST00000215095.5	37	c.705C>T	CCDS10699.1																																																																																				0.602	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2		
FAM92B	339145	broad.mit.edu	37	16	85132864	85132864	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:85132864A>C	ENST00000539556.1	-	9	997	c.842T>G	c.(841-843)gTg>gGg	p.V281G		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	281										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CCCCTTAACCACCCACTCACA	0.532																																						uc021tma.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(841-843)gTg>gGg		Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.							125.0	99.0	108.0					16																	85132864		2198	4300	6498	SO:0001583	missense	339145							g.chr16:85132864A>C		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.842T>G	16.37:g.85132864A>C	ENSP00000443411:p.Val281Gly					FAM92B_uc021tlz.1_Missense_Mutation_p.V279G	p.V281G	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN			8	998	-			281						Missense_Mutation	SNP	ENST00000539556.1	37	c.842T>G	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	A	3.833	-0.035399	0.07497	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.37058	1.22	1.33	-0.907	0.10521	.	3.778660	0.01092	N	0.005218	T	0.26231	0.0640	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30592	-0.9973	10	0.87932	D	0	.	5.5885	0.17287	0.5774:0.4226:0.0:0.0	.	281	Q6ZTR7	FA92B_HUMAN	G	281	ENSP00000443411:V281G	ENSP00000376937:V281G	V	-	2	0	FAM92B	83690365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.510000	0.06328	-0.243000	0.09653	-0.347000	0.07816	GTG		0.532	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491	
FOXN1	8456	broad.mit.edu	37	17	26864216	26864216	+	Missense_Mutation	SNP	C	C	T	rs376900275		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr17:26864216C>T	ENST00000226247.2	+	8	1738	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	FOXN1_ENST00000579795.1_Missense_Mutation_p.S570L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	570					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACATCATCTTCGATGCCACCA	0.612																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1708-1710)tCg>tTg		Homo sapiens forkhead box N1 (FOXN1), mRNA.		C	LEU/SER	0,4406		0,0,2203	93.0	83.0	86.0		1709	4.1	0.9	17		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN1	NM_003593.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	570/649	26864216	1,13005	2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864216C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1709C>T	17.37:g.26864216C>T	ENSP00000226247:p.Ser570Leu					FOXN1_uc002hbj.3_Missense_Mutation_p.S570L	p.S570L	NM_003593	NP_003584	O15353	FOXN1_HUMAN			8	1907	+	Lung NSC(42;0.00431)		570					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1709C>T	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850823	0.32699	0.0	1.16E-4	ENSG00000109101	ENST00000226247	D	0.92858	-3.12	4.13	4.13	0.48395	.	0.000000	0.41294	D	0.000916	D	0.86573	0.5965	N	0.22421	0.69	0.40918	D	0.984289	D	0.63880	0.993	P	0.44647	0.456	D	0.87412	0.2376	10	0.45353	T	0.12	.	12.602	0.56503	0.0:1.0:0.0:0.0	.	570	O15353	FOXN1_HUMAN	L	570	ENSP00000226247:S570L	ENSP00000226247:S570L	S	+	2	0	FOXN1	23888343	0.996000	0.38824	0.889000	0.34880	0.112000	0.19704	3.607000	0.54102	2.198000	0.70561	0.561000	0.74099	TCG		0.612	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
THOC1	9984	broad.mit.edu	37	18	225100	225100	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr18:225100T>C	ENST00000261600.6	-	14	1133	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	376					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTACCATCTTTGAAAATCTT	0.363																																						uc002kkj.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1126-1128)Aag>Gag		Homo sapiens THO complex 1 (THOC1), mRNA.							37.0	34.0	35.0					18																	225100		1805	4063	5868	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:225100T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1126A>G	18.37:g.225100T>C	ENSP00000261600:p.Lys376Glu					THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.4_5'UTR	p.K376E	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			13	1166	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	376					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.1126A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.487137	0.26686	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.16	6.16	0.99307	.	0.132843	0.64402	D	0.000002	T	0.43875	0.1267	N	0.17872	0.535	0.53688	D	0.999976	B	0.18610	0.029	B	0.21151	0.033	T	0.34725	-0.9817	9	0.14656	T	0.56	-16.2864	16.8061	0.85666	0.0:0.0:0.0:1.0	.	376	Q96FV9	THOC1_HUMAN	E	376	.	ENSP00000261600:K376E	K	-	1	0	THOC1	215100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.400000	0.44504	2.367000	0.80283	0.528000	0.53228	AAG		0.363	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131	
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.3																			12	Substitution - Missense(12)	p.Q111E(12)	kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(331-333)Cag>Gag		Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.																																				SO:0001583	missense	388524				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	754	+			111			Interaction with PPP1R16B.			Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
CEACAM7	1087	broad.mit.edu	37	19	42187745	42187745	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:42187745C>T	ENST00000006724.3	-	3	878	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R226H	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	226	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGGTCACTGCGGCTGGCACC	0.547																																						uc002ori.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(676-678)cGc>cAc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.							165.0	161.0	163.0					19																	42187745		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187745C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.677G>A	19.37:g.42187745C>T	ENSP00000006724:p.Arg226His					CEACAM7_uc010ehx.2_Missense_Mutation_p.R226H|CEACAM7_uc010ehy.1_Intron	p.R226H	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	679	-			226			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.677G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	4.854	0.158766	0.09236	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	T;T	0.12672	2.66;2.66	3.02	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15696	0.0378	L	0.60455	1.87	0.09310	N	0.999996	B	0.27140	0.169	B	0.34418	0.182	T	0.27739	-1.0065	9	0.46703	T	0.11	.	6.1546	0.20330	0.0:0.8436:0.0:0.1564	.	226	Q14002	CEAM7_HUMAN	H	226;205;226	ENSP00000006724:R226H;ENSP00000385932:R226H	ENSP00000006724:R226H	R	-	2	0	CEACAM7	46879585	0.000000	0.05858	0.269000	0.24586	0.124000	0.20399	-0.720000	0.04969	0.373000	0.24621	0.313000	0.20887	CGC		0.547	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	
NLRP12	91662	broad.mit.edu	37	19	54313743	54313743	+	Silent	SNP	G	G	A	rs146245368	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:54313743G>A	ENST00000324134.6	-	3	1338	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	NLRP12_ENST00000535162.1_Silent_p.Y390Y|NLRP12_ENST00000345770.5_Silent_p.Y390Y|NLRP12_ENST00000391772.1_Silent_p.Y390Y|NLRP12_ENST00000354278.3_Silent_p.Y390Y|NLRP12_ENST00000351894.4_Silent_p.Y390Y|NLRP12_ENST00000391775.3_Silent_p.Y390Y|NLRP12_ENST00000391773.1_Silent_p.Y390Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	390	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTCCCTCACGTAATTGAAGA	0.567													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17279	0.0		0.0	False		,,,				2504	0.0					uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1168-1170)taC>taT		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.		G		16,4390	22.3+/-47.3	0,16,2187	181.0	178.0	179.0		1170	-9.3	0.0	19	dbSNP_134	179	0,8600		0,0,4300	no	coding-synonymous	NLRP12	NM_144687.2		0,16,6487	AA,AG,GG		0.0,0.3631,0.123		390/1062	54313743	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313743G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1170C>T	19.37:g.54313743G>A						NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.Y390Y|NLRP12_uc002qci.4_Silent_p.Y390Y|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.Y390Y	p.Y390Y	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	1390	-	Ovarian(34;0.19)		390			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1170C>T	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
ADCY3	109	broad.mit.edu	37	2	25044464	25044464	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:25044464C>T	ENST00000260600.5	-	19	3900	c.3049G>A	c.(3049-3051)Gcc>Acc	p.A1017T	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.A604T	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1017					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCGAAGTCGGCCAGGTCAGCC	0.607																																						uc010ykm.2																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(3052-3054)Gcc>Acc		Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.							161.0	149.0	153.0					2																	25044464		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25044464C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3049G>A	2.37:g.25044464C>T	ENSP00000260600:p.Ala1017Thr					CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604T|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017T	p.A1018T	NM_004036	NP_004027	O60266	ADCY3_HUMAN			18	3251	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1017					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.3052G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	37	5.995401	0.97184	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.32753	1.44;1.44	5.91	5.91	0.95273	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.71206	2.165	0.80722	D	1	P;D;P	0.61080	0.884;0.989;0.888	P;D;P	0.68765	0.874;0.96;0.517	T	0.54728	-0.8250	10	0.56958	D	0.05	.	19.8914	0.96931	0.0:1.0:0.0:0.0	.	1018;1017;604	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	T	1017;604;992	ENSP00000260600:A1017T;ENSP00000384484:A604T	ENSP00000260600:A1017T	A	-	1	0	ADCY3	24897968	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.806000	0.86020	2.813000	0.96785	0.655000	0.94253	GCC		0.607	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		
KIAA1211L	343990	broad.mit.edu	37	2	99438371	99438371	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:99438371G>T	ENST00000397899.2	-	7	2696	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	789	Pro-rich.																TCCTTCCTGGGTTCCCGCTCT	0.736																																						uc002szf.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(2365-2367)Ccc>Acc		Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.							12.0	13.0	13.0					2																	99438371		1832	4087	5919	SO:0001583	missense	343990							g.chr2:99438371G>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2365C>A	2.37:g.99438371G>T	ENSP00000380996:p.Pro789Thr						p.P789T	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			6	2659	-			789			Pro-rich.			Missense_Mutation	SNP	ENST00000397899.2	37	c.2365C>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.006009	0.35415	.	.	ENSG00000196872	ENST00000397899	T	0.48201	0.82	4.76	-2.58	0.06228	.	1.378930	0.04702	N	0.416099	T	0.60038	0.2238	M	0.61703	1.905	0.09310	N	0.999999	D	0.76494	0.999	D	0.70016	0.967	T	0.53315	-0.8456	10	0.52906	T	0.07	-0.7826	4.9496	0.14008	0.3756:0.2733:0.3511:0.0	.	789	Q6NV74	CB055_HUMAN	T	789	ENSP00000380996:P789T	ENSP00000380996:P789T	P	-	1	0	C2orf55	98804803	0.829000	0.29322	0.049000	0.19019	0.007000	0.05969	0.485000	0.22324	-0.402000	0.07633	-0.311000	0.09066	CCC		0.736	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362	
BOLL	66037	broad.mit.edu	37	2	198643759	198643759	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:198643759G>A	ENST00000392296.4	-	3	470	c.161C>T	c.(160-162)tCc>tTc	p.S54F	BOLL_ENST00000321801.7_Missense_Mutation_p.S66F|BOLL_ENST00000430004.1_Missense_Mutation_p.S54F|BOLL_ENST00000433157.1_Missense_Mutation_p.S54F|BOLL_ENST00000282278.8_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	54	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318																																						uc002uuu.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.(178-180)tCc>tTc		Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.							80.0	83.0	82.0					2																	198643759		2202	4298	6500	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198643759G>A		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.161C>T	2.37:g.198643759G>A	ENSP00000376116:p.Ser54Phe					BOLL_uc002uur.2_Missense_Mutation_p.S60F|BOLL_uc002uus.2_Missense_Mutation_p.S54F|BOLL_uc002uut.2_Missense_Mutation_p.S66F|BOLL_uc010zha.1_5'UTR	p.S60F	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			2	558	-			54			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.179C>T	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477192	0.84640	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.151395	0.44483	D	0.000442	D	0.92221	0.7533	M	0.85945	2.785	0.80722	D	1	D;P;P;P	0.55800	0.973;0.654;0.881;0.699	P;P;P;P	0.59948	0.847;0.632;0.866;0.694	D	0.93157	0.6554	10	0.72032	D	0.01	-21.3924	17.1304	0.86725	0.0:0.0:1.0:0.0	.	60;66;54;60	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	F	54;54;66;54	ENSP00000397711:S54F;ENSP00000376116:S54F;ENSP00000314792:S66F;ENSP00000396099:S54F	ENSP00000314792:S66F	S	-	2	0	BOLL	198352004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.927000	0.75840	2.585000	0.87301	0.555000	0.69702	TCC		0.318	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030	
FASTKD5	60493	broad.mit.edu	37	20	3128199	3128199	+	Silent	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr20:3128199A>C	ENST00000380266.3	-	2	1839	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	506					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468																																						uc021vzx.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1516-1518)acT>acG		Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.							53.0	49.0	50.0					20																	3128199		2203	4300	6503	SO:0001819	synonymous_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128199A>C	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1518T>G	20.37:g.3128199A>C						LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.T506T	p.T506T	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			0	1518	-			506					Q96JN3|Q9H5D1|Q9H8Y3	Silent	SNP	ENST00000380266.3	37	c.1518T>G	CCDS13048.1																																																																																				0.468	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826	
OR5AC2	81050	broad.mit.edu	37	3	97806212	97806212	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:97806212G>A	ENST00000358642.2	+	1	196	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	66					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)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTATTCCTTGGTGGTTTAGC	0.438																																						uc011bgs.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(196-198)Ggt>Agt		Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.							278.0	262.0	267.0					3																	97806212		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806212G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.196G>A	3.37:g.97806212G>A	ENSP00000351466:p.Gly66Ser						p.G66S	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			0	196	+			66						Missense_Mutation	SNP	ENST00000358642.2	37	c.196G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857637	0.32791	.	.	ENSG00000196578	ENST00000358642	T	0.04275	3.66	5.19	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.427722	0.16988	N	0.191412	T	0.01730	0.0055	N	0.03917	-0.325	0.09310	N	1	B	0.31859	0.343	B	0.33454	0.164	T	0.44651	-0.9314	10	0.02654	T	1	-11.5287	6.1565	0.20340	0.2765:0.1464:0.5771:0.0	.	66	Q9NZP5	O5AC2_HUMAN	S	66	ENSP00000351466:G66S	ENSP00000351466:G66S	G	+	1	0	OR5AC2	99288902	0.000000	0.05858	0.006000	0.13384	0.959000	0.62525	-0.396000	0.07278	0.352000	0.24053	0.590000	0.80494	GGT		0.438	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1		
SENP7	57337	broad.mit.edu	37	3	101046635	101046635	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:101046635T>C	ENST00000394095.2	-	23	2943	c.2890A>G	c.(2890-2892)Aaa>Gaa	p.K964E	SENP7_ENST00000358203.3_Missense_Mutation_p.K800E|SENP7_ENST00000394094.2_Missense_Mutation_p.K899E|SENP7_ENST00000394085.3_Missense_Mutation_p.K152E|SENP7_ENST00000348610.3_Missense_Mutation_p.K931E|SENP7_ENST00000314261.7_Missense_Mutation_p.K898E|SENP7_ENST00000394091.1_Missense_Mutation_p.K800E	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	964	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTTTAGTTTAACTTCCCAC	0.338																																						uc003dut.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2890-2892)Aaa>Gaa		Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.							187.0	168.0	174.0					3																	101046635		2203	4298	6501	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101046635T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2890A>G	3.37:g.101046635T>C	ENSP00000377655:p.Lys964Glu					SENP7_uc003duu.3_Missense_Mutation_p.K899E|SENP7_uc003duv.3_Missense_Mutation_p.K931E|SENP7_uc003duw.3_Missense_Mutation_p.K898E|SENP7_uc003dux.3_Missense_Mutation_p.K800E|SENP7_uc003dus.3_Missense_Mutation_p.K152E	p.K964E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			22	3001	-			964			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2890A>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165799	0.78339	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.27	5.27	0.74061	.	0.112104	0.64402	D	0.000009	T	0.53916	0.1826	M	0.80508	2.5	0.41601	D	0.988852	P;D;P;D;D	0.58268	0.944;0.964;0.945;0.964;0.982	P;P;P;P;P	0.58577	0.453;0.801;0.641;0.686;0.841	T	0.62110	-0.6923	10	0.87932	D	0	-12.6301	15.4711	0.75441	0.0:0.0:0.0:1.0	.	800;898;931;964;152	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	E	964;899;898;800;800;152;931	ENSP00000377655:K964E;ENSP00000377654:K899E;ENSP00000313624:K898E;ENSP00000377651:K800E;ENSP00000350936:K800E;ENSP00000377647:K152E;ENSP00000342159:K931E	ENSP00000313624:K898E	K	-	1	0	SENP7	102529325	1.000000	0.71417	0.982000	0.44146	0.917000	0.54804	4.290000	0.59019	2.108000	0.64289	0.533000	0.62120	AAA		0.338	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
AADAC	13	broad.mit.edu	37	3	151545690	151545690	+	Silent	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:151545690A>G	ENST00000232892.7	+	5	1056	c.930A>G	c.(928-930)aaA>aaG	p.K310K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	310					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGCTAAAAAATATCCAGGGT	0.418																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(928-930)aaA>aaG		Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.							45.0	46.0	46.0					3																	151545690		2203	4300	6503	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545690A>G	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.930A>G	3.37:g.151545690A>G							p.K310K	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1020	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	310					A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.930A>G	CCDS33877.1																																																																																				0.418	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086	
ATOH1	474	broad.mit.edu	37	4	94750754	94750754	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:94750754C>T	ENST00000306011.3	+	1	713	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	226	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGCCACCGCCGCCTCCAGCC	0.632																																						uc003hta.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(676-678)cCg>cTg		Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.							27.0	32.0	30.0					4																	94750754		2198	4287	6485	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750754C>T	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.677C>T	4.37:g.94750754C>T	ENSP00000302216:p.Pro226Leu						p.P226L	NM_005172	NP_005163	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	0	677	+		Hepatocellular(203;0.114)	226			Poly-Pro.		Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.677C>T	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023794	0.19433	.	.	ENSG00000172238	ENST00000306011	D	0.97642	-4.47	4.22	3.28	0.37604	.	0.374956	0.27311	N	0.019957	D	0.91486	0.7312	N	0.17723	0.515	0.32729	N	0.50918	D	0.58268	0.982	B	0.41571	0.36	D	0.90829	0.4715	10	0.11485	T	0.65	-13.6889	12.4034	0.55426	0.1796:0.8204:0.0:0.0	.	226	Q92858	ATOH1_HUMAN	L	226	ENSP00000302216:P226L	ENSP00000302216:P226L	P	+	2	0	ATOH1	94969777	0.477000	0.25909	0.990000	0.47175	0.486000	0.33341	-0.022000	0.12480	2.202000	0.70862	0.472000	0.43445	CCG		0.632	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172	
ZNF827	152485	broad.mit.edu	37	4	146791485	146791485	+	Silent	SNP	G	G	A	rs186229674		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:146791485G>A	ENST00000508784.1	-	5	2120	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	ZNF827_ENST00000379448.4_Silent_p.D631D|ZNF827_ENST00000513320.1_Silent_p.D281D|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTTAGTGCGTCCTCAGAGA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17215	0.0		0.001	False		,,,				2504	0.0					uc003ikn.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1891-1893)gaC>gaT		Homo sapiens zinc finger protein 827 (ZNF827), mRNA.							107.0	101.0	103.0					4																	146791485		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146791485G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1893C>T	4.37:g.146791485G>A						ZNF827_uc003ikm.3_Silent_p.D631D|ZNF827_uc010iox.3_Silent_p.D281D	p.D631D	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1941	-	all_hematologic(180;0.151)		631					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.1893C>T																																																																																					0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
IL31RA	133396	broad.mit.edu	37	5	55203287	55203287	+	Splice_Site	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:55203287C>T	ENST00000447346.2	+	10	1418	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	IL31RA_ENST00000359040.5_Splice_Site_p.G451G|IL31RA_ENST00000396834.1_Splice_Site_p.G432G|IL31RA_ENST00000297015.3_Splice_Site_p.G309G|IL31RA_ENST00000396836.2_Splice_Site_p.G451G|IL31RA_ENST00000490985.1_Splice_Site_p.G309G|IL31RA_ENST00000354961.4_Splice_Site_p.G432G	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	419	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463																																						uc003jql.3																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.e10+1		Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.							99.0	87.0	91.0					5																	55203287		2203	4300	6503	SO:0001630	splice_region_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55203287C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1354+1C>T	5.37:g.55203287C>T						IL31RA_uc003jqk.3_Splice_Site_p.V452_splice|IL31RA_uc011cqj.2_Splice_Site_p.V310_splice|IL31RA_uc003jqm.3_Splice_Site_p.V433_splice|IL31RA_uc003jqn.3_Splice_Site_p.V452_splice|IL31RA_uc010iwa.1_Splice_Site_p.V420_splice|IL31RA_uc021xyq.1_Splice_Site_p.V433_splice|IL31RA_uc003jqo.3_Splice_Site_p.V310_splice	p.V452_splice	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN			10	1546	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	420			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.1354_splice	CCDS3970.2																																																																																				0.463	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	Silent
FBN2	2201	broad.mit.edu	37	5	127624839	127624839	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:127624839T>C	ENST00000508053.1	-	58	7591	c.6617A>G	c.(6616-6618)tAc>tGc	p.Y2206C	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2206C			P35556	FBN2_HUMAN	fibrillin 2	2206	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACTCCAGTGTAGTCAAGGTT	0.428																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6616-6618)tAc>tGc		Homo sapiens fibrillin 2 (FBN2), mRNA.							159.0	144.0	149.0					5																	127624839		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127624839T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6617A>G	5.37:g.127624839T>C	ENSP00000424571:p.Tyr2206Cys						p.Y2206C	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	51	7056	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2206			EGF-like 36; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6617A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100876	0.56183	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91843	-2.92;-2.92	5.87	5.87	0.94306	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.106874	0.42548	D	0.000694	D	0.90082	0.6902	N	0.17082	0.46	0.35264	D	0.779854	D	0.64830	0.994	P	0.57371	0.819	D	0.92160	0.5735	10	0.40728	T	0.16	.	12.2561	0.54625	0.1341:0.0:0.0:0.8659	.	2206	P35556	FBN2_HUMAN	C	2206	ENSP00000262464:Y2206C;ENSP00000424571:Y2206C	ENSP00000262464:Y2206C	Y	-	2	0	FBN2	127652738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.276000	0.33156	2.371000	0.80710	0.533000	0.62120	TAC		0.428	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
DSP	1832	broad.mit.edu	37	6	7581687	7581687	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:7581687A>T	ENST00000379802.3	+	23	5605	c.5264A>T	c.(5263-5265)cAg>cTg	p.Q1755L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1755	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTAAGGAGCCAGCTGCAGATC	0.483																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5263-5265)cAg>cTg		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							88.0	95.0	92.0					6																	7581687		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581687A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5264A>T	6.37:g.7581687A>T	ENSP00000369129:p.Gln1755Leu					DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	p.Q1755L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	22	5543	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1755			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5264A>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693298	0.68386	.	.	ENSG00000096696	ENST00000379802	T	0.74209	-0.82	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000012	T	0.72961	0.3526	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	P	0.58391	0.838	T	0.70407	-0.4880	10	0.25106	T	0.35	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	1755	P15924	DESP_HUMAN	L	1755	ENSP00000369129:Q1755L	ENSP00000369129:Q1755L	Q	+	2	0	DSP	7526686	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.572000	0.82409	2.307000	0.77673	0.529000	0.55759	CAG		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
ZNF184	7738	broad.mit.edu	37	6	27419109	27419109	+	Silent	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:27419109T>C	ENST00000211936.6	-	6	2513	c.2229A>G	c.(2227-2229)aaA>aaG	p.K743K	ZNF184_ENST00000377419.1_Silent_p.K743K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCTGATGTTTGTTGAGAG	0.378																																						uc003njj.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(2227-2229)aaA>aaG		Homo sapiens zinc finger protein 184 (ZNF184), mRNA.							153.0	150.0	151.0					6																	27419109		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419109T>C	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2229A>G	6.37:g.27419109T>C						ZNF184_uc010jqv.3_Silent_p.K743K|ZNF184_uc003nji.3_Silent_p.K743K	p.K743K	NM_007149	NP_009080	Q99676	ZN184_HUMAN			4	3040	-			743					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.2229A>G	CCDS4624.1																																																																																				0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
PKHD1	5314	broad.mit.edu	37	6	51777281	51777281	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51777281G>T	ENST00000371117.3	-	38	6490	c.6215C>A	c.(6214-6216)cCt>cAt	p.P2072H	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2072H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2072					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCATCCCCAGGGTTCCAGTC	0.478																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6214-6216)cCt>cAt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							166.0	152.0	157.0					6																	51777281		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51777281G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6215C>A	6.37:g.51777281G>T	ENSP00000360158:p.Pro2072His					PKHD1_uc010jzn.1_Missense_Mutation_p.P97H|PKHD1_uc003pai.3_Missense_Mutation_p.P2072H	p.P2072H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			37	6491	-	Lung NSC(77;0.0605)		2072					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6215C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783155	0.70222	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87887	-2.12;-2.31	5.99	4.14	0.48551	.	0.814212	0.11490	N	0.558825	D	0.87446	0.6179	M	0.74881	2.28	0.27611	N	0.948656	D;D;D	0.76494	0.997;0.979;0.999	P;P;P	0.59761	0.809;0.652;0.863	T	0.78740	-0.2086	10	0.52906	T	0.07	.	9.5115	0.39080	0.0:0.1557:0.6825:0.1618	.	2072;2072;2072	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	H	2072	ENSP00000360158:P2072H;ENSP00000341097:P2072H	ENSP00000341097:P2072H	P	-	2	0	PKHD1	51885240	0.911000	0.30947	0.735000	0.30896	0.980000	0.70556	3.624000	0.54231	0.790000	0.33803	0.655000	0.94253	CCT		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51947232	51947232	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51947232A>G	ENST00000371117.3	-	4	514	c.239T>C	c.(238-240)tTt>tCt	p.F80S	PKHD1_ENST00000340994.4_Missense_Mutation_p.F80S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	80	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAACAGGAAAGACGTCACA	0.502																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(238-240)tTt>tCt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							176.0	181.0	180.0					6																	51947232		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947232A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.239T>C	6.37:g.51947232A>G	ENSP00000360158:p.Phe80Ser					PKHD1_uc003pai.3_Missense_Mutation_p.F80S	p.F80S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			3	515	-	Lung NSC(77;0.0605)		80			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.239T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	5.315	0.243472	0.10077	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86097	-1.86;-2.07	5.56	0.64	0.17752	.	0.955210	0.08751	N	0.899093	T	0.26376	0.0644	N	0.00230	-1.795	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39761	-0.9598	10	0.06757	T	0.87	.	8.7903	0.34845	0.3779:0.0:0.6221:0.0	.	80;80	P08F94-2;P08F94	.;PKHD1_HUMAN	S	80	ENSP00000360158:F80S;ENSP00000341097:F80S	ENSP00000341097:F80S	F	-	2	0	PKHD1	52055191	0.260000	0.24053	0.017000	0.16124	0.517000	0.34286	0.232000	0.17891	0.099000	0.17552	-0.371000	0.07208	TTT		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
COL10A1	1300	broad.mit.edu	37	6	116442879	116442879	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:116442879G>A	ENST00000327673.4	-	2	807	c.400C>T	c.(400-402)Cta>Tta	p.L134L	AL121963.1_ENST00000430695.1_Missense_Mutation_p.R87K|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.L134L			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	134	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTCCTGGTAGGCCAGCTGGT	0.602																																						uc003pwm.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(400-402)Cta>Tta		Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.							58.0	52.0	54.0					6																	116442879		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442879G>A		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.400C>T	6.37:g.116442879G>A						NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	p.L134L	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	496	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	134			Triple-helical region.		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.400C>T	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	G	0.741	-0.776452	0.02951	.	.	ENSG00000234188	ENST00000430695	.	.	.	5.55	1.84	0.25277	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	5	0.02654	T	1	.	7.1006	0.25336	0.521:0.0:0.479:0.0	.	.	.	.	K	87	.	ENSP00000415795:R87K	R	+	2	0	AL121963.1	116549572	0.998000	0.40836	0.994000	0.49952	0.417000	0.31264	2.942000	0.49018	0.458000	0.26988	-0.302000	0.09304	AGG		0.602	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1		
AGMO	392636	broad.mit.edu	37	7	15599842	15599842	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:15599842G>T	ENST00000342526.3	-	2	350	c.181C>A	c.(181-183)Ctc>Atc	p.L61I		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	61					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTCCTTTGAGAATCCAGCTG	0.438																																						uc003stb.1																			0		p.I60F(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(181-183)Ctc>Atc		Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.							101.0	94.0	97.0					7																	15599842		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15599842G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.181C>A	7.37:g.15599842G>T	ENSP00000341662:p.Leu61Ile						p.L61I	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			1	351	-			61					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.181C>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	7.681	0.689034	0.14973	.	.	ENSG00000187546	ENST00000342526	T	0.32272	1.46	5.93	4.12	0.48240	.	1.039930	0.07464	N	0.901105	T	0.26629	0.0651	L	0.42245	1.32	0.20926	N	0.999825	B	0.06786	0.001	B	0.04013	0.001	T	0.30822	-0.9965	10	0.22706	T	0.39	-15.8475	7.6058	0.28101	0.1348:0.0:0.7305:0.1348	.	61	Q6ZNB7	ALKMO_HUMAN	I	61	ENSP00000341662:L61I	ENSP00000341662:L61I	L	-	1	0	AGMO	15566367	0.651000	0.27340	0.571000	0.28486	0.158000	0.22134	0.983000	0.29552	0.821000	0.34540	-0.150000	0.13652	CTC		0.438	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
COBL	23242	broad.mit.edu	37	7	51287539	51287539	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:51287539C>A	ENST00000265136.7	-	2	309	c.144G>T	c.(142-144)caG>caT	p.Q48H	COBL_ENST00000441453.1_Missense_Mutation_p.Q48H|COBL_ENST00000395540.2_Missense_Mutation_p.Q48H|COBL_ENST00000395542.2_Missense_Mutation_p.Q48H	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	48					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCAAGTTCTGCTGCGACCCGA	0.632																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tps.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(142-144)caG>caT		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							57.0	56.0	57.0					7																	51287539		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51287539C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.144G>T	7.37:g.51287539C>A	ENSP00000265136:p.Gln48His					COBL_uc003tpr.4_Missense_Mutation_p.Q48H|COBL_uc011kcl.2_Missense_Mutation_p.Q48H|COBL_uc010kzc.3_Missense_Mutation_p.Q48H|COBL_uc003tpt.3_Missense_Mutation_p.Q48H	p.Q48H	NM_015198	NP_056013	O75128	COBL_HUMAN			1	329	-	Glioma(55;0.08)		48					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.144G>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.274021	0.10403	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.12255	2.74;2.7	5.59	0.295	0.15752	Cordon-bleu domain (1);	0.555863	0.15079	N	0.281761	T	0.08044	0.0201	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.25955	0.053;0.003;0.138;0.06	B;B;B;B	0.24394	0.053;0.003;0.053;0.048	T	0.28267	-1.0049	10	0.45353	T	0.12	.	4.7628	0.13116	0.0:0.451:0.297:0.252	.	48;48;48;48	O75128-3;O75128-5;O75128-7;O75128	.;.;.;COBL_HUMAN	H	48;48;48;48;32	ENSP00000265136:Q48H;ENSP00000378912:Q48H	ENSP00000265136:Q48H	Q	-	3	2	COBL	51255033	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.994000	0.03716	0.097000	0.17492	0.655000	0.94253	CAG		0.632	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
PHF2	5253	broad.mit.edu	37	9	96421820	96421820	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:96421820C>T	ENST00000359246.4	+	11	1634	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	423					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGACGAGCTCCCGGAGCACTT	0.612																																						uc004aub.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1267-1269)Ccg>Tcg		Homo sapiens PHD finger protein 2 (PHF2), mRNA.							62.0	57.0	58.0					9																	96421820		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96421820C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1267C>T	9.37:g.96421820C>T	ENSP00000352185:p.Pro423Ser					PHF2_uc011lug.1_Missense_Mutation_p.P306S	p.P423S	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	10	1414	+		Myeloproliferative disorder(762;0.0255)	423					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1267C>T	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411319	0.83340	.	.	ENSG00000197724	ENST00000359246	T	0.60040	0.22	4.42	4.42	0.53409	.	0.054234	0.85682	N	0.000000	T	0.76069	0.3936	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80291	-0.1444	10	0.87932	D	0	-17.4469	17.2089	0.86925	0.0:1.0:0.0:0.0	.	423	O75151	PHF2_HUMAN	S	423	ENSP00000352185:P423S	ENSP00000352185:P423S	P	+	1	0	PHF2	95461641	1.000000	0.71417	0.996000	0.52242	0.678000	0.39670	7.351000	0.79395	2.280000	0.76307	0.297000	0.19635	CCG		0.612	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
LPAR1	1902	broad.mit.edu	37	9	113703965	113703965	+	Missense_Mutation	SNP	C	C	T	rs372111806		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:113703965C>T	ENST00000374431.3	-	4	912	c.529G>A	c.(529-531)Gtt>Att	p.V177I	LPAR1_ENST00000374430.2_Missense_Mutation_p.V177I|LPAR1_ENST00000541779.1_Missense_Mutation_p.V178I|LPAR1_ENST00000358883.4_Missense_Mutation_p.V177I|LPAR1_ENST00000538760.1_Missense_Mutation_p.V178I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	177					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.V177I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCACCCATAACGATGGCCATA	0.498																																					NSCLC(115;661 2323 9836 34256)	uc011lwo.2																			1	Substitution - Missense(1)	p.V177I(2)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(532-534)Gtt>Att		Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	152.0	139.0	144.0		529,529	4.6	0.8	9		144	0,8600		0,0,4300	no	missense,missense	LPAR1	NM_001401.3,NM_057159.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	177/365,177/365	113703965	1,13005	2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703965C>T	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.529G>A	9.37:g.113703965C>T	ENSP00000363553:p.Val177Ile					LPAR1_uc004bfa.3_Missense_Mutation_p.V177I|LPAR1_uc011lwm.2_Missense_Mutation_p.V178I|LPAR1_uc004bfc.3_Missense_Mutation_p.V177I|LPAR1_uc011lwn.2_Missense_Mutation_p.V159I|LPAR1_uc004bfb.3_Missense_Mutation_p.V177I|LPAR1_uc010mub.3_Missense_Mutation_p.V177I	p.V178I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			1	534	-			177					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.532G>A	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	5.776	0.327531	0.10956	2.27E-4	0.0	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.12611	0.24	0.50467	D	0.99987	B;B;B	0.12630	0.001;0.002;0.006	B;B;B	0.11329	0.002;0.006;0.006	T	0.08006	-1.0743	10	0.02654	T	1	.	13.2424	0.60004	0.0:0.924:0.0:0.076	.	178;178;177	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	I	177;178;177;177;159;178;177	ENSP00000363553:V177I;ENSP00000445697:V178I;ENSP00000363552:V177I;ENSP00000351755:V177I;ENSP00000440201:V178I;ENSP00000401810:V177I	ENSP00000351755:V177I	V	-	1	0	LPAR1	112743786	0.986000	0.35501	0.815000	0.32552	0.987000	0.75469	2.705000	0.47127	1.354000	0.45846	0.655000	0.94253	GTT		0.498	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
CNTRL	11064	broad.mit.edu	37	9	123930543	123930543	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:123930543C>G	ENST00000373855.1	+	38	6274	c.6014C>G	c.(6013-6015)aCt>aGt	p.T2005S	CNTRL_ENST00000238341.5_Missense_Mutation_p.T2005S|CNTRL_ENST00000373850.1_Missense_Mutation_p.T1453S|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2005	Required for centrosome localization.|Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGTGTTAGGACTCTGCAGGAA	0.498																																						uc004bkx.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6013-6015)aCt>aGt		Homo sapiens centriolin (CNTRL), mRNA.							120.0	121.0	121.0					9																	123930543		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123930543C>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6014C>G	9.37:g.123930543C>G	ENSP00000362962:p.Thr2005Ser					CNTRL_uc004blb.1_Missense_Mutation_p.T674S|CNTRL_uc010mvp.1_5'UTR	p.T2005S	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			35	6045	+			2005			Required for centrosome localization.|Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6014C>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	3.553	-0.091366	0.07053	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.30981	1.81;1.81;1.51	6.16	2.29	0.28610	.	.	.	.	.	T	0.22322	0.0538	L	0.53249	1.67	0.09310	N	1	B	0.24483	0.104	B	0.25140	0.058	T	0.37502	-0.9703	9	0.09590	T	0.72	.	3.1866	0.06603	0.1788:0.525:0.1002:0.1961	.	2005	Q7Z7A1	CNTRL_HUMAN	S	2005;2005;2005;761;162;1453;687	ENSP00000362962:T2005S;ENSP00000238341:T2005S;ENSP00000362956:T1453S	ENSP00000238341:T2005S	T	+	2	0	CNTRL	122970364	0.003000	0.15002	0.002000	0.10522	0.476000	0.33039	0.345000	0.19979	-0.020000	0.14032	-0.813000	0.03139	ACT		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
DCAF8L1	139425	broad.mit.edu	37	X	27999269	27999269	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:27999269G>A	ENST00000441525.1	-	1	297	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	61										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGCTGGCATCGTTCAGGAAAC	0.507																																						uc004dbx.1																			0		p.L60M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(181-183)aaC>aaT		Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.							155.0	113.0	127.0					X																	27999269		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27999269G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.183C>T	X.37:g.27999269G>A							p.N61N	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			0	298	-			61					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.183C>T	CCDS35222.1																																																																																				0.507	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
SSX5	6758	broad.mit.edu	37	X	48053576	48053576	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:48053576C>T	ENST00000376923.1	-	3	268	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SSX5_ENST00000347757.1_Missense_Mutation_p.R90H|SSX5_ENST00000311798.1_Missense_Mutation_p.R131H			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATTCCCACGGTTAGGGTC	0.498																																						uc004diz.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(391-393)cGt>cAt		Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.							105.0	94.0	98.0					X																	48053576		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053576C>T	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.269G>A	X.37:g.48053576C>T	ENSP00000366122:p.Arg90His					SSX5_uc004dja.1_Missense_Mutation_p.R90H	p.R131H	NM_021015	NP_066295	O60225	SSX5_HUMAN			4	445	-			90					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.392G>A	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	0.036	-1.306713	0.01353	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.08807	3.05;3.1;3.1	1.72	-3.44	0.04796	.	5.477240	0.00357	N	0.000034	T	0.04227	0.0117	N	0.11313	0.125	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.004;0.004	T	0.38929	-0.9638	10	0.10111	T	0.7	.	5.0234	0.14372	0.0:0.2787:0.2134:0.5079	.	90;131	O60225;O60225-2	SSX5_HUMAN;.	H	131;90;90	ENSP00000312415:R131H;ENSP00000366122:R90H;ENSP00000290558:R90H	ENSP00000312415:R131H	R	-	2	0	SSX5	47938520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.490000	0.00975	-3.526000	0.00147	-1.200000	0.01667	CGT		0.498	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015	
MUM1L1	139221	broad.mit.edu	37	X	105450536	105450536	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:105450536G>A	ENST00000357175.2	+	4	1760	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MUM1L1_ENST00000337685.2_Missense_Mutation_p.D371N|MUM1L1_ENST00000372552.1_Missense_Mutation_p.D371N	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	371						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTATTAGATGATGATGAGGA	0.368																																						uc022cca.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1111-1113)Gat>Aat		Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.							37.0	32.0	33.0					X																	105450536		1861	4095	5956	SO:0001583	missense	139221							g.chrX:105450536G>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1111G>A	X.37:g.105450536G>A	ENSP00000349699:p.Asp371Asn					MUM1L1_uc004emg.2_Missense_Mutation_p.D371N|MUM1L1_uc004emf.2_Missense_Mutation_p.D371N	p.D371N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN			0	1111	+			371					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1111G>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	9.070	0.996653	0.19043	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.26810	1.71;1.71;1.71	4.45	3.57	0.40892	.	0.504060	0.18092	N	0.151977	T	0.19087	0.0458	L	0.41236	1.265	0.09310	N	0.999998	B	0.16802	0.019	B	0.17433	0.018	T	0.14282	-1.0478	10	0.34782	T	0.22	-7.3441	6.7254	0.23353	0.13:0.0:0.87:0.0	.	371	Q5H9M0	MUML1_HUMAN	N	371	ENSP00000349699:D371N;ENSP00000338641:D371N;ENSP00000361632:D371N	ENSP00000338641:D371N	D	+	1	0	MUM1L1	105337192	0.886000	0.30341	0.388000	0.26195	0.031000	0.12232	1.767000	0.38501	1.183000	0.42943	0.600000	0.82982	GAT		0.368	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
LAMP2	3920	broad.mit.edu	37	X	119589247	119589247	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:119589247C>A	ENST00000200639.4	-	3	498	c.362G>T	c.(361-363)gGt>gTt	p.G121V	LAMP2_ENST00000434600.2_Missense_Mutation_p.G121V|LAMP2_ENST00000540603.1_Missense_Mutation_p.G74V|LAMP2_ENST00000371335.4_Missense_Mutation_p.G121V|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	121	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGTGTTATCACCAGTGTTGTA	0.363																																						uc004ess.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(361-363)gGt>gTt		Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.							139.0	121.0	127.0					X																	119589247		2203	4300	6503	SO:0001583	missense	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119589247C>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.362G>T	X.37:g.119589247C>A	ENSP00000200639:p.Gly121Val					LAMP2_uc004est.4_Missense_Mutation_p.G121V|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.G74V|LAMP2_uc010nqp.1_Missense_Mutation_p.G121V	p.G121V	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN			2	542	-			121			First lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.362G>T	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606054	0.28623	.	.	ENSG00000005893	ENST00000434600;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.45	0.308	0.15815	.	0.927737	0.09374	N	0.810832	T	0.23572	0.0570	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.33266	0.25;0.404;0.25;0.25	B;B;B;B	0.36719	0.152;0.148;0.231;0.152	T	0.27262	-1.0079	10	0.39692	T	0.17	-0.2186	5.2014	0.15267	0.0:0.404:0.1429:0.4531	.	74;121;121;121	B4E2S7;P13473-2;P13473;Q6Q3G8	.;.;LAMP2_HUMAN;.	V	121;121;121;74	ENSP00000408411:G121V;ENSP00000200639:G121V;ENSP00000360386:G121V;ENSP00000440479:G74V	ENSP00000200639:G121V	G	-	2	0	LAMP2	119473275	0.001000	0.12720	0.000000	0.03702	0.866000	0.49608	-0.675000	0.05227	-0.425000	0.07371	0.600000	0.82982	GGT		0.363	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1		
