#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
COL16A1	1307	broad.mit.edu	37	1	32163660	32163660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:32163660C>T	ENST00000373672.3	-	6	1020	c.504G>A	c.(502-504)tgG>tgA	p.W168*	COL16A1_ENST00000373668.3_Nonsense_Mutation_p.W168*|COL16A1_ENST00000271069.6_Nonsense_Mutation_p.W168*	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	168	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCAGCTTGTGCCAACGCAAGT	0.642																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			0				ovary(8)	8						c.(502-504)TGG>TGA		alpha 1 type XVI collagen precursor							43.0	50.0	47.0					1																	32163660		2166	4263	6429	SO:0001587	stop_gained	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32163660C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.504G>A	1.37:g.32163660C>T	ENSP00000362776:p.Trp168*					COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Nonsense_Mutation_p.W168*	p.W168*	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	6	869	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	168			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Nonsense_Mutation	SNP	ENST00000373672.3	37	c.504G>A	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	41	8.589940	0.98875	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2316	0.86985	0.0:1.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000271069:W168X	W	-	3	0	COL16A1	31936247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.262000	0.72514	2.455000	0.83008	0.561000	0.74099	TGG		0.642	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
FGGY	55277	broad.mit.edu	37	1	59805657	59805657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:59805657C>T	ENST00000303721.7	+	3	403	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371218.4_Nonsense_Mutation_p.Q77*	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	77					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGATTTAAACCAAATTCGAGG	0.363																																						uc001czi.3																			0				ovary(1)	1						c.(229-231)CAA>TAA		FGGY carbohydrate kinase domain containing							127.0	111.0	116.0					1																	59805657		1568	3582	5150	SO:0001587	stop_gained	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59805657C>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.229C>T	1.37:g.59805657C>T	ENSP00000305922:p.Gln77*					FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Nonsense_Mutation_p.Q77*|FGGY_uc001czj.3_Nonsense_Mutation_p.Q77*|FGGY_uc001czk.3_5'UTR|FGGY_uc001czl.3_Intron	p.Q77*	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			3	441	+	all_cancers(7;7.36e-05)		77					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Nonsense_Mutation	SNP	ENST00000303721.7	37	c.229C>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533149	0.85812	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721	.	.	.	5.36	3.45	0.39498	.	0.387780	0.26875	N	0.022051	.	.	.	.	.	.	0.20638	N	0.999871	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4176	6.5518	0.22438	0.1507:0.7006:0.0:0.1487	.	.	.	.	X	77	.	.	Q	+	1	0	FGGY	59578245	0.041000	0.20044	0.062000	0.19696	0.994000	0.84299	1.704000	0.37857	1.486000	0.48398	0.561000	0.74099	CAA		0.363	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	
MSH4	4438	broad.mit.edu	37	1	76349367	76349367	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:76349367A>T	ENST00000263187.3	+	15	2072	c.1968A>T	c.(1966-1968)aaA>aaT	p.K656N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	656					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTTGAAAAAATATCTGCGG	0.313								Mismatch excision repair (MMR)																														uc001dhd.1																			0				lung(3)|ovary(2)	5						c.(1966-1968)AAA>AAT	MMR	mutS homolog 4							78.0	81.0	80.0					1																	76349367		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76349367A>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1968A>T	1.37:g.76349367A>T	ENSP00000263187:p.Lys656Asn						p.K656N	NM_002440	NP_002431	O15457	MSH4_HUMAN			15	2009	+			656					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1968A>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808645	0.50421	.	.	ENSG00000057468	ENST00000263187	D	0.86562	-2.14	5.84	4.72	0.59763	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.172811	0.48767	D	0.000167	T	0.69806	0.3152	L	0.28344	0.845	0.38035	D	0.935281	B	0.26602	0.154	B	0.29267	0.1	T	0.73553	-0.3946	10	0.72032	D	0.01	-25.1358	8.0392	0.30511	0.8581:0.0:0.1419:0.0	.	656	O15457	MSH4_HUMAN	N	656	ENSP00000263187:K656N	ENSP00000263187:K656N	K	+	3	2	MSH4	76121955	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.095000	0.41729	2.224000	0.72417	0.491000	0.48974	AAA		0.313	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
SYCP1	6847	broad.mit.edu	37	1	115487554	115487554	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:115487554G>A	ENST00000369522.3	+	25	2345	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	SYCP1_ENST00000369518.1_Missense_Mutation_p.R702Q	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	702					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGATAAGCGATGTCAACAT	0.254																																						uc001efr.2																			0				skin(1)	1						c.(2104-2106)CGA>CAA		synaptonemal complex protein 1							39.0	40.0	40.0					1																	115487554		2200	4285	6485	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115487554G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2105G>A	1.37:g.115487554G>A	ENSP00000358535:p.Arg702Gln					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R702Q|SYCP1_uc009wgw.2_Missense_Mutation_p.R702Q	p.R702Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	2314	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	702			Potential.		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2105G>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478890	0.84747	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57107	0.42;0.42;0.42	4.91	4.91	0.64330	.	0.080155	0.50627	D	0.000118	T	0.63954	0.2555	M	0.67953	2.075	0.34182	D	0.671088	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65376	-0.6183	10	0.39692	T	0.17	-5.3104	17.6979	0.88286	0.0:0.0:1.0:0.0	.	702;702	B7ZLS9;Q15431	.;SYCP1_HUMAN	Q	702	ENSP00000358535:R702Q;ENSP00000410011:R702Q;ENSP00000358531:R702Q	ENSP00000358531:R702Q	R	+	2	0	SYCP1	115289077	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.130000	0.64745	2.268000	0.75426	0.650000	0.86243	CGA		0.254	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
PTGFRN	5738	broad.mit.edu	37	1	117484643	117484643	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:117484643G>T	ENST00000393203.2	+	2	503	c.356G>T	c.(355-357)tGt>tTt	p.C119F		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	119	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CACTACAAATGTTCAACCCCC	0.562																																						uc001egv.1																			0				liver(1)	1						c.(355-357)TGT>TTT		prostaglandin F2 receptor negative regulator							111.0	103.0	106.0					1																	117484643		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484643G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.356G>T	1.37:g.117484643G>T	ENSP00000376899:p.Cys119Phe						p.C119F	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	493	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	119			Extracellular (Potential).|Ig-like C2-type 1.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.356G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091855	0.76756	.	.	ENSG00000134247	ENST00000393203	T	0.31247	1.5	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54549	-0.8277	10	0.66056	D	0.02	-19.7906	16.3503	0.83202	0.0:0.0:1.0:0.0	.	119	Q9P2B2	FPRP_HUMAN	F	119	ENSP00000376899:C119F	ENSP00000376899:C119F	C	+	2	0	PTGFRN	117286166	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	8.381000	0.90152	2.546000	0.85860	0.467000	0.42956	TGT		0.562	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440	
PRG4	10216	broad.mit.edu	37	1	186276526	186276526	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:186276526G>A	ENST00000445192.2	+	7	1720	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.E466K|PRG4_ENST00000367483.4_Missense_Mutation_p.E518K|PRG4_ENST00000367486.3_Missense_Mutation_p.E516K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	559	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACCAAGGAGCCTGCACC	0.637																																						uc001gru.3																			0				skin(1)	1						c.(1675-1677)GAG>AAG		proteoglycan 4 isoform A							122.0	115.0	118.0					1																	186276526		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276526G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1675G>A	1.37:g.186276526G>A	ENSP00000399679:p.Glu559Lys					PRG4_uc001grt.3_Missense_Mutation_p.E518K|PRG4_uc009wyl.2_Missense_Mutation_p.E466K|PRG4_uc009wym.2_Missense_Mutation_p.E425K|PRG4_uc010poo.1_Intron	p.E559K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1726	+			559			28.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1675G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922315	0.17982	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04970	3.52;3.62;3.52;3.63	3.73	-1.24	0.09435	.	.	.	.	.	T	0.04543	0.0124	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.24258	0.1;0.1;0.012;0.046	B;B;B;B	0.18263	0.021;0.021;0.006;0.014	T	0.43310	-0.9399	8	.	.	.	.	3.2181	0.06706	0.1432:0.1399:0.5736:0.1433	.	425;466;559;518	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	516;425;518;466;559	ENSP00000356456:E516K;ENSP00000356453:E518K;ENSP00000356455:E466K;ENSP00000399679:E559K	.	E	+	1	0	PRG4	184543149	0.188000	0.23250	0.000000	0.03702	0.000000	0.00434	3.953000	0.56699	-0.079000	0.12707	-0.656000	0.03901	GAG		0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
CR2	1380	broad.mit.edu	37	1	207649599	207649599	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:207649599C>T	ENST00000367058.3	+	14	2749	c.2560C>T	c.(2560-2562)Ccg>Tcg	p.P854S	CR2_ENST00000367059.3_Intron|CR2_ENST00000458541.2_Missense_Mutation_p.P827S|CR2_ENST00000367057.3_Missense_Mutation_p.P913S	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	854	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGTCCACCTCCGCCTAAGAC	0.493																																						uc001hfw.2																			0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2560-2562)CCG>TCG		complement component (3d/Epstein Barr virus)							142.0	126.0	131.0					1																	207649599		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207649599C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2560C>T	1.37:g.207649599C>T	ENSP00000356025:p.Pro854Ser					CR2_uc001hfv.2_Missense_Mutation_p.P913S|CR2_uc009xch.2_Intron	p.P854S	NM_001877	NP_001868	P20023	CR2_HUMAN			14	2654	+			854			Sushi 14.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2560C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988593	0.53934	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000458541	D;D;D	0.84516	-1.86;-1.86;-1.86	4.78	4.78	0.61160	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.94666	0.8280	H	0.97103	3.94	0.42561	D	0.993143	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95589	0.8653	9	0.54805	T	0.06	.	14.0291	0.64604	0.0:1.0:0.0:0.0	.	854;913	P20023;P20023-3	CR2_HUMAN;.	S	854;913;827	ENSP00000356025:P854S;ENSP00000356024:P913S;ENSP00000404222:P827S	ENSP00000356024:P913S	P	+	1	0	CR2	205716222	0.212000	0.23540	0.212000	0.23672	0.470000	0.32858	1.617000	0.36943	2.595000	0.87683	0.655000	0.94253	CCG		0.493	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
ANK3	288	broad.mit.edu	37	10	61836046	61836046	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:61836046C>T	ENST00000280772.2	-	37	4784	c.4593G>A	c.(4591-4593)acG>acA	p.T1531T	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1531	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCTGATGGCGTATTAGAGG	0.443																																						uc001jky.2																			0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4591-4593)ACG>ACA		ankyrin 3 isoform 1							139.0	126.0	130.0					10																	61836046		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61836046C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4593G>A	10.37:g.61836046C>T						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.T1531T	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	4785	-			1531			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4593G>A	CCDS7258.1																																																																																				0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
TLL2	7093	broad.mit.edu	37	10	98157009	98157009	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:98157009G>A	ENST00000357947.3	-	11	1543	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	440	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACCCAGAGCCGGCTGTCCGTG	0.587																																						uc001kml.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(1318-1320)CGG>TGG		tolloid-like 2 precursor							61.0	54.0	56.0					10																	98157009		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98157009G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1318C>T	10.37:g.98157009G>A	ENSP00000350630:p.Arg440Trp					TLL2_uc009xvf.1_Missense_Mutation_p.R418W	p.R440W	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1544	-		Colorectal(252;0.0846)	440			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1318C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778161	0.70107	.	.	ENSG00000095587	ENST00000357947	T	0.19394	2.15	5.11	5.11	0.69529	CUB (5);	0.000000	0.41294	D	0.000906	T	0.31071	0.0785	M	0.88241	2.94	0.51482	D	0.999924	P	0.40282	0.711	B	0.37601	0.254	T	0.29336	-1.0015	10	0.62326	D	0.03	.	11.2005	0.48739	0.0:0.0:0.7163:0.2837	.	440	Q9Y6L7	TLL2_HUMAN	W	440	ENSP00000350630:R440W	ENSP00000350630:R440W	R	-	1	2	TLL2	98146999	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	0.819000	0.27308	2.654000	0.90174	0.650000	0.86243	CGG		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
Unknown	0	broad.mit.edu	37	10	135491123	135491123	+	IGR	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:135491123G>A								AL845259.1 (17944 upstream) : None (None downstream)																							GCCCACACCGGCGCGTGGGGA	0.786																																						uc010qvi.1																			0					0						c.(733-735)GGC>GAC		double homeobox, 4-like							12.0	12.0	12.0					10																	135491123		1087	2139	3226	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491123G>A																													10.37:g.135491123G>A							p.G245D	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	845	+			245						Missense_Mutation	SNP		37	c.734G>A																																																																																				0	0.786								
RAG1	5896	broad.mit.edu	37	11	36596877	36596877	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:36596877C>T	ENST00000299440.5	+	2	2135	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	675					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTGCCATCCTGAGTCCTCT	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2023-2025)CTG>TTG		recombination activating gene 1							59.0	53.0	55.0					11																	36596877		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596877C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2023C>T	11.37:g.36596877C>T						RAG1_uc001mwt.2_RNA	p.L675L	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2147	+	all_lung(20;0.226)	all_hematologic(20;0.107)	675					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2023C>T	CCDS7902.1																																																																																				0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs370741711		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000356696.3_Silent_p.P468P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						uc001ngy.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1402-1404)CCG>CCA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41.0	42.0	42.0					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_uc001ngz.2_Silent_p.P468P|FOLH1_uc009yly.2_Silent_p.P453P|FOLH1_uc009ylz.2_Silent_p.P453P|FOLH1_uc009yma.2_Silent_p.P160P	p.P468P	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			13	1665	-			468			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1404G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
VWF	7450	broad.mit.edu	37	12	6127888	6127888	+	Nonsense_Mutation	SNP	G	G	A	rs61750112		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:6127888G>A	ENST00000261405.5	-	28	4950	c.4696C>T	c.(4696-4698)Cga>Tga	p.R1566*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1566	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGATCTCTCGCACCCGCTGC	0.622																																						uc001qnn.1																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	GRCh37	CM061230	VWF	M	rs61750112	c.(4696-4698)CGA>TGA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						52.0	51.0	52.0					12																	6127888		2203	4300	6503	SO:0001587	stop_gained	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6127888G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4696C>T	12.37:g.6127888G>A	ENSP00000261405:p.Arg1566*					VWF_uc010set.1_Intron	p.R1566*	NM_000552	NP_000543	P04275	VWF_HUMAN			28	4946	-			1566			VWFA 2.		Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	c.4696C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	45	11.399208	0.99556	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.0	2.02	0.26589	.	0.849217	0.09701	N	0.767029	.	.	.	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.241	0.26096	0.0:0.2528:0.4028:0.3444	rs61750112	.	.	.	X	1566	.	ENSP00000261405:R1566X	R	-	1	2	VWF	5998149	0.805000	0.28982	0.698000	0.30274	0.820000	0.46376	1.212000	0.32394	1.320000	0.45209	0.549000	0.68633	CGA		0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
CD163L1	283316	broad.mit.edu	37	12	7528295	7528295	+	Splice_Site	SNP	C	C	T	rs193151180		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:7528295C>T	ENST00000313599.3	-	10	2744		c.e10+1		CD163L1_ENST00000416109.2_Splice_Site|CD163L1_ENST00000544331.1_Splice_Site|CD163L1_ENST00000396630.1_Splice_Site			Q9NR16	C163B_HUMAN	CD163 molecule-like 1							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.?(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAAATCTCACGGGAACAGAC	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qsy.2																			1	Unknown(1)		prostate(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.e10+1		scavenger receptor cysteine-rich type 1		C		1,4405	2.1+/-5.4	0,1,2202	76.0	74.0	75.0			1.9	0.0	12		75	0,8600		0,0,4300	no	splice-5	CD163L1	NM_174941.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			7528295	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7528295C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2686+1G>A	12.37:g.7528295C>T						CD163L1_uc010sge.1_Splice_Site_p.R906_splice	p.R896_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			10	2712	-								B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Splice_Site	SNP	ENST00000313599.3	37	c.2686_splice	CCDS8577.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.25	2.777979	0.49786	2.27E-4	0.0	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	2.84	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6526	0.17625	0.0:0.8364:0.0:0.1636	.	.	.	.	.	-1	.	.	.	-	.	.	CD163L1	7419562	1.000000	0.71417	0.007000	0.13788	0.829000	0.46940	3.601000	0.54059	0.503000	0.28060	0.455000	0.32223	.		0.468	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	Intron
KRT8	3856	broad.mit.edu	37	12	53294405	53294405	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:53294405G>A	ENST00000552551.1	-	5	1089	c.657C>T	c.(655-657)gaC>gaT	p.D219D	KRT8_ENST00000546897.1_Silent_p.D219D|KRT8_ENST00000293308.6_Silent_p.D219D|KRT8_ENST00000552150.1_Silent_p.D247D			P05787	K2C8_HUMAN	keratin 8	219	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	AGTTGATCTCGTCGGTCAGCC	0.572																																						uc001sbd.2																			0				ovary(1)|skin(1)	2						c.(655-657)GAC>GAT		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						105.0	103.0	103.0					12																	53294405		2203	4300	6503	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53294405G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.657C>T	12.37:g.53294405G>A						KRT8_uc009zmj.2_Silent_p.D219D|KRT8_uc009zmk.1_Silent_p.D247D|KRT8_uc009zml.1_Silent_p.D219D|KRT8_uc009zmm.1_Silent_p.D219D	p.D219D	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	4	760	-			219			Coil 1B.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.657C>T	CCDS8841.1																																																																																				0.572	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273	
IRAK3	11213	broad.mit.edu	37	12	66597512	66597512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:66597512G>A	ENST00000261233.4	+	2	576	c.155G>A	c.(154-156)tGg>tAg	p.W52*	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCAAGCAGCTGGCTGGATGTT	0.363																																						uc001sth.2																			0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(154-156)TGG>TAG		interleukin-1 receptor-associated kinase 3							65.0	62.0	63.0					12																	66597512		2203	4300	6503	SO:0001587	stop_gained	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66597512G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.155G>A	12.37:g.66597512G>A	ENSP00000261233:p.Trp52*					IRAK3_uc010ssy.1_Intron	p.W52*	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	2	257	+			52			Death.			Nonsense_Mutation	SNP	ENST00000261233.4	37	c.155G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	40	8.319843	0.98757	.	.	ENSG00000090376	ENST00000261233	.	.	.	5.93	5.93	0.95920	.	0.235349	0.38436	N	0.001692	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.2739	15.8335	0.78778	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	.	W	+	2	0	IRAK3	64883779	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.810000	0.55613	2.818000	0.97014	0.591000	0.81541	TGG		0.363	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
SBNO1	55206	broad.mit.edu	37	12	123794321	123794321	+	Silent	SNP	C	C	T	rs145298684	byFrequency	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:123794321C>T	ENST00000602398.1	-	26	3505	c.3378G>A	c.(3376-3378)gcG>gcA	p.A1126A	SBNO1_ENST00000420886.2_Silent_p.A1126A|SBNO1_ENST00000602750.1_Silent_p.A1125A|SBNO1_ENST00000267176.4_Silent_p.A1125A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1126					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAAGTGTGTCCGCAAAATACT	0.358													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18266	0.0		0.0	False		,,,				2504	0.0					uc010tap.1																			0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3376-3378)GCG>GCA		sno, strawberry notch homolog 1							160.0	158.0	159.0					12																	123794321		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794321C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3378G>A	12.37:g.123794321C>T						SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.A1125A|SBNO1_uc010taq.1_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	p.A1126A	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3378	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1126					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3378G>A	CCDS53844.1																																																																																				0.358	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.2																			10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
CLCN7	1186	broad.mit.edu	37	16	1498997	1498997	+	Silent	SNP	G	G	A	rs369837981		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1498997G>A	ENST00000382745.4	-	19	2372	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000262318.8_Silent_p.T565T|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.T565T	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	589					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGATCTTGGCGGTCATGAGCA	0.632																																						uc002clv.2																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1765-1767)ACC>ACT		chloride channel 7 isoform a		G	,	1,4397	2.1+/-5.4	0,1,2198	84.0	69.0	74.0		1695,1767	-10.5	0.4	16		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CLCN7	NM_001114331.1,NM_001287.4	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	565/782,589/806	1498997	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498997G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1767C>T	16.37:g.1498997G>A						CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_Silent_p.T37T|CLCN7_uc002clw.2_Silent_p.T565T	p.T589T	NM_001287	NP_001278	P51798	CLCN7_HUMAN			19	1877	-		Hepatocellular(780;0.0893)	589			Helical; (By similarity).		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1767C>T	CCDS32361.1																																																																																				0.632	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	
CLCN7	1186	broad.mit.edu	37	16	1510943	1510943	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1510943G>A	ENST00000382745.4	-	5	963	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CLCN7_ENST00000262318.8_Missense_Mutation_p.R96W|CLCN7_ENST00000448525.1_Missense_Mutation_p.R96W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	120					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCCACCGTCCGGAAGGCCTGC	0.682																																						uc002clv.2																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(358-360)CGG>TGG		chloride channel 7 isoform a							47.0	44.0	45.0					16																	1510943		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510943G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.358C>T	16.37:g.1510943G>A	ENSP00000372193:p.Arg120Trp					CLCN7_uc002clw.2_Missense_Mutation_p.R96W	p.R120W	NM_001287	NP_001278	P51798	CLCN7_HUMAN			5	468	-		Hepatocellular(780;0.0893)	120			Cytoplasmic (By similarity).		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.358C>T	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043517	0.55003	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.82803	-1.65;-1.65	4.7	3.72	0.42706	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	N	0.12746	0.255	0.80722	D	1	B;D	0.89917	0.042;1.0	B;D	0.67548	0.01;0.952	T	0.80353	-0.1418	10	0.37606	T	0.19	-29.1293	12.6978	0.57014	0.0:0.0:0.8338:0.1662	.	96;120	E9PDB9;P51798	.;CLCN7_HUMAN	W	96;73;120;62	ENSP00000410907:R96W;ENSP00000372193:R120W	ENSP00000262318:R73W	R	-	1	2	CLCN7	1450944	1.000000	0.71417	0.995000	0.50966	0.444000	0.32077	7.181000	0.77682	0.925000	0.37094	0.591000	0.81541	CGG		0.682	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287	
ZNF19	7567	broad.mit.edu	37	16	71509676	71509676	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:71509676G>A	ENST00000288177.5	-	6	1029	c.774C>T	c.(772-774)tcC>tcT	p.S258S	ZNF19_ENST00000565637.1_Silent_p.S216S|ZNF19_ENST00000565100.2_Silent_p.S188S|ZNF19_ENST00000564230.1_Silent_p.S258S|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TAACAAACTCGGAACTACTCG	0.438																																						uc010cgc.1																			0					0						c.(772-774)TCC>TCT		zinc finger protein 19							112.0	116.0	115.0					16																	71509676		2198	4300	6498	SO:0001819	synonymous_variant	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509676G>A	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.774C>T	16.37:g.71509676G>A						ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	p.S258S	NM_006961	NP_008892	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	1280	-		Ovarian(137;0.00965)	258			C2H2-type 4.		A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Silent	SNP	ENST00000288177.5	37	c.774C>T	CCDS10901.1																																																																																				0.438	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
CHST6	4166	broad.mit.edu	37	16	75513068	75513068	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:75513068C>T	ENST00000332272.4	-	3	838	c.659G>A	c.(658-660)cGt>cAt	p.R220H	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R220H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGTTGTCACGCGCCAGAGC	0.721																																						uc002fef.2																			0					0						c.(658-660)CGT>CAT		carbohydrate (N-acetylglucosamine 6-O)							21.0	23.0	22.0					16																	75513068		2195	4286	6481	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513068C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.659G>A	16.37:g.75513068C>T	ENSP00000328983:p.Arg220His					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R220H	p.R220H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	839	-			220			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.659G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128960	0.37533	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.97066	-4.23;-4.23	4.51	4.51	0.55191	Sulfotransferase domain (1);	0.283356	0.32175	N	0.006462	D	0.96153	0.8746	M	0.83953	2.67	0.19300	N	0.999978	P	0.42456	0.78	B	0.40565	0.333	D	0.90867	0.4743	10	0.15066	T	0.55	.	14.7052	0.69186	0.0:1.0:0.0:0.0	.	220	Q9GZX3	CHST6_HUMAN	H	220	ENSP00000328983:R220H;ENSP00000375079:R220H	ENSP00000328983:R220H	R	-	2	0	CHST6	74070569	0.943000	0.32029	0.662000	0.29724	0.835000	0.47333	3.095000	0.50235	2.048000	0.60808	0.591000	0.81541	CGT		0.721	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615	
SLC38A8	146167	broad.mit.edu	37	16	84066963	84066963	+	Missense_Mutation	SNP	G	G	A	rs200233980		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:84066963G>A	ENST00000299709.3	-	3	499	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	167					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCTCCCGCGGGGCAGACAG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		13768	0.001		0.0	False		,,,				2504	0.0					uc002fhg.1																			0					0						c.(499-501)CCG>CTG		solute carrier family 38, member 8		G	LEU/PRO	0,4400		0,0,2200	80.0	93.0	88.0		500	3.8	0.0	16		88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC38A8	NM_001080442.1	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	167/436	84066963	1,12999	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84066963G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.500C>T	16.37:g.84066963G>A	ENSP00000299709:p.Pro167Leu						p.P167L	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			3	500	-			167			Helical; (Potential).			Missense_Mutation	SNP	ENST00000299709.3	37	c.500C>T	CCDS32495.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.796	1.179268	0.21787	0.0	1.16E-4	ENSG00000166558	ENST00000299709	T	0.01725	4.67	4.77	3.8	0.43715	.	0.059794	0.64402	N	0.000002	T	0.02047	0.0064	L	0.49350	1.555	0.58432	D	0.999998	P	0.45348	0.856	B	0.39562	0.303	T	0.62101	-0.6925	10	0.10377	T	0.69	.	11.4753	0.50295	0.0892:0.0:0.9108:0.0	.	167	A6NNN8	S38A8_HUMAN	L	167	ENSP00000299709:P167L	ENSP00000299709:P167L	P	-	2	0	SLC38A8	82624464	1.000000	0.71417	0.018000	0.16275	0.011000	0.07611	5.906000	0.69900	1.111000	0.41721	0.643000	0.83706	CCG		0.652	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442	
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MSL1	339287	broad.mit.edu	37	17	38285515	38285515	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:38285515G>A	ENST00000398532.4	+	3	1325	c.1010G>A	c.(1009-1011)aGt>aAt	p.S337N	MSL1_ENST00000577454.1_Missense_Mutation_p.S337N|MSL1_ENST00000579565.1_Missense_Mutation_p.S74N|MSL1_ENST00000578648.1_Missense_Mutation_p.S337N	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	337					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCATTTGGAAGTACAGAAAGA	0.333																																						uc002hub.2																			0					0						c.(406-408)AGT>AAT		hampin							54.0	56.0	56.0					17																	38285515		1790	4064	5854	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38285515G>A		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1010G>A	17.37:g.38285515G>A	ENSP00000381543:p.Ser337Asn					MSL1_uc002hua.3_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc002hud.2_5'Flank	p.S136N	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN			3	426	+			337					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.407G>A		.	.	.	.	.	.	.	.	.	.	G	12.32	1.903991	0.33628	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.82	4.85	0.62838	.	0.272676	0.49916	N	0.000123	T	0.31231	0.0790	N	0.22421	0.69	0.30503	N	0.770236	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.08179	T	0.78	-20.1512	13.6928	0.62556	0.0757:0.0:0.9243:0.0	.	337	Q68DK7	MSL1_HUMAN	N	74;337	.	ENSP00000341409:S74N	S	+	2	0	MSL1	35539041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.857000	0.39399	1.439000	0.47511	0.563000	0.77884	AGT		0.333	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241	
IFI35	3430	broad.mit.edu	37	17	41166266	41166266	+	Missense_Mutation	SNP	G	G	A	rs375429330		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:41166266G>A	ENST00000415816.2	+	7	1034	c.811G>A	c.(811-813)Gta>Ata	p.V271I	IFI35_ENST00000438323.2_Missense_Mutation_p.V273I	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	271				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCTGACAGTCGTACCCCAAGG	0.632																																						uc010whj.1																			0				ovary(1)	1						c.(817-819)GTA>ATA		interferon-induced protein 35		T	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		817	1.6	0.1	17		59	0,8600		0,0,4300	no	missense	IFI35	NM_005533.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	273/289	41166266	1,13005	2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41166266G>A	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.811G>A	17.37:g.41166266G>A	ENSP00000394579:p.Val271Ile						p.V273I	NM_005533	NP_005524	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	7	1013	+		Breast(137;0.00499)	271	EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).				C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.817G>A		.	.	.	.	.	.	.	.	.	.	g	1.138	-0.650521	0.03506	2.27E-4	0.0	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.47528	0.84;0.84	5.8	1.64	0.23874	.	0.531595	0.20051	N	0.100299	T	0.33585	0.0868	L	0.52364	1.645	0.09310	N	1	B	0.23128	0.08	B	0.15052	0.012	T	0.17899	-1.0354	10	0.20519	T	0.43	.	4.9574	0.14048	0.2906:0.0:0.5736:0.1358	.	271	P80217	IN35_HUMAN	I	271;273	ENSP00000394579:V271I;ENSP00000395590:V273I	ENSP00000394579:V271I	V	+	1	0	IFI35	38419792	0.826000	0.29277	0.105000	0.21289	0.028000	0.11728	1.217000	0.32455	0.115000	0.18071	-2.785000	0.00117	GTA		0.632	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533	
ACE	1636	broad.mit.edu	37	17	61566027	61566027	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:61566027C>T	ENST00000290866.4	+	16	2348	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	ACE_ENST00000490216.2_Missense_Mutation_p.A201V|ACE_ENST00000428043.1_Missense_Mutation_p.A775V|ACE_ENST00000413513.3_Missense_Mutation_p.A201V|ACE_ENST00000421982.2_Missense_Mutation_p.A85V|ACE_ENST00000290863.6_Missense_Mutation_p.A201V|ACE_ENST00000577647.1_Missense_Mutation_p.A201V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	775	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATGTGATGGCCACGTCCCGG	0.542																																						uc002jau.1																			0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2323-2325)GCC>GTC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						124.0	121.0	122.0					17																	61566027		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566027C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2324C>T	17.37:g.61566027C>T	ENSP00000290866:p.Ala775Val					ACE_uc002jav.1_Missense_Mutation_p.A201V|ACE_uc010ddv.1_Missense_Mutation_p.A2V|ACE_uc010wpj.1_Missense_Mutation_p.A201V|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.A85V	p.A775V	NM_000789	NP_000780	P12821	ACE_HUMAN			16	2346	+			775			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2324C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681136	0.29872	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;1.22	5.93	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93328	3.405	0.80722	D	1	D;P;D;D	0.89917	0.974;0.767;0.976;1.0	P;P;P;D	0.80764	0.839;0.685;0.608;0.994	T	0.81625	-0.0848	10	0.72032	D	0.01	-43.9099	15.6222	0.76816	0.0:0.8635:0.1365:0.0	.	85;201;201;775	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	V	775;775;201;201;85	ENSP00000290866:A775V;ENSP00000397593:A775V;ENSP00000290863:A201V;ENSP00000392247:A201V;ENSP00000387760:A85V	ENSP00000290863:A201V	A	+	2	0	ACE	58919759	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	6.508000	0.73721	1.508000	0.48769	0.561000	0.74099	GCC		0.542	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
DSG3	1830	broad.mit.edu	37	18	29054117	29054117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:29054117C>T	ENST00000257189.4	+	15	2218	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	712					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAGGCACAGCGGTGGAAGGC	0.443																																						uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2134-2136)GCG>GTG		desmoglein 3 preproprotein							98.0	88.0	91.0					18																	29054117		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054117C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2135C>T	18.37:g.29054117C>T	ENSP00000257189:p.Ala712Val					DSG3_uc002kwt.2_5'UTR	p.A712V	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2244	+			712			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2135C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716663	0.03206	.	.	ENSG00000134757	ENST00000257189	T	0.48836	0.8	5.68	3.17	0.36434	.	0.786555	0.10639	N	0.651296	T	0.13970	0.0338	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25847	-1.0120	10	0.13853	T	0.58	.	8.7358	0.34528	0.0:0.1494:0.0:0.8506	.	712	P32926	DSG3_HUMAN	V	712	ENSP00000257189:A712V	ENSP00000257189:A712V	A	+	2	0	DSG3	27308115	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.759000	0.26461	0.434000	0.26340	-0.300000	0.09419	GCG		0.443	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
ATP5A1	498	broad.mit.edu	37	18	43667414	43667414	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:43667414C>A	ENST00000398752.6	-	7	965	c.844G>T	c.(844-846)Gct>Tct	p.A282S	ATP5A1_ENST00000590665.1_Missense_Mutation_p.A260S|ATP5A1_ENST00000282050.2_Missense_Mutation_p.A282S|ATP5A1_ENST00000593152.2_Missense_Mutation_p.A232S	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	282					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGTGGGGCAGCATCCGAGGCC	0.423																																						uc002lbr.1																			0					0						c.(844-846)GCT>TCT		ATP synthase, H+ transporting, mitochondrial F1							53.0	55.0	54.0					18																	43667414		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43667414C>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.844G>T	18.37:g.43667414C>A	ENSP00000381736:p.Ala282Ser					ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	p.A282S	NM_004046	NP_004037	P25705	ATPA_HUMAN			7	934	-			282					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.844G>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182614	0.78677	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.78364	-1.17;-1.17	4.68	4.68	0.58851	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	N	0.00926	-1.1	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	T	0.81959	-0.0694	10	0.42905	T	0.14	-18.3322	17.6211	0.88082	0.0:1.0:0.0:0.0	.	282	P25705	ATPA_HUMAN	S	282;282;232	ENSP00000282050:A282S;ENSP00000381736:A282S	ENSP00000282050:A282S	A	-	1	0	ATP5A1	41921412	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	7.734000	0.84928	2.152000	0.67230	0.563000	0.77884	GCT		0.423	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:9054252G>A	ENST00000397910.4	-	4	31573	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10459	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGCAGGCGAAGTGGATGT	0.448																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31369-31371)TCG>TTG		mucin 16							126.0	138.0	134.0					19																	9054252		1935	4142	6077	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9054252G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31370C>T	19.37:g.9054252G>A	ENSP00000381008:p.Ser10457Leu						p.S10457L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	31574	-			10459			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31370C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.596	0.110697	0.08780	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.09	2.03	0.26663	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	.	.	.	B	0.09022	0.002	B	0.08055	0.003	T	0.15150	-1.0447	8	0.87932	D	0	.	9.2027	0.37270	0.1224:0.0:0.8776:0.0	.	10457	B5ME49	.	L	10457	ENSP00000381008:S10457L	ENSP00000381008:S10457L	S	-	2	0	MUC16	8915252	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	1.322000	0.33689	0.322000	0.23283	-1.595000	0.00837	TCG		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
KXD1	79036	broad.mit.edu	37	19	18675766	18675766	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:18675766C>T	ENST00000602094.1	+	3	1649	c.189C>T	c.(187-189)ttC>ttT	p.F63F	KXD1_ENST00000539106.1_Silent_p.F63F|KXD1_ENST00000222307.4_Silent_p.F63F|KXD1_ENST00000595073.1_Silent_p.F63F|KXD1_ENST00000540691.1_Silent_p.F63F|KXD1_ENST00000598830.1_Silent_p.F63F|KXD1_ENST00000601630.1_Silent_p.F63F|KXD1_ENST00000599000.1_Silent_p.F63F|KXD1_ENST00000599319.1_Silent_p.F63F			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	63					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											GCGAACGCTTCCTGCACCACA	0.582																																						uc002njo.2																			0					0						c.(187-189)TTC>TTT		hypothetical protein LOC79036							175.0	165.0	169.0					19																	18675766		2203	4300	6503	SO:0001819	synonymous_variant	79036						protein binding	g.chr19:18675766C>T	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.189C>T	19.37:g.18675766C>T						C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.F63F	p.F63F	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN			3	331	+			63					O76098	Silent	SNP	ENST00000602094.1	37	c.189C>T	CCDS12381.1																																																																																				0.582	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069	
ZNF429	353088	broad.mit.edu	37	19	21712573	21712573	+	Missense_Mutation	SNP	C	C	A	rs183631992	byFrequency	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:21712573C>A	ENST00000358491.4	+	2	325	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF429_ENST00000597078.1_Missense_Mutation_p.N39K|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTACAGAAACTTGGTCTTCC	0.378																																						uc002nqd.1																			0				ovary(2)	2						c.(115-117)AAC>AAA		zinc finger protein 429							105.0	117.0	113.0					19																	21712573		2201	4299	6500	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21712573C>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.117C>A	19.37:g.21712573C>A	ENSP00000351280:p.Asn39Lys					ZNF429_uc010ecu.1_Missense_Mutation_p.N39K	p.N39K	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			2	254	+			39			KRAB.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.117C>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	9.202	1.028677	0.19512	.	.	ENSG00000197013	ENST00000358491	T	0.02579	4.24	0.926	-0.301	0.12800	Krueppel-associated box (4);	.	.	.	.	T	0.19846	0.0477	H	0.99074	4.42	0.09310	N	1	D	0.63046	0.992	P	0.60236	0.871	T	0.06427	-1.0827	9	0.87932	D	0	.	4.4964	0.11839	0.0:0.5525:0.0:0.4475	.	39	Q86V71	ZN429_HUMAN	K	39	ENSP00000351280:N39K	ENSP00000351280:N39K	N	+	3	2	ZNF429	21504413	0.000000	0.05858	0.560000	0.28344	0.563000	0.35712	-2.571000	0.00913	0.308000	0.22923	0.313000	0.20887	AAC		0.378	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
IGFLR1	79713	broad.mit.edu	37	19	36230669	36230669	+	Silent	SNP	G	G	A	rs377303186		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:36230669G>A	ENST00000592537.1	-	4	763	c.663C>T	c.(661-663)ggC>ggT	p.G221G	IGFLR1_ENST00000344990.3_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000246532.1_Silent_p.G221G|IGFLR1_ENST00000592889.1_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Splice_Site_p.G53G			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCTCCAGGGCGCCTGGGGAGG	0.642																																						uc002obc.2																			0					0						c.(661-663)GGC>GGT		transmembrane protein 149 precursor		G		1,4405	2.1+/-5.4	0,1,2202	69.0	79.0	76.0		663	-6.1	0.0	19		76	0,8596		0,0,4298	no	coding-synonymous	IGFLR1	NM_024660.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		221/356	36230669	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230669G>A	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.663C>T	19.37:g.36230669G>A						TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.G221G|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.G301G	p.G221G	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	764	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		221			Cytoplasmic (Potential).		Q8N5X0	Silent	SNP	ENST00000592537.1	37	c.663C>T	CCDS12472.1																																																																																				0.642	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660	
CPT1C	126129	broad.mit.edu	37	19	50208532	50208532	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:50208532C>T	ENST00000392518.4	+	10	1313	c.941C>T	c.(940-942)aCg>aTg	p.T314M	CPT1C_ENST00000598293.1_Missense_Mutation_p.T314M|CPT1C_ENST00000323446.5_Missense_Mutation_p.T314M|CPT1C_ENST00000405931.2_Missense_Mutation_p.T303M|CPT1C_ENST00000354199.5_Missense_Mutation_p.T314M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	314					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.T314K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCAACACCACGCGGATTCCA	0.552																																						uc002ppj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(940-942)ACG>ATG		carnitine palmitoyltransferase 1C isoform 2							158.0	142.0	148.0					19																	50208532		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208532C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.941C>T	19.37:g.50208532C>T	ENSP00000376303:p.Thr314Met					CPT1C_uc002ppl.3_Missense_Mutation_p.T280M|CPT1C_uc002ppi.2_Missense_Mutation_p.T231M|CPT1C_uc002ppk.2_Missense_Mutation_p.T303M|CPT1C_uc010eng.2_Missense_Mutation_p.T314M|CPT1C_uc010enh.2_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	p.T314M	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	9	1146	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	314			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.941C>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537529	0.85917	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.34	4.34	0.51931	.	0.000000	0.52532	D	0.000076	D	0.94699	0.8290	M	0.85859	2.78	0.50039	D	0.999845	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.993;0.999;0.969;0.982	D	0.95568	0.8635	10	0.87932	D	0	-21.7573	15.7686	0.78146	0.0:1.0:0.0:0.0	.	185;314;303;314	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	M	314;314;303;314;185	ENSP00000376303:T314M;ENSP00000346138:T314M;ENSP00000384465:T303M;ENSP00000319343:T314M	ENSP00000295404:T185M	T	+	2	0	CPT1C	54900344	0.998000	0.40836	0.916000	0.36221	0.992000	0.81027	4.010000	0.57117	2.260000	0.74910	0.561000	0.74099	ACG		0.552	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
SOS1	6654	broad.mit.edu	37	2	39262448	39262448	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:39262448T>C	ENST00000426016.1	-	9	1065	c.979A>G	c.(979-981)Ata>Gta	p.I327V	SOS1_ENST00000428721.2_Missense_Mutation_p.I270V|SOS1_ENST00000402219.2_Missense_Mutation_p.I327V|SOS1_ENST00000395038.2_Missense_Mutation_p.I327V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	327	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTTCGCCTATTGACTGGAAA	0.338									Noonan syndrome																													uc002rrk.3																			0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(979-981)ATA>GTA		son of sevenless homolog 1							54.0	58.0	57.0					2																	39262448		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39262448T>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.979A>G	2.37:g.39262448T>C	ENSP00000387784:p.Ile327Val					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.I59V	p.I327V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			8	1020	-		all_hematologic(82;0.21)	327			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.979A>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	6.918	0.538947	0.13250	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.72	4.55	0.56014	Dbl homology (DH) domain (5);	0.090109	0.64402	D	0.000001	T	0.45577	0.1349	L	0.27053	0.805	0.47905	D	0.999545	B;B	0.11235	0.002;0.004	B;B	0.10450	0.002;0.005	T	0.26883	-1.0090	10	0.09843	T	0.71	.	12.1827	0.54221	0.1281:0.0:0.0:0.8719	.	59;327	F5GX06;Q07889	.;SOS1_HUMAN	V	327;327;59;327;327;270	ENSP00000387784:I327V;ENSP00000384675:I327V;ENSP00000378479:I327V;ENSP00000399992:I270V	ENSP00000263879:I327V	I	-	1	0	SOS1	39115952	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.182000	0.50910	0.973000	0.38340	-0.344000	0.07964	ATA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
SLC4A5	57835	broad.mit.edu	37	2	74462257	74462257	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:74462257G>C	ENST00000377634.4	-	22	2803	c.2404C>G	c.(2404-2406)Ccc>Gcc	p.P802A	SLC4A5_ENST00000346834.4_Missense_Mutation_p.P802A|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P802A|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P802A|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P802A|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P802A|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000358683.4_Intron					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAGCTTGGGAGTTTCTAGG	0.547																																						uc002sko.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(2404-2406)CCC>GCC		sodium bicarbonate transporter 4 isoform a							149.0	115.0	127.0					2																	74462257		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74462257G>C	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2404C>G	2.37:g.74462257G>C	ENSP00000366861:p.Pro802Ala					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	p.P802A	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			17	2406	-			802			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.2404C>G	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506447	0.85282	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.8	4.8	0.61643	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	M	0.85777	2.775	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90416	0.4413	10	0.87932	D	0	.	15.7804	0.78255	0.0:0.0:1.0:0.0	.	802;802;802	Q9BY07-4;Q9BY07;Q9BY07-3	.;S4A5_HUMAN;.	A	802	ENSP00000377587:P802A;ENSP00000251768:P802A;ENSP00000395804:P802A;ENSP00000350475:P802A;ENSP00000366859:P802A;ENSP00000366861:P802A	ENSP00000251768:P802A	P	-	1	0	SLC4A5	74315765	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.519000	0.98025	2.673000	0.90976	0.650000	0.86243	CCC		0.547	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
LRP2	4036	broad.mit.edu	37	2	170092415	170092415	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:170092415G>A	ENST00000263816.3	-	29	5140	c.4855C>T	c.(4855-4857)Ctt>Ttt	p.L1619F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1619					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATGTAATCAAGATAGGAGTCC	0.453																																						uc002ues.2																			0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4855-4857)CTT>TTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						138.0	125.0	129.0					2																	170092415		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170092415G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4855C>T	2.37:g.170092415G>A	ENSP00000263816:p.Leu1619Phe						p.L1619F	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	29	5068	-			1619			LDL-receptor class B 13.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4855C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505387	0.85282	.	.	ENSG00000081479	ENST00000263816	D	0.96396	-4.0	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98136	1.0433	10	0.44086	T	0.13	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	1619	P98164	LRP2_HUMAN	F	1619	ENSP00000263816:L1619F	ENSP00000263816:L1619F	L	-	1	0	LRP2	169800661	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.361000	0.73070	2.793000	0.96121	0.655000	0.94253	CTT		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179410964	179410964	+	Silent	SNP	G	G	A	rs373509153	byFrequency	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179410964G>A	ENST00000591111.1	-	292	90395	c.90171C>T	c.(90169-90171)gcC>gcT	p.A30057A	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A22633A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.A29130A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A31698A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A22758A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Silent_p.A22825A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30057	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGACACGGCCTTGGTCC	0.428													G|||	2	0.000399361	0.0015	0.0	5008	,	,		24366	0.0		0.0	False		,,,				2504	0.0					uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(87388-87390)GCC>GCT		titin isoform N2-A		G	,,,	2,3950		0,2,1974	239.0	235.0	236.0		67899,87390,68274,68475	-11.3	0.1	2		236	0,8300		0,0,4150	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6124	AA,AG,GG		0.0,0.0506,0.0163	,,,	22633/26927,29130/33424,22758/27052,22825/27119	179410964	2,12250	1976	4150	6126	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410964G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90171C>T	2.37:g.179410964G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A22825A|TTN_uc010zfi.1_Silent_p.A22758A|TTN_uc010zfj.1_Silent_p.A22633A	p.A29130A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	87614	-			30057					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.87390C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179462736	179462736	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179462736T>A	ENST00000591111.1	-	243	52462	c.52238A>T	c.(52237-52239)aAg>aTg	p.K17413M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9989M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16486M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K19054M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10114M|TTN_ENST00000342175.6_Missense_Mutation_p.K10181M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17413	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCCTTCCTTTAATCCTGT	0.383																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49456-49458)AAG>ATG		titin isoform N2-A							231.0	230.0	230.0					2																	179462736		1855	4104	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462736T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52238A>T	2.37:g.179462736T>A	ENSP00000465570:p.Lys17413Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K10181M|TTN_uc010zfi.1_Missense_Mutation_p.K10114M|TTN_uc010zfj.1_Missense_Mutation_p.K9989M	p.K16486M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	49681	-			17413					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49457A>T		.	.	.	.	.	.	.	.	.	.	T	16.75	3.208675	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76579	0.4007	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79215	-0.1895	9	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	9989;10114;10181;17413	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16486;9989;10181;10114;9987	ENSP00000343764:K16486M;ENSP00000434586:K9989M;ENSP00000340554:K10181M;ENSP00000352154:K10114M	ENSP00000340554:K10181M	K	-	2	0	TTN	179170981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.937000	0.87672	2.371000	0.80710	0.533000	0.62120	AAG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MAP2	4133	broad.mit.edu	37	2	210518141	210518141	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:210518141G>C	ENST00000360351.4	+	4	753	c.247G>C	c.(247-249)Gac>Cac	p.D83H	MAP2_ENST00000392194.1_Missense_Mutation_p.D83H|MAP2_ENST00000199940.6_Missense_Mutation_p.D83H|MAP2_ENST00000361559.4_Missense_Mutation_p.D83H|MAP2_ENST00000447185.1_Missense_Mutation_p.D83H	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	83					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GACCTCAGCTGACAGAGAAAC	0.463																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(247-249)GAC>CAC		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						95.0	99.0	98.0					2																	210518141		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210518141G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.247G>C	2.37:g.210518141G>C	ENSP00000353508:p.Asp83His					MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	p.D83H	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	4	495	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	83					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.247G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135869	0.56936	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.01	5.01	0.66863	.	0.547248	0.16476	N	0.212771	T	0.29093	0.0723	N	0.24115	0.695	0.42476	D	0.992843	D;P;P;B;D;P	0.71674	0.998;0.729;0.884;0.38;0.998;0.877	D;B;P;B;P;B	0.65773	0.938;0.354;0.739;0.308;0.868;0.365	T	0.01839	-1.1263	10	0.29301	T	0.29	-11.3781	12.7638	0.57380	0.0816:0.0:0.9184:0.0	.	83;83;84;83;83;83	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	H	83;83;83;83;83;83;83;9	ENSP00000199940:D83H;ENSP00000376031:D83H;ENSP00000353508:D83H;ENSP00000355290:D83H;ENSP00000409969:D83H;ENSP00000376032:D83H;ENSP00000392164:D83H;ENSP00000388824:D9H	ENSP00000199940:D83H	D	+	1	0	MAP2	210226386	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.781000	0.62389	2.329000	0.79093	0.643000	0.83706	GAC		0.463	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
XKR7	343702	broad.mit.edu	37	20	30584473	30584473	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:30584473C>T	ENST00000562532.2	+	3	1127	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	318						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTTCGCGCTCTTCGCC	0.637																																						uc002wxe.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(952-954)GCG>GTG		XK, Kell blood group complex subunit-related							69.0	67.0	68.0					20																	30584473		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584473C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.953C>T	20.37:g.30584473C>T	ENSP00000477059:p.Ala318Val						p.A318V	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1127	+			318			Helical; (Potential).		Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.953C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	c	28.2	4.901380	0.92035	.	.	ENSG00000101321	ENST00000217299	T	0.65178	-0.14	5.19	5.19	0.71726	.	0.165679	0.53938	D	0.000058	T	0.74543	0.3730	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.74080	-0.3780	10	0.44086	T	0.13	.	17.7051	0.88306	0.0:1.0:0.0:0.0	.	318	Q5GH72	XKR7_HUMAN	V	318	ENSP00000217299:A318V	ENSP00000217299:A318V	A	+	2	0	XKR7	30048134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.427000	0.82271	0.556000	0.70494	GCG		0.637	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718	
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662																																						uc002xli.1																			0					0						c.(997-999)GAC>AAC		junctophilin 2 isoform 1							43.0	37.0	39.0					20																	42788430		2203	4299	6502	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788430C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.997G>A	20.37:g.42788430C>T	ENSP00000362071:p.Asp333Asn						p.D333N	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1870	-		Myeloproliferative disorder(115;0.0122)	333			MORN 8.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.997G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632685	0.87660	.	.	ENSG00000149596	ENST00000372980	T	0.58797	0.31	3.12	2.16	0.27623	.	0.115168	0.56097	N	0.000022	T	0.49440	0.1557	L	0.46614	1.455	0.80722	D	1	D	0.55172	0.97	B	0.44315	0.446	T	0.44651	-0.9314	10	0.42905	T	0.14	.	9.776	0.40618	0.0:0.8956:0.0:0.1044	.	333	Q9BR39	JPH2_HUMAN	N	333	ENSP00000362071:D333N	ENSP00000362071:D333N	D	-	1	0	JPH2	42221844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.811000	0.47986	0.492000	0.27815	0.306000	0.20318	GAC		0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
PCBP3	54039	broad.mit.edu	37	21	47349908	47349908	+	Splice_Site	SNP	C	C	A	rs371552951		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr21:47349908C>A	ENST00000400314.1	+	12	1133	c.795C>A	c.(793-795)ccC>ccA	p.P265P	PCBP3_ENST00000400310.1_Splice_Site_p.P265P|PCBP3_ENST00000449640.1_Splice_Site_p.P265P|PCBP3_ENST00000400304.1_Splice_Site_p.P255P|PCBP3_ENST00000400309.1_Splice_Site_p.P264P|PCBP3_ENST00000400308.1_Splice_Site_p.P239P|PRED62_ENST00000593412.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	265					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567																																						uc002zhq.1																			0				skin(1)	1						c.(793-795)CCC>CCA		poly(rC) binding protein 3 isoform 1							123.0	136.0	132.0					21																	47349908		2012	4170	6182	SO:0001630	splice_region_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47349908C>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.796+1C>A	21.37:g.47349908C>A						PCBP3_uc010gqb.2_Silent_p.P265P|PCBP3_uc002zhp.1_Silent_p.P265P|PCBP3_uc002zhs.1_Silent_p.P239P|PCBP3_uc002zhr.1_Silent_p.P264P|PCBP3_uc002zht.1_Silent_p.P255P	p.P265P	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	10	920	+	all_hematologic(128;0.24)		265					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.795C>A	CCDS42974.2																																																																																				0.567	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		Silent
ST3GAL6	10402	broad.mit.edu	37	3	98506930	98506930	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:98506930C>T	ENST00000483910.1	+	7	771	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.T43I|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.T161I	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	161					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGGAGAAGGACAACCTTCCGA	0.378																																						uc003dsz.2																			0				ovary(1)	1						c.(481-483)ACA>ATA		alpha2,3-sialyltransferase VI							97.0	96.0	96.0					3																	98506930		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98506930C>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.482C>T	3.37:g.98506930C>T	ENSP00000417376:p.Thr161Ile					ST3GAL6_uc003dsy.2_Missense_Mutation_p.T75I|ST3GAL6_uc003dta.2_Missense_Mutation_p.T43I|ST3GAL6_uc003dtb.2_Missense_Mutation_p.T17I|ST3GAL6_uc003dtc.2_Missense_Mutation_p.T161I|ST3GAL6_uc010hpd.2_Missense_Mutation_p.T214I	p.T161I	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			7	718	+			161			Lumenal (Potential).		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.482C>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178053	0.78564	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.80824	0.4697	H	0.94620	3.56	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85871	0.1416	10	0.87932	D	0	-39.9726	17.2504	0.87041	0.0:1.0:0.0:0.0	.	184;43;161	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	I	161;43;129;161;161;129;184;75	ENSP00000417376:T161I;ENSP00000265261:T43I;ENSP00000417584:T129I;ENSP00000418896:T161I;ENSP00000377717:T161I;ENSP00000418650:T129I;ENSP00000417201:T184I;ENSP00000419202:T75I	ENSP00000265261:T43I	T	+	2	0	ST3GAL6	99989620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.333000	0.65917	2.671000	0.90904	0.563000	0.77884	ACA		0.378	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
MYLK	4638	broad.mit.edu	37	3	123457797	123457797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:123457797G>A	ENST00000475616.1	-	4	534	c.535C>T	c.(535-537)Cga>Tga	p.R179*	MYLK_ENST00000360304.3_Nonsense_Mutation_p.R179*|MYLK_ENST00000360772.3_Nonsense_Mutation_p.R179*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.R179*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.R179*			Q15746	MYLK_HUMAN	myosin light chain kinase	179	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGAGAATCGTCCCATCTGT	0.582																																						uc003ego.2																			0				ovary(6)|skin(2)|stomach(1)	9						c.(535-537)CGA>TGA		myosin light chain kinase isoform 1							86.0	72.0	77.0					3																	123457797		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123457797G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.535C>T	3.37:g.123457797G>A	ENSP00000418335:p.Arg179*					MYLK_uc011bjw.1_Nonsense_Mutation_p.R179*|MYLK_uc003egp.2_Nonsense_Mutation_p.R179*|MYLK_uc003egq.2_Nonsense_Mutation_p.R179*|MYLK_uc003egr.2_Nonsense_Mutation_p.R179*|MYLK_uc003egs.2_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	p.R179*	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	7	817	-		Lung NSC(201;0.0496)	179			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.535C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	36	5.841707	0.97016	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2321	0.54495	0.0:0.0:0.8291:0.1709	.	.	.	.	X	179	.	ENSP00000320622:R179X	R	-	1	2	MYLK	124940487	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.638000	0.54332	2.497000	0.84241	0.655000	0.94253	CGA		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
DCUN1D4	23142	broad.mit.edu	37	4	52765498	52765498	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:52765498C>G	ENST00000334635.5	+	8	749	c.569C>G	c.(568-570)tCt>tGt	p.S190C	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.S130C|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.S234C|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.S190C	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	190	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTAAATGATTCTACAAACTTT	0.348																																						uc003gze.2																			0				ovary(2)	2						c.(568-570)TCT>TGT		DCN1, defective in cullin neddylation 1, domain							44.0	44.0	44.0					4																	52765498		2200	4297	6497	SO:0001583	missense	23142							g.chr4:52765498C>G	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.569C>G	4.37:g.52765498C>G	ENSP00000334625:p.Ser190Cys					DCUN1D4_uc003gzf.2_Missense_Mutation_p.S190C|DCUN1D4_uc011bzn.1_Missense_Mutation_p.S130C|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_RNA|DCUN1D4_uc011bzo.1_Missense_Mutation_p.S234C	p.S190C	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		8	702	+			190			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.569C>G	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816729	0.70912	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288	.	.	.	6.03	6.03	0.97812	Domain of unknown function DUF298 (2);	0.378221	0.33327	N	0.005024	T	0.66925	0.2839	L	0.56280	1.765	0.36000	D	0.837346	D;B;P	0.63046	0.992;0.143;0.716	P;B;P	0.58520	0.84;0.428;0.563	T	0.74702	-0.3576	9	0.87932	D	0	-9.7665	12.4536	0.55691	0.0:0.9236:0.0:0.0764	.	234;190;190	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	C	190;190;130;234	.	ENSP00000334625:S190C	S	+	2	0	DCUN1D4	52460255	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.900000	0.63252	2.868000	0.98415	0.557000	0.71058	TCT		0.348	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	NM_015115	
EPHA5	2044	broad.mit.edu	37	4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:66233108C>T	ENST00000273854.3	-	10	2491	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA5_ENST00000511294.1_Missense_Mutation_p.E632K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E468K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E609K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	631					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)																												uc003hcy.2																			0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1891-1893)GAA>AAA		ephrin receptor EphA5 isoform a precursor							140.0	120.0	127.0					4																	66233108		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66233108C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1891G>A	4.37:g.66233108C>T	ENSP00000273854:p.Glu631Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	p.E631K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			10	2084	-			631			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1891G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868863	0.91587	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.28	5.28	0.74379	.	0.000000	0.52532	D	0.000071	T	0.13157	0.0319	L	0.43923	1.385	0.58432	D	0.999996	B;B;P;P	0.44627	0.444;0.014;0.58;0.839	B;B;B;B	0.39379	0.206;0.017;0.281;0.298	T	0.01561	-1.1324	10	0.72032	D	0.01	.	18.5097	0.90911	0.0:1.0:0.0:0.0	.	610;632;609;631	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	631;468;609;632	ENSP00000273854:E631K;ENSP00000389208:E468K;ENSP00000346899:E609K;ENSP00000427638:E632K	ENSP00000273854:E631K	E	-	1	0	EPHA5	65915703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.760000	0.85248	2.465000	0.83290	0.460000	0.39030	GAA		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
SULT1B1	27284	broad.mit.edu	37	4	70596362	70596362	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596362A>G	ENST00000310613.3	-	7	932	c.635T>C	c.(634-636)cTa>cCa	p.L212P		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTCTCTAGAAATCTAAT	0.338																																						uc003hen.2																			0					0						c.(634-636)CTA>CCA		sulfotransferase family, cytosolic, 1B, member							132.0	123.0	126.0					4																	70596362		2202	4300	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596362A>G	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.635T>C	4.37:g.70596362A>G	ENSP00000308770:p.Leu212Pro						p.L212P	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	933	-			212			PAPS (By similarity).		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.635T>C	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820884	0.50633	.	.	ENSG00000173597	ENST00000310613	T	0.04603	3.59	4.09	2.86	0.33363	Sulfotransferase domain (1);	0.200798	0.24470	N	0.038248	T	0.31670	0.0804	H	0.98238	4.18	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.27020	-1.0086	10	0.87932	D	0	.	8.9686	0.35892	0.8119:0.1881:0.0:0.0	.	212	O43704	ST1B1_HUMAN	P	212	ENSP00000308770:L212P	ENSP00000308770:L212P	L	-	2	0	SULT1B1	70630951	1.000000	0.71417	0.575000	0.28536	0.955000	0.61496	3.447000	0.52936	0.539000	0.28788	0.383000	0.25322	CTA		0.338	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
SULT1B1	27284	broad.mit.edu	37	4	70596383	70596383	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596383A>C	ENST00000310613.3	-	7	911	c.614T>G	c.(613-615)aTc>aGc	p.I205S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	205					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATCTTCTTGATTTCCTCCTT	0.328																																						uc003hen.2																			0					0						c.(613-615)ATC>AGC		sulfotransferase family, cytosolic, 1B, member							103.0	98.0	99.0					4																	70596383		2202	4300	6502	SO:0001583	missense	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596383A>C	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.614T>G	4.37:g.70596383A>C	ENSP00000308770:p.Ile205Ser						p.I205S	NM_014465	NP_055280	O43704	ST1B1_HUMAN			7	912	-			205			PAPS (By similarity).		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	c.614T>G	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480560	0.44044	.	.	ENSG00000173597	ENST00000310613	D	0.85629	-2.01	4.09	4.09	0.47781	Sulfotransferase domain (1);	0.128764	0.34802	N	0.003667	D	0.91945	0.7449	H	0.95437	3.67	0.34061	D	0.657258	P	0.48407	0.91	P	0.52309	0.695	D	0.95978	0.8975	10	0.87932	D	0	.	11.3366	0.49507	1.0:0.0:0.0:0.0	.	205	O43704	ST1B1_HUMAN	S	205	ENSP00000308770:I205S	ENSP00000308770:I205S	I	-	2	0	SULT1B1	70630972	0.999000	0.42202	0.929000	0.37066	0.628000	0.37860	4.161000	0.58170	1.633000	0.50488	0.383000	0.25322	ATC		0.328	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
CABS1	85438	broad.mit.edu	37	4	71201006	71201006	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:71201006G>A	ENST00000273936.5	+	1	324	c.250G>A	c.(250-252)Gac>Aac	p.D84N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	84					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.D84N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TATGGGGACCGACTTTATTAA	0.363																																						uc003hff.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(250-252)GAC>AAC		testis development protein NYD-SP26							61.0	62.0	62.0					4																	71201006		2203	4298	6501	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201006G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.250G>A	4.37:g.71201006G>A	ENSP00000273936:p.Asp84Asn						p.D84N	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	336	+		all_hematologic(202;0.196)	84					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.250G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.973843	0.00452	.	.	ENSG00000145309	ENST00000273936	T	0.23754	1.89	4.67	-1.53	0.08611	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34030	-0.9845	9	0.05351	T	0.99	-38.0083	0.1972	0.00141	0.2978:0.2743:0.1513:0.2766	.	84	Q96KC9	CABS1_HUMAN	N	84	ENSP00000273936:D84N	ENSP00000273936:D84N	D	+	1	0	CABS1	71235595	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.507000	0.06352	-0.224000	0.09928	-0.270000	0.10280	GAC		0.363	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
TACR3	6870	broad.mit.edu	37	4	104510963	104510963	+	Missense_Mutation	SNP	C	C	T	rs202051644		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:104510963C>T	ENST00000304883.2	-	5	1414	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	425					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCTTTTCTTCCGACTGGACCT	0.502																																						uc003hxe.1																			0				ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(1273-1275)CGG>CAG		tachykinin receptor 3		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	238.0	222.0	227.0		1274	2.9	0.3	4		227	1,8599	2.2+/-6.3	0,1,4299	no	missense	TACR3	NM_001059.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	425/466	104510963	2,13004	2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510963C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1274G>A	4.37:g.104510963C>T	ENSP00000303325:p.Arg425Gln						p.R425Q	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1417	-		Hepatocellular(203;0.217)	425			Cytoplasmic (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1274G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975263	0.18736	2.27E-4	1.16E-4	ENSG00000169836	ENST00000304883	T	0.64260	-0.09	5.54	2.92	0.33932	.	0.369357	0.23626	N	0.046191	T	0.53769	0.1817	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41016	-0.9532	10	0.13853	T	0.58	.	8.7063	0.34356	0.0:0.6316:0.0:0.3684	.	425	P29371	NK3R_HUMAN	Q	425	ENSP00000303325:R425Q	ENSP00000303325:R425Q	R	-	2	0	TACR3	104730412	0.001000	0.12720	0.303000	0.25071	0.363000	0.29612	0.291000	0.18994	0.315000	0.23110	-0.216000	0.12614	CGG		0.502	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
NDST3	9348	broad.mit.edu	37	4	119064755	119064755	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:119064755C>T	ENST00000296499.5	+	6	1858	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	NDST3_ENST00000433996.2_Silent_p.F404F	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	485	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACACCATTTTCTACAAAGAAT	0.383																																						uc003ibx.2																			0				large_intestine(1)	1						c.(1453-1455)TTC>TTT		N-deacetylase/N-sulfotransferase (heparan							60.0	60.0	60.0					4																	119064755		2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119064755C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1455C>T	4.37:g.119064755C>T						NDST3_uc011cgf.1_Silent_p.F404F	p.F485F	NM_004784	NP_004775	O95803	NDST3_HUMAN			6	1858	+			485			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1455C>T	CCDS3708.1																																																																																				0.383	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
DNAH5	1767	broad.mit.edu	37	5	13841162	13841162	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:13841162T>A	ENST00000265104.4	-	34	5666	c.5562A>T	c.(5560-5562)aaA>aaT	p.K1854N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1854	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCATGATTTTTTTATCAA	0.398									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5560-5562)AAA>AAT		dynein, axonemal, heavy chain 5							140.0	137.0	138.0					5																	13841162		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841162T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5562A>T	5.37:g.13841162T>A	ENSP00000265104:p.Lys1854Asn						p.K1854N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			34	5604	-	Lung NSC(4;0.00476)		1854			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5562A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133439	0.37630	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.77	3.38	0.38709	.	0.107792	0.64402	D	0.000008	T	0.20088	0.0483	L	0.45228	1.405	0.45930	D	0.998765	B	0.16802	0.019	B	0.18561	0.022	T	0.04781	-1.0927	10	0.30078	T	0.28	.	8.4327	0.32769	0.0:0.2944:0.0:0.7056	.	1854	Q8TE73	DYH5_HUMAN	N	1854	ENSP00000265104:K1854N	ENSP00000265104:K1854N	K	-	3	2	DNAH5	13894162	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.309000	0.33539	0.456000	0.26937	-0.256000	0.11100	AAA		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MCCC2	64087	broad.mit.edu	37	5	70945048	70945048	+	Silent	SNP	C	C	T	rs548725229		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:70945048C>T	ENST00000340941.6	+	14	1470	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MCCC2_ENST00000323375.8_Silent_p.A409A	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	447	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCTATGGAGCCGGAAACTATG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17324	0.001		0.0	False		,,,				2504	0.0					uc003kbs.3																			0				ovary(1)	1						c.(1339-1341)GCC>GCT		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						85.0	83.0	83.0					5																	70945048		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70945048C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1341C>T	5.37:g.70945048C>T						MCCC2_uc003kbt.3_RNA	p.A447A	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	14	1479	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	447			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.1341C>T	CCDS34184.1																																																																																				0.463	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4		
SLC22A5	6584	broad.mit.edu	37	5	131729366	131729366	+	Splice_Site	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:131729366A>G	ENST00000245407.3	+	9	1671		c.e9-1		SLC22A5_ENST00000435065.2_Splice_Site|SLC22A5_ENST00000479605.1_Splice_Site	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5						carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCTTTGCCATAGGTGCCTACG	0.562																																						uc003kww.3																			0					0						c.e9-2		solute carrier family 22 member 5	L-Carnitine(DB00583)						186.0	179.0	182.0					5																	131729366		2203	4300	6503	SO:0001630	splice_region_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131729366A>G	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1451-1A>G	5.37:g.131729366A>G						SLC22A5_uc003kwx.3_Splice_Site_p.G508_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	p.G484_splice	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1715	+		all_cancers(142;0.0751)|Breast(839;0.198)						A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Splice_Site	SNP	ENST00000245407.3	37	c.1451_splice	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.136209	0.56936	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6084	0.76692	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC22A5	131757265	1.000000	0.71417	0.934000	0.37439	0.501000	0.33797	8.785000	0.91822	2.326000	0.78906	0.533000	0.62120	.		0.562	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060	Intron
MAT2B	27430	broad.mit.edu	37	5	162945327	162945327	+	Silent	SNP	T	T	G	rs199689662		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:162945327T>G	ENST00000321757.6	+	7	1102	c.963T>G	c.(961-963)ccT>ccG	p.P321P	MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000280969.5_Silent_p.P310P|MAT2B_ENST00000521838.2_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	321					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	CACTTTGGCCTTTCCTCATTG	0.388																																						uc003lzk.2																			0				upper_aerodigestive_tract(1)	1						c.(961-963)CCT>CCG		methionine adenosyltransferase II, beta isoform	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						115.0	107.0	110.0					5																	162945327		2203	4300	6503	SO:0001819	synonymous_variant	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162945327T>G	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.963T>G	5.37:g.162945327T>G						MAT2B_uc003lzj.2_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.P61P	p.P321P	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	7	1071	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	321					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Silent	SNP	ENST00000321757.6	37	c.963T>G	CCDS4365.1																																																																																				0.388	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283	
PKHD1	5314	broad.mit.edu	37	6	51941121	51941121	+	Missense_Mutation	SNP	G	G	A	rs374645464		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:51941121G>A	ENST00000371117.3	-	6	676	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A134V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	134					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A134V(1)		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)					GGGTGTCTGCGCCTTGGAAAA	0.393																																						uc003pah.1																			1	Substitution - Missense(1)		ovary(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(400-402)GCG>GTG		fibrocystin isoform 1		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	95.0	98.0	97.0		401,401	0.7	0.9	6		97	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PKHD1	NM_170724.2,NM_138694.3	64,64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	134/3397,134/4075	51941121	2,13004	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.chr6:51941121G>A	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.401C>T	6.37:g.51941121G>A	ENSP00000360158:p.Ala134Val					PKHD1_uc003pai.2_Missense_Mutation_p.A134V	p.A134V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			6	677	-	Lung NSC(77;0.0605)		134			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.401C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011727	0.19277	0.0	2.33E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.03;-2.23	5.74	0.699	0.18093	.	0.596054	0.16585	N	0.208034	T	0.59636	0.2208	L	0.34521	1.04	0.18873	N	0.999988	B;B	0.23650	0.055;0.089	B;B	0.15870	0.014;0.006	T	0.50056	-0.8872	10	0.23302	T	0.38	.	7.6693	0.28449	0.1295:0.0:0.3003:0.5702	.	134;134	P08F94-2;P08F94	.;PKHD1_HUMAN	V	134	ENSP00000360158:A134V;ENSP00000341097:A134V	ENSP00000341097:A134V	A	-	2	0	PKHD1	52049080	0.006000	0.16342	0.885000	0.34714	0.616000	0.37450	0.023000	0.13533	-0.088000	0.12506	-0.822000	0.03109	GCG		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
IBTK	25998	broad.mit.edu	37	6	82924066	82924066	+	Silent	SNP	A	A	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:82924066A>C	ENST00000306270.7	-	12	2631	c.2082T>G	c.(2080-2082)gtT>gtG	p.V694V	IBTK_ENST00000510291.1_Silent_p.V694V|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	694					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCCTCTCACTAACTGTTTGAG	0.338																																						uc003pjl.1																			0				ovary(2)|central_nervous_system(2)	4						c.(2080-2082)GTT>GTG		inhibitor of Bruton's tyrosine kinase							118.0	124.0	122.0					6																	82924066		2203	4300	6503	SO:0001819	synonymous_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82924066A>C	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2082T>G	6.37:g.82924066A>C						IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	p.V694V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	12	2609	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	694					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	c.2082T>G	CCDS34490.1																																																																																				0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
SESN1	27244	broad.mit.edu	37	6	109319765	109319765	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:109319765C>T	ENST00000356644.7	-	5	840	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Missense_Mutation_p.G308D|SESN1_ENST00000302071.2_Missense_Mutation_p.G183D	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	249					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACTGTGATTGCCATTTGTAAT	0.398																																						uc003pst.3																			0				ovary(1)	1						c.(745-747)GGC>GAC		sestrin 1							132.0	116.0	122.0					6																	109319765		2203	4299	6502	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109319765C>T	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.746G>A	6.37:g.109319765C>T	ENSP00000349061:p.Gly249Asp					SESN1_uc003psu.2_Missense_Mutation_p.G308D	p.G249D	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	5	838	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	249					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.746G>A	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173450	0.78452	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.22336	1.96;1.96;1.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	N	0.25201	0.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01149	-1.1436	10	0.06757	T	0.87	-33.1161	20.5407	0.99260	0.0:1.0:0.0:0.0	.	308;249	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	D	308;183;249	ENSP00000393762:G308D;ENSP00000306734:G183D;ENSP00000349061:G249D	ENSP00000306734:G183D	G	-	2	0	SESN1	109426458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	2.865000	0.98341	0.655000	0.94253	GGC		0.398	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454	
ZNF804B	219578	broad.mit.edu	37	7	88966247	88966247	+	Silent	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:88966247A>G	ENST00000333190.4	+	4	4560	c.3951A>G	c.(3949-3951)gtA>gtG	p.V1317V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1317							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAACCAGTATTCCAAGGTC	0.413										HNSCC(36;0.09)																												uc011khi.1																			0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3949-3951)GTA>GTG		zinc finger protein 804B							133.0	135.0	134.0					7																	88966247		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88966247A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3951A>G	7.37:g.88966247A>G		HNSCC(36;0.09)					p.V1317V	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4489	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1317					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.3951A>G	CCDS5613.1																																																																																				0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
PPP1R3A	5506	broad.mit.edu	37	7	113518248	113518248	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:113518248G>T	ENST00000284601.3	-	4	2967	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	967					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGGATAAGGGTGCTTCTCA	0.383																																						uc010ljy.1																			0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2899-2901)CCT>ACT		protein phosphatase 1, regulatory (inhibitor)							91.0	90.0	91.0					7																	113518248		2202	4298	6500	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518248G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2899C>A	7.37:g.113518248G>T	ENSP00000284601:p.Pro967Thr						p.P967T	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2930	-			967					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2899C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	0.100	-1.154220	0.01700	.	.	ENSG00000154415	ENST00000284601	T	0.15256	2.44	4.61	-4.98	0.03019	.	1.635940	0.03337	N	0.194306	T	0.13756	0.0333	L	0.51422	1.61	0.09310	N	1	B	0.30763	0.294	B	0.22152	0.038	T	0.18398	-1.0338	10	0.35671	T	0.21	.	6.4737	0.22024	0.4312:0.3388:0.23:0.0	.	967	Q16821	PPR3A_HUMAN	T	967	ENSP00000284601:P967T	ENSP00000284601:P967T	P	-	1	0	PPP1R3A	113305484	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.166000	0.03129	-1.164000	0.02790	0.650000	0.86243	CCT		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
PLXNA4	91584	broad.mit.edu	37	7	131866156	131866156	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:131866156G>A	ENST00000359827.3	-	18	4438	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T1159M			Q9HCM2	PLXA4_HUMAN	plexin A4	1159	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T1159M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGATGGGCGTGCCAGGCTT	0.582																																						uc003vra.3																			2	Substitution - Missense(2)		kidney(2)	ovary(1)	1						c.(3475-3477)ACG>ATG		plexin A4 isoform 1							158.0	165.0	162.0					7																	131866156		1952	4140	6092	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866156G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3476C>T	7.37:g.131866156G>A	ENSP00000352882:p.Thr1159Met						p.T1159M	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			18	3705	-			1159			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3476C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053605	0.75960	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.65732	-0.17;-0.17	5.1	5.1	0.69264	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	2.295700	0.01679	N	0.026049	T	0.70413	0.3221	L	0.36672	1.1	0.47994	D	0.999563	D	0.56521	0.976	P	0.52793	0.709	T	0.56950	-0.7894	10	0.62326	D	0.03	.	15.1678	0.72842	0.0:0.1515:0.8485:0.0	.	1159	Q9HCM2	PLXA4_HUMAN	M	1159	ENSP00000323194:T1159M;ENSP00000352882:T1159M	ENSP00000323194:T1159M	T	-	2	0	PLXNA4	131516696	1.000000	0.71417	0.938000	0.37757	0.978000	0.69477	6.290000	0.72712	2.381000	0.81170	0.561000	0.74099	ACG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
TRBV2	28620	broad.mit.edu	37	7	142000857	142000857	+	RNA	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:142000857C>A	ENST00000455382.2	+	0	111									T cell receptor beta variable 2																		AATTTTTAGTCTCTTGAAAGC	0.443																																						uc011kro.1																			0											c.(37-39)CTC>ATC		SubName: Full=V_segment translation product; Flags: Fragment;							141.0	131.0	134.0					7																	142000857		1932	4148	6080			0							g.chr7:142000857C>A	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142000857C>A							p.L13I							1	82	+									Missense_Mutation	SNP	ENST00000455382.2	37	c.37C>A																																																																																					0.443	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333	
GIMAP8	155038	broad.mit.edu	37	7	150171329	150171329	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:150171329G>A	ENST00000307271.3	+	4	1486	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	304	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGATGCTCCGGACATCTCAT	0.458																																						uc003whj.2																			0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(910-912)CCG>CCA		GTPase, IMAP family member 8							78.0	85.0	83.0					7																	150171329		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171329G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.912G>A	7.37:g.150171329G>A							p.P304P	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1242	+			304						Silent	SNP	ENST00000307271.3	37	c.912G>A	CCDS34777.1																																																																																				0.458	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
TEX15	56154	broad.mit.edu	37	8	30702861	30702861	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:30702861C>T	ENST00000256246.2	-	1	3747	c.3673G>A	c.(3673-3675)Gct>Act	p.A1225T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1225					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTTCATTAGCGTCACAACTG	0.299																																						uc003xil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(3673-3675)GCT>ACT		testis expressed 15							40.0	39.0	39.0					8																	30702861		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30702861C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3673G>A	8.37:g.30702861C>T	ENSP00000256246:p.Ala1225Thr						p.A1225T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3673	-			1225						Missense_Mutation	SNP	ENST00000256246.2	37	c.3673G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	2.367	-0.345220	0.05208	.	.	ENSG00000133863	ENST00000256246	T	0.22945	1.93	5.66	-5.11	0.02901	.	1.038280	0.07561	N	0.917006	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.12837	0.008	T	0.29882	-0.9997	10	0.87932	D	0	.	1.6938	0.02857	0.2256:0.1985:0.1111:0.4648	.	1225	Q9BXT5	TEX15_HUMAN	T	1225	ENSP00000256246:A1225T	ENSP00000256246:A1225T	A	-	1	0	TEX15	30822403	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.954000	0.03873	-0.631000	0.05560	-1.827000	0.00596	GCT		0.299	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
FAM135B	51059	broad.mit.edu	37	8	139209806	139209806	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:139209806A>G	ENST00000395297.1	-	8	946	c.776T>C	c.(775-777)tTc>tCc	p.F259S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCACCAGGAAGTGGAGACG	0.612										HNSCC(54;0.14)																												uc003yuy.2																			0				ovary(7)|skin(2)	9						c.(775-777)TTC>TCC		hypothetical protein LOC51059							65.0	75.0	72.0					8																	139209806		2143	4267	6410	SO:0001583	missense	51059							g.chr8:139209806A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.776T>C	8.37:g.139209806A>G	ENSP00000378710:p.Phe259Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.F160S|FAM135B_uc003yuz.2_RNA	p.F259S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		8	947	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		259					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.776T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595922	0.66332	.	.	ENSG00000147724	ENST00000395297	D	0.81579	-1.51	4.74	4.74	0.60224	.	0.273578	0.37219	N	0.002198	T	0.81777	0.4894	M	0.64404	1.975	0.30930	N	0.726992	D	0.54964	0.969	P	0.50352	0.638	T	0.83320	-0.0018	10	0.66056	D	0.02	-22.7841	10.5619	0.45150	1.0:0.0:0.0:0.0	.	259	Q49AJ0	F135B_HUMAN	S	259	ENSP00000378710:F259S	ENSP00000276737:F259S	F	-	2	0	FAM135B	139278988	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.207000	0.42788	2.001000	0.58596	0.460000	0.39030	TTC		0.612	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
ZNF79	7633	broad.mit.edu	37	9	130206381	130206381	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr9:130206381G>C	ENST00000342483.5	+	5	808	c.402G>C	c.(400-402)gaG>gaC	p.E134D	ZNF79_ENST00000543471.1_Missense_Mutation_p.E110D	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CATGTGTAGAGATGCCCCCTG	0.502																																						uc004bqw.3																			0				central_nervous_system(1)	1						c.(400-402)GAG>GAC		zinc finger protein 79							96.0	92.0	94.0					9																	130206381		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206381G>C	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.402G>C	9.37:g.130206381G>C	ENSP00000362446:p.Glu134Asp					ZNF79_uc011maf.1_Missense_Mutation_p.E110D|ZNF79_uc011mag.1_Missense_Mutation_p.E110D	p.E134D	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	816	+			134					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.402G>C	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	9.136	1.012720	0.19277	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.07114	3.22;3.22	2.92	0.805	0.18703	.	.	.	.	.	T	0.09555	0.0235	L	0.29908	0.895	0.18873	N	0.999986	D	0.55172	0.97	P	0.51833	0.681	T	0.28299	-1.0048	9	0.45353	T	0.12	.	6.3116	0.21169	0.327:0.0:0.673:0.0	.	134	Q15937	ZNF79_HUMAN	D	134;110	ENSP00000362446:E134D;ENSP00000438418:E110D	ENSP00000362446:E134D	E	+	3	2	ZNF79	129246202	0.006000	0.16342	0.004000	0.12327	0.010000	0.07245	0.408000	0.21065	0.198000	0.20407	-0.136000	0.14681	GAG		0.502	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135	
ZCCHC5	203430	broad.mit.edu	37	X	77913028	77913028	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chrX:77913028A>G	ENST00000321110.1	-	2	1185	c.890T>C	c.(889-891)aTc>aCc	p.I297T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	297							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTTTGGATATCCAGTAA	0.483																																						uc004edc.1																			0				ovary(1)	1						c.(889-891)ATC>ACC		zinc finger, CCHC domain containing 5							40.0	37.0	38.0					X																	77913028		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913028A>G	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.890T>C	X.37:g.77913028A>G	ENSP00000316794:p.Ile297Thr						p.I297T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1186	-			297					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.890T>C	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	A	0.087	-1.172934	0.01646	.	.	ENSG00000179300	ENST00000321110	T	0.16324	2.35	3.25	0.758	0.18432	.	0.638665	0.12587	U	0.455864	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B	0.25235	0.121	B	0.16722	0.016	T	0.39440	-0.9614	10	0.14252	T	0.57	.	2.9762	0.05939	0.5787:0.2703:0.151:0.0	.	297	Q8N8U3	ZCHC5_HUMAN	T	297	ENSP00000316794:I297T	ENSP00000316794:I297T	I	-	2	0	ZCCHC5	77799684	0.438000	0.25602	0.045000	0.18777	0.800000	0.45204	0.044000	0.13992	0.047000	0.15862	0.412000	0.27726	ATC		0.483	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
