#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
ACAP3	116983	broad.mit.edu	37	1	1229200	1229201	+	Splice_Site	DEL	CA	CA	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:1229200_1229201delCA	ENST00000354700.5	-	23	2563		c.e23+1		ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Splice_Site	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGCCGCGCTCACAGTGTCACG	0.752																																						uc001aeb.2																			0					0						c.e23+1		ArfGAP with coiled-coil, ankyrin repeat and PH																																				SO:0001630	splice_region_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1229200_1229201delCA	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2360+1TG>-	1.37:g.1229202_1229203delCA						ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	p.L787_splice	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			23	2434	-								B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Splice_Site	DEL	ENST00000354700.5	37	c.2360_splice	CCDS19.2																																																																																				0.752	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	Intron
TMCO4	255104	broad.mit.edu	37	1	20027271	20027271	+	Missense_Mutation	SNP	C	C	T	rs201810750	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:20027271C>T	ENST00000294543.6	-	14	1613	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	TMCO4_ENST00000375122.2_Missense_Mutation_p.G418S|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.G458S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	458						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGCAGTAGCCGTTGATGATC	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		20088	0.002		0.0	False		,,,				2504	0.0					uc001bcn.2																			0					0						c.(1372-1374)GGC>AGC		transmembrane and coiled-coil domains 4							143.0	126.0	132.0					1																	20027271		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20027271C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1372G>A	1.37:g.20027271C>T	ENSP00000294543:p.Gly458Ser					TMCO4_uc001bcm.2_Missense_Mutation_p.G289S|TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	p.G458S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	14	1614	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	458					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1372G>A	CCDS198.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	32	5.150385	0.94645	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.50813	0.73;0.73;0.73	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.89534	3.04	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.99;0.992	T	0.74150	-0.3758	10	0.31617	T	0.26	-10.7127	17.4392	0.87561	0.0:1.0:0.0:0.0	.	42;458;418	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	S	458;458;418	ENSP00000294543:G458S;ENSP00000364269:G458S;ENSP00000364264:G418S	ENSP00000294543:G458S	G	-	1	0	TMCO4	19899858	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	5.915000	0.69973	2.806000	0.96561	0.655000	0.94253	GGC		0.567	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719	
HOOK1	51361	broad.mit.edu	37	1	60299185	60299185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:60299185G>A	ENST00000371208.3	+	5	639	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.A86T	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	128	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTAGGTTGTGCGATCAACTG	0.373																																						uc009wad.2																			0				ovary(1)|breast(1)	2						c.(382-384)GCG>ACG		hook homolog 1							97.0	100.0	99.0					1																	60299185		2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60299185G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.382G>A	1.37:g.60299185G>A	ENSP00000360252:p.Ala128Thr					HOOK1_uc001czo.2_Missense_Mutation_p.A128T|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.A86T	p.A128T	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			6	484	+	all_cancers(7;0.000129)		128			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.382G>A	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339273	0.95783	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	T;T;T	0.35048	1.33;1.33;1.33	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73500	-0.3963	10	0.66056	D	0.02	.	19.6951	0.96022	0.0:0.0:1.0:0.0	.	128	Q9UJC3	HOOK1_HUMAN	T	128;128;86	ENSP00000398860:A128T;ENSP00000360252:A128T;ENSP00000378928:A86T	ENSP00000360252:A128T	A	+	1	0	HOOK1	60071773	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	8.197000	0.89727	2.728000	0.93425	0.585000	0.79938	GCG		0.373	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
RBMXL1	494115	broad.mit.edu	37	1	89448530	89448530	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:89448530T>A	ENST00000321792.5	-	2	1407	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y327F|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	327	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GCTGCTTGAGTAACTGTCTCG	0.517																																						uc009wcx.2																			0					0						c.(979-981)TAC>TTC		RNA binding motif protein, X-linked-like 1							189.0	188.0	188.0					1																	89448530		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448530T>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.980A>T	1.37:g.89448530T>A	ENSP00000318415:p.Tyr327Phe					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.Y327F	p.Y327F	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1696	-			327			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.980A>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416942	0.42918	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.79554	-1.28;-1.28	1.89	1.89	0.25635	.	0.213795	0.41396	D	0.000888	T	0.62720	0.2451	M	0.71581	2.175	0.26735	N	0.970519	P	0.49783	0.928	B	0.39465	0.3	T	0.59289	-0.7482	10	0.87932	D	0	-0.5885	7.4238	0.27088	0.0:0.0:0.0:1.0	.	327	Q96E39	RBMXL_HUMAN	F	327	ENSP00000318415:Y327F;ENSP00000446099:Y327F	ENSP00000318415:Y327F	Y	-	2	0	RBMXL1	89221118	1.000000	0.71417	0.982000	0.44146	0.817000	0.46193	3.526000	0.53509	0.874000	0.35823	0.254000	0.18369	TAC		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
SPTA1	6708	broad.mit.edu	37	1	158622276	158622276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:158622276delT	ENST00000368147.4	-	23	3536	c.3356delA	c.(3355-3357)aagfs	p.K1119fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1119					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3355-3357)AAGfs		spectrin, alpha, erythrocytic 1							146.0	135.0	139.0					1																	158622276		1877	4116	5993	SO:0001589	frameshift_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158622276delT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3356delA	1.37:g.158622276delT	ENSP00000357129:p.Lys1119fs						p.K1119fs	NM_003126	NP_003117	P02549	SPTA1_HUMAN			23	3555	-	all_hematologic(112;0.0378)		1119			Spectrin 11.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	ENST00000368147.4	37	c.3356delA	CCDS41423.1																																																																																				0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
DDR2	4921	broad.mit.edu	37	1	162749912	162749912	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:162749912C>T	ENST00000367922.3	+	19	2882	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.P815L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	815	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P815L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ACTTACCTCCCTCAACCAGCC	0.438																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			1	Substitution - Missense(1)	p.P815L(1)	central_nervous_system(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(2443-2445)CCT>CTT		discoidin domain receptor family, member 2							191.0	188.0	189.0					1																	162749912		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749912C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2444C>T	1.37:g.162749912C>T	ENSP00000356899:p.Pro815Leu					DDR2_uc001gcg.2_Missense_Mutation_p.P815L|uc001gch.1_5'Flank	p.P815L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2909	+	all_hematologic(112;0.115)		815			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2444C>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675411	0.47781	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83075	-1.68;-1.68	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	M	0.64404	1.975	0.41446	D	0.987956	B	0.18013	0.025	B	0.18263	0.021	T	0.70066	-0.4974	9	0.22706	T	0.39	.	18.0398	0.89315	0.0:1.0:0.0:0.0	.	815	Q16832	DDR2_HUMAN	L	815	ENSP00000356899:P815L;ENSP00000356898:P815L	ENSP00000356898:P815L	P	+	2	0	DDR2	161016536	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	5.571000	0.67404	2.602000	0.87976	0.557000	0.71058	CCT		0.438	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
SMG7	9887	broad.mit.edu	37	1	183511445	183511445	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:183511445C>T	ENST00000347615.2	+	14	1769	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SMG7_ENST00000515829.2_Silent_p.N550N|SMG7_ENST00000507469.1_Silent_p.N550N|SMG7_ENST00000456731.2_Silent_p.N508N|SMG7_ENST00000367537.3_Silent_p.N579N|SMG7_ENST00000508461.1_Silent_p.N508N	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	550					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAAGAAAACATTAAGACAC	0.428																																						uc001gqg.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1648-1650)AAC>AAT		SMG-7 homolog isoform 1							127.0	125.0	126.0					1																	183511445		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183511445C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1650C>T	1.37:g.183511445C>T						SMG7_uc010pob.1_Silent_p.N579N|SMG7_uc001gqf.2_Silent_p.N550N|SMG7_uc001gqh.2_Silent_p.N550N|SMG7_uc001gqi.2_Silent_p.N508N|SMG7_uc010poc.1_Silent_p.N508N	p.N550N	NM_173156	NP_775179	Q92540	SMG7_HUMAN			14	1772	+			550					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.1650C>T	CCDS1355.1																																																																																				0.428	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
HMCN1	83872	broad.mit.edu	37	1	185972975	185972975	+	Splice_Site	SNP	A	A	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:185972975A>T	ENST00000271588.4	+	29	4703	c.4474A>T	c.(4474-4476)Aag>Tag	p.K1492*	HMCN1_ENST00000367492.2_Splice_Site_p.K1492*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1492	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGATGGCAAGTGAGTATC	0.388																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(4474-4476)AAG>TAG		hemicentin 1 precursor							109.0	85.0	93.0					1																	185972975		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185972975A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4475+1A>T	1.37:g.185972975A>T							p.K1492*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			29	4703	+			1492			Ig-like C2-type 12.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.4474A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	47	13.249572	0.99730	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.86	5.86	0.93980	.	0.090806	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8249	0.70104	1.0:0.0:0.0:0.0	.	.	.	.	X	1492	.	ENSP00000271588:K1492X	K	+	1	0	HMCN1	184239598	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.419000	0.73345	2.244000	0.73946	0.528000	0.53228	AAG		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Nonsense_Mutation
USH2A	7399	broad.mit.edu	37	1	216373084	216373084	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:216373084C>T	ENST00000307340.3	-	17	4082	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	USH2A_ENST00000366943.2_Silent_p.L1232L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Silent_p.L1232L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1232	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTAATGGGCAAGCTGTGTA	0.483										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3694-3696)TTG>TTA		usherin isoform B							91.0	88.0	89.0					1																	216373084		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373084C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3696G>A	1.37:g.216373084C>T		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.L1232L	p.L1232L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	4083	-			1232			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.3696G>A	CCDS31025.1																																																																																				0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ZP4	57829	broad.mit.edu	37	1	238053434	238053434	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:238053434C>G	ENST00000366570.4	-	2	376	c.218G>C	c.(217-219)tGt>tCt	p.C73S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	73					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCAGGTGCCACAGTCGGAGTC	0.562																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			0				ovary(2)|skin(1)	3						c.(217-219)TGT>TCT		zona pellucida glycoprotein 4 preproprotein							97.0	86.0	90.0					1																	238053434		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053434C>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.218G>C	1.37:g.238053434C>G	ENSP00000355529:p.Cys73Ser					LOC100130331_uc010pyc.1_Intron	p.C73S	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	218	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	73			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.218G>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553506	0.45487	.	.	ENSG00000116996	ENST00000366570	D	0.83591	-1.74	5.07	4.15	0.48705	.	0.152154	0.44688	D	0.000426	D	0.88808	0.6537	M	0.84846	2.72	0.30787	N	0.74139	D	0.69078	0.997	P	0.59761	0.863	D	0.86758	0.1965	10	0.44086	T	0.13	-16.6865	9.0579	0.36416	0.0:0.8987:0.0:0.1013	.	73	Q12836	ZP4_HUMAN	S	73	ENSP00000355529:C73S	ENSP00000355529:C73S	C	-	2	0	ZP4	236120057	1.000000	0.71417	0.423000	0.26634	0.317000	0.28152	2.888000	0.48594	1.126000	0.42016	0.655000	0.94253	TGT		0.562	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
OR2W5	441932	broad.mit.edu	37	1	247654759	247654759	+	RNA	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:247654759C>T	ENST00000522351.1	+	0	390							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T110T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGCTCCACCGAGTGCGTCC	0.607																																						uc001icz.1																			1	Substitution - coding silent(1)	p.T110T(1)	ovary(1)	ovary(1)|breast(1)|skin(1)	3						c.(328-330)ACC>ACT		olfactory receptor, family 2, subfamily W,							97.0	93.0	94.0					1																	247654759		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654759C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654759C>T							p.T110T	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	330	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	110			Helical; Name=3; (Potential).		B9EH85	Silent	SNP	ENST00000522351.1	37	c.330C>T																																																																																					0.607	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
MUC5B	727897	broad.mit.edu	37	11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T	rs369158178		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:1267649C>T	ENST00000529681.1	+	31	9597	c.9539C>T	c.(9538-9540)aCg>aTg	p.T3180M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3183M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3180	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGATCCACGGCCACCGCC	0.687													c|||	1	0.000199681	0.0	0.0	5008	,	,		16818	0.0		0.001	False		,,,				2504	0.0					uc009ycr.1																			0					0						c.(11287-11289)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							72.0	95.0	87.0					11																	1267649		2099	4193	6292	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267649C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9539C>T	11.37:g.1267649C>T	ENSP00000436812:p.Thr3180Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T3183M	p.T3763M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11414	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3180	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11288C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	0.848	-0.739697	0.03088	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.20332	2.08;2.26	1.81	-3.63	0.04529	.	.	.	.	.	T	0.19127	0.0459	L	0.55990	1.75	0.09310	N	1	D;D	0.67145	0.987;0.996	P;P	0.48030	0.467;0.564	T	0.09314	-1.0680	9	0.87932	D	0	.	0.575	0.00702	0.2558:0.3132:0.2203:0.2106	.	3763;3183	A7Y9J9;E9PBJ0	.;.	M	3180;3183;3152;3140;68	ENSP00000436812:T3180M;ENSP00000415793:T3183M	ENSP00000343037:T3152M	T	+	2	0	MUC5B	1224225	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.544000	0.06077	-3.223000	0.00211	0.121000	0.15741	ACG		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
LRRC55	219527	broad.mit.edu	37	11	56949722	56949722	+	Missense_Mutation	SNP	C	C	T	rs575568934		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:56949722C>T	ENST00000497933.1	+	1	502	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	89					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCCACAACCGCATCACAGC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19259	0.0		0.0	False		,,,				2504	0.0					uc001njl.1																			0					0						c.(355-357)CGC>TGC		leucine rich repeat containing 55							63.0	64.0	63.0					11																	56949722		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949722C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.355C>T	11.37:g.56949722C>T	ENSP00000419542:p.Arg119Cys						p.R119C	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	502	+			89			LRR 1.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.355C>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752365	0.69533	.	.	ENSG00000183908	ENST00000497933	T	0.45668	0.89	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000010	T	0.58921	0.2156	M	0.61703	1.905	0.52501	D	0.999959	D	0.63046	0.992	D	0.63192	0.912	T	0.59947	-0.7358	10	0.66056	D	0.02	.	13.7615	0.62968	0.1538:0.8462:0.0:0.0	.	89	Q6ZSA7	LRC55_HUMAN	C	119	ENSP00000419542:R119C	ENSP00000419542:R119C	R	+	1	0	LRRC55	56706298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.515000	0.35845	2.735000	0.93741	0.655000	0.94253	CGC		0.597	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210	
AHNAK	79026	broad.mit.edu	37	11	62301253	62301253	+	Silent	SNP	C	C	T	rs141489091	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:62301253C>T	ENST00000378024.4	-	5	910	c.636G>A	c.(634-636)tcG>tcA	p.S212S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	212					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCTGCCCCCGAGCCCGAGG	0.562													C|||	6	0.00119808	0.0045	0.0	5008	,	,		16341	0.0		0.0	False		,,,				2504	0.0					uc001ntl.2																			0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(634-636)TCG>TCA		AHNAK nucleoprotein isoform 1		C	,	12,4392	19.1+/-41.9	0,12,2190	65.0	70.0	68.0		636,	-11.2	0.2	11	dbSNP_134	68	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,13,6488	TT,TC,CC		0.0116,0.2725,0.1	,	212/5891,	62301253	13,12989	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301253C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.636G>A	11.37:g.62301253C>T						AHNAK_uc001ntk.1_Intron	p.S212S	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	936	-		Melanoma(852;0.155)	212					A1A586	Silent	SNP	ENST00000378024.4	37	c.636G>A	CCDS31584.1																																																																																				0.562	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
SNX15	29907	broad.mit.edu	37	11	64800008	64800008	+	Missense_Mutation	SNP	C	C	T	rs142024969		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:64800008C>T	ENST00000377244.3	+	3	371	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SNX15_ENST00000352068.5_Missense_Mutation_p.R81W|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	81	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTTTCCCCCGGGCCCAGGT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17733	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3																			0				ovary(1)	1						c.(241-243)CGG>TGG		sorting nexin 15 isoform A							59.0	51.0	54.0					11																	64800008		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64800008C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.241C>T	11.37:g.64800008C>T	ENSP00000366452:p.Arg81Trp					SNX15_uc009ypy.2_Missense_Mutation_p.R81W|SNX15_uc001ocj.2_Missense_Mutation_p.R81W|SNX15_uc001ock.2_Missense_Mutation_p.R81W	p.R81W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			6	894	+			81			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.241C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500018	0.44455	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.95	3.0	0.34707	Phox homologous domain (5);	0.056358	0.64402	D	0.000001	T	0.53594	0.1806	M	0.75615	2.305	0.53688	D	0.999972	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.68765	0.96;0.793;0.96	T	0.56318	-0.7999	10	0.87932	D	0	-6.6401	7.8492	0.29444	0.1599:0.7533:0.0:0.0868	.	81;81;81	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	W	81;77;69;81	ENSP00000366452:R81W;ENSP00000437277:R77W;ENSP00000431690:R69W;ENSP00000316410:R81W	ENSP00000316410:R81W	R	+	1	2	SNX15	64556584	0.884000	0.30299	0.641000	0.29422	0.012000	0.07955	2.180000	0.42537	1.314000	0.45095	-0.136000	0.14681	CGG		0.627	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3		
HSPB2	3316	broad.mit.edu	37	11	111784541	111784541	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:111784541C>T	ENST00000304298.3	+	2	1059	c.471C>T	c.(469-471)gtC>gtT	p.V157V	HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000533971.1_5'Flank|HSPB2_ENST00000537382.1_Silent_p.V157V|CRYAB_ENST00000533475.1_5'UTR|CRYAB_ENST00000527950.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	157					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACACAGAGGTCAATGAGGTCT	0.592																																						uc001pmg.2																			0				ovary(2)|skin(1)	3						c.(469-471)GTC>GTT		heat shock 27kDa protein 2							54.0	51.0	52.0					11																	111784541		2201	4297	6498	SO:0001819	synonymous_variant	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784541C>T	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.471C>T	11.37:g.111784541C>T						CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	p.V157V	NM_001541	NP_001532	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	565	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	157					Q6I9U7	Silent	SNP	ENST00000304298.3	37	c.471C>T	CCDS8352.1																																																																																				0.592	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1		
PDZD3	79849	broad.mit.edu	37	11	119059718	119059718	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:119059718C>T	ENST00000531114.1	+	8	2039	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	PDZD3_ENST00000392817.2_Missense_Mutation_p.T497I|PDZD3_ENST00000355547.5_Missense_Mutation_p.T431I|PDZD3_ENST00000322712.4_Missense_Mutation_p.T417I|PDZD3_ENST00000525131.1_Missense_Mutation_p.T418I			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	497	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CACCAGGTGACTCCAGGAGGC	0.602																																						uc001pwb.2																			0				breast(1)	1						c.(1489-1491)ACT>ATT		RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;							58.0	63.0	61.0					11																	119059718		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059718C>T	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1490C>T	11.37:g.119059718C>T	ENSP00000431164:p.Thr497Ile					PDZD3_uc001pvy.2_Missense_Mutation_p.T417I|PDZD3_uc001pvz.2_Missense_Mutation_p.T431I|PDZD3_uc010rzd.1_Missense_Mutation_p.T418I|PDZD3_uc001pwa.2_Missense_Mutation_p.T127I	p.T497I			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	8	2014	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	497			PDZ 4.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.1490C>T		.	.	.	.	.	.	.	.	.	.	C	14.25	2.479392	0.44044	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	4.96	4.02	0.46733	PDZ/DHR/GLGF (4);	0.285094	0.33364	N	0.004999	T	0.27349	0.0671	N	0.11927	0.2	0.80722	D	1	D;D;D;D	0.76494	0.999;0.98;0.989;0.991	D;P;P;D	0.71656	0.974;0.866;0.864;0.909	T	0.05852	-1.0860	10	0.38643	T	0.18	-8.0705	8.2075	0.31465	0.1787:0.6484:0.1729:0.0	.	418;497;431;417	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	I	418;497;431;417;431;497	ENSP00000434559:T418I;ENSP00000431164:T497I;ENSP00000347742:T431I;ENSP00000327107:T417I;ENSP00000376564:T497I	ENSP00000327107:T417I	T	+	2	0	PDZD3	118564928	0.286000	0.24305	0.992000	0.48379	0.911000	0.54048	0.564000	0.23563	1.020000	0.39573	0.561000	0.74099	ACT		0.602	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791	
VSIG2	23584	broad.mit.edu	37	11	124620786	124620786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:124620786G>A	ENST00000326621.5	-	3	351	c.251C>T	c.(250-252)cCa>cTa	p.P84L	VSIG2_ENST00000403470.1_Missense_Mutation_p.P84L	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	84	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGAACCAGTTGGATACAGATG	0.537																																						uc001qas.2																			0				ovary(3)|central_nervous_system(1)	4						c.(250-252)CCA>CTA		V-set and immunoglobulin domain containing 2							80.0	71.0	74.0					11																	124620786		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124620786G>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.251C>T	11.37:g.124620786G>A	ENSP00000318684:p.Pro84Leu					VSIG2_uc001qat.2_Missense_Mutation_p.P84L	p.P84L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	3	327	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	84			Extracellular (Potential).|Ig-like V-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.251C>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663510	0.29515	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.66099	-0.19;-0.19	5.28	3.28	0.37604	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.422391	0.22553	N	0.058574	T	0.34135	0.0887	N	0.11818	0.18	0.45515	D	0.998477	B	0.14438	0.01	B	0.17722	0.019	T	0.11299	-1.0593	10	0.09338	T	0.73	.	3.6372	0.08153	0.2037:0.0:0.5975:0.1988	.	84	Q96IQ7	VSIG2_HUMAN	L	84	ENSP00000318684:P84L;ENSP00000385013:P84L	ENSP00000318684:P84L	P	-	2	0	VSIG2	124125996	0.946000	0.32159	0.995000	0.50966	0.992000	0.81027	1.330000	0.33781	1.463000	0.47967	0.655000	0.94253	CCA		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312	
SLC6A13	6540	broad.mit.edu	37	12	333649	333649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:333649C>T	ENST00000343164.4	-	10	1143	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R272Q|SLC6A13_ENST00000539668.1_5'Flank	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	364					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCACAGCCCGCGGGTAAGC	0.617																																						uc001qic.1																			0					0						c.(1090-1092)CGG>CAG		solute carrier family 6 (neurotransmitter							110.0	97.0	101.0					12																	333649		2203	4299	6502	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333649C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1091G>A	12.37:g.333649C>T	ENSP00000339260:p.Arg364Gln					SLC6A13_uc009zdj.1_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.1_Missense_Mutation_p.R272Q	p.R364Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1144	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		364					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1091G>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804842	0.50315	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.74315	-0.83;-0.83	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	N	0.21324	0.655	0.37553	D	0.91875	P;P;P	0.43788	0.817;0.631;0.631	P;B;B	0.45681	0.49;0.171;0.354	T	0.66677	-0.5863	10	0.33141	T	0.24	.	10.5823	0.45263	0.0:0.8534:0.0:0.1466	.	272;343;364	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	Q	272;343;364	ENSP00000407104:R272Q;ENSP00000339260:R364Q	ENSP00000318097:R343Q	R	-	2	0	SLC6A13	203910	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.909000	0.56363	1.381000	0.46364	0.448000	0.29417	CGG		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	
TMTC1	83857	broad.mit.edu	37	12	29786150	29786150	+	Missense_Mutation	SNP	C	C	T	rs375595309		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:29786150C>T	ENST00000539277.1	-	6	1116	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	TMTC1_ENST00000256062.5_Missense_Mutation_p.R245Q|TMTC1_ENST00000551659.1_Missense_Mutation_p.R415Q|TMTC1_ENST00000381224.2_Missense_Mutation_p.R307Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.R415Q|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	353						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGCTAAGTTCCGCATGTCCCA	0.498																																						uc001rjb.2																			0					0						c.(733-735)CGG>CAG		transmembrane and tetratricopeptide repeat		C	GLN/ARG,GLN/ARG	1,4405		0,1,2202	125.0	112.0	116.0		1058,734	5.5	1.0	12		116	0,8600		0,0,4300	no	missense,missense	TMTC1	NM_001193451.1,NM_175861.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	353/883,245/775	29786150	1,13005	2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29786150C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1058G>A	12.37:g.29786150C>T	ENSP00000442046:p.Arg353Gln					TMTC1_uc001riz.2_Missense_Mutation_p.R2Q|TMTC1_uc001rja.2_Missense_Mutation_p.R89Q|TMTC1_uc001rjc.1_Missense_Mutation_p.R307Q	p.R245Q	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			6	1208	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		353					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.734G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	.	35	5.523712	0.96431	2.27E-4	0.0	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.53	5.53	0.82687	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.86502	2.82	0.53688	D	0.999977	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82234	-0.0558	9	.	.	.	-29.6752	18.03	0.89281	0.0:1.0:0.0:0.0	.	307;353;415	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	Q	116;245;415;415;353;307	ENSP00000256062:R245Q;ENSP00000448112:R415Q;ENSP00000449043:R415Q;ENSP00000442046:R353Q;ENSP00000370622:R307Q	.	R	-	2	0	TMTC1	29677417	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	6.989000	0.76219	2.582000	0.87167	0.655000	0.94253	CGG		0.498	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
ARHGAP9	64333	broad.mit.edu	37	12	57872982	57872982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:57872982G>A	ENST00000356411.2	-	2	346	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P70S|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P70S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P149S|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.P141S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGGTGGAGGGAGCTTCTAGG	0.567																																						uc001sod.2																			0				lung(1)	1						c.(421-423)CCC>TCC		Rho GTPase activating protein 9 isoform 1							154.0	129.0	137.0					12																	57872982		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872982G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.208C>T	12.37:g.57872982G>A	ENSP00000348782:p.Pro70Ser					ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.2_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	p.P141S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	614	-			70			SH3.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.421C>T		.	.	.	.	.	.	.	.	.	.	G	17.84	3.487117	0.63962	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.25414	3.15;3.14;1.8;3.06	4.97	4.07	0.47477	Src homology-3 domain (3);	0.162807	0.41396	N	0.000893	T	0.20047	0.0482	N	0.01576	-0.805	0.29267	N	0.870937	D;P;D;P;P	0.89917	1.0;0.896;1.0;0.873;0.896	D;P;D;B;P	0.91635	0.999;0.669;0.999;0.441;0.576	T	0.07597	-1.0764	10	0.40728	T	0.16	.	8.615	0.33826	0.1046:0.0:0.8954:0.0	.	70;149;70;70;70	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	S	70;70;70;141;119	ENSP00000377380:P70S;ENSP00000348782:P70S;ENSP00000394307:P70S;ENSP00000377386:P141S	ENSP00000344852:P119S	P	-	1	0	ARHGAP9	56159249	0.997000	0.39634	0.995000	0.50966	0.978000	0.69477	0.959000	0.29240	2.460000	0.83146	0.655000	0.94253	CCC		0.567	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
NTN4	59277	broad.mit.edu	37	12	96180812	96180812	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:96180812A>G	ENST00000343702.4	-	2	938	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	NTN4_ENST00000538383.1_Missense_Mutation_p.C127R|NTN4_ENST00000553059.1_Missense_Mutation_p.C164R|NTN4_ENST00000344911.4_Missense_Mutation_p.C127R	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	164	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGCGGAGCAGTTAGTCGCA	0.493																																						uc001tei.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(490-492)TGC>CGC		netrin 4 precursor							106.0	100.0	102.0					12																	96180812		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96180812A>G	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.490T>C	12.37:g.96180812A>G	ENSP00000340998:p.Cys164Arg					NTN4_uc009ztf.2_Missense_Mutation_p.C164R|NTN4_uc009ztg.2_Missense_Mutation_p.C127R	p.C164R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			2	939	-			164			Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.490T>C	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813349	0.70912	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	5.62	5.62	0.85841	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97323	0.9945	10	0.87932	D	0	.	15.8259	0.78706	1.0:0.0:0.0:0.0	.	164;164	Q9HB63-2;Q9HB63	.;NET4_HUMAN	R	164;127;127;164;127	ENSP00000340998:C164R;ENSP00000339436:C127R;ENSP00000444432:C127R;ENSP00000447292:C164R;ENSP00000447594:C127R	ENSP00000340998:C164R	C	-	1	0	NTN4	94704943	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.730000	0.91510	2.141000	0.66446	0.454000	0.30748	TGC		0.493	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
UNC119B	84747	broad.mit.edu	37	12	121154526	121154526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:121154526C>T	ENST00000344651.4	+	3	494	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	152					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCGCCTCCGGACAGTCGG	0.532																																						uc001tyz.2																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(454-456)CGG>TGG		unc-119 homolog B							195.0	182.0	186.0					12																	121154526		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121154526C>T		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.454C>T	12.37:g.121154526C>T	ENSP00000344942:p.Arg152Trp						p.R152W	NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN			3	901	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		152						Missense_Mutation	SNP	ENST00000344651.4	37	c.454C>T	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717849	0.89205	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	4.9	0.64082	Immunoglobulin E-set (1);	0.138471	0.46442	D	0.000289	D	0.83266	0.5217	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.86553	0.1836	9	0.87932	D	0	-9.5151	16.0406	0.80679	0.1352:0.8648:0.0:0.0	.	152	A6NIH7	U119B_HUMAN	W	152	.	ENSP00000344942:R152W	R	+	1	2	UNC119B	119638909	0.979000	0.34478	1.000000	0.80357	0.985000	0.73830	2.513000	0.45494	1.400000	0.46741	0.655000	0.94253	CGG		0.532	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533	
KBTBD6	89890	broad.mit.edu	37	13	41705381	41705381	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr13:41705381G>A	ENST00000379485.1	-	1	1501	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	KBTBD6_ENST00000499385.2_Silent_p.L357L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	423										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCACGACACAGCAAGCGATCT	0.493																																						uc001uxu.1																			0				ovary(1)|skin(1)	2						c.(1267-1269)CTG>TTG		kelch repeat and BTB (POZ) domain-containing 6							113.0	108.0	110.0					13																	41705381		2203	4300	6503	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41705381G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1267C>T	13.37:g.41705381G>A						KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.L357L|uc001uxv.1_5'Flank	p.L423L	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1556	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	423			Kelch 1.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.1267C>T	CCDS9376.1																																																																																				0.493	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
CXADRP2	646243	broad.mit.edu	37	15	22016356	22016356	+	IGR	SNP	C	C	T	rs199887961		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:22016356C>T								DKFZP547L112 (4306 upstream) : MIR3118-6 (32917 downstream)																							GATCCATCAACGTAACATCTT	0.388																																						uc010tzk.1																			0					0						c.(361-363)GTT>ATT		RecName: Full=Coxsackievirus and adenovirus receptor; AltName: Full=Coxsackievirus B-adenovirus receptor; AltName: Full=HCVADR;          Short=hCAR; AltName: Full=CVB3-binding protein; Flags: Precursor;																																				SO:0001628	intergenic_variant	646243							g.chr15:22016356C>T																													15.37:g.22016356C>T							p.V121I	NR_024387						1	523	-									Missense_Mutation	SNP		37	c.361G>A																																																																																				0	0.388								
C15orf52	388115	broad.mit.edu	37	15	40630791	40630791	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:40630791C>T	ENST00000559313.1	-	5	605	c.590G>A	c.(589-591)cGt>cAt	p.R197H	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	197							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCGGGTCACACGCCCTCCAGG	0.577											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zlh.3																			0				large_intestine(1)	1						c.(589-591)CGT>CAT		hypothetical protein LOC388115							111.0	122.0	118.0					15																	40630791		2043	4182	6225	SO:0001583	missense	388115							g.chr15:40630791C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.590G>A	15.37:g.40630791C>T	ENSP00000453969:p.Arg197His		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	C15orf52_uc001zli.1_Missense_Mutation_p.R129H|C15orf52_uc010ucn.1_5'Flank	p.R197H	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	606	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	197					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.590G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471495	0.43942	.	.	ENSG00000188549	ENST00000382688;ENST00000397535	.	.	.	4.16	2.22	0.28083	.	0.799142	0.10816	N	0.630946	T	0.18718	0.0449	N	0.08118	0	0.09310	N	0.999992	D;P	0.62365	0.991;0.923	P;B	0.48982	0.597;0.276	T	0.08106	-1.0738	9	0.25751	T	0.34	-1.4205	5.457	0.16596	0.0:0.6834:0.2045:0.1121	.	129;197	Q6ZUT6-3;Q6ZUT6	.;CO052_HUMAN	H	197;129	.	ENSP00000372135:R197H	R	-	2	0	C15orf52	38418083	0.000000	0.05858	0.119000	0.21687	0.035000	0.12851	-0.178000	0.09782	0.385000	0.24970	-0.253000	0.11424	CGT		0.577	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380	
TP53BP1	7158	broad.mit.edu	37	15	43773221	43773221	+	Splice_Site	SNP	C	C	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:43773221C>G	ENST00000263801.3	-	5	609		c.e5-1		TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382039.3_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCCAGAACACTACACAGCAG	0.458								Other conserved DNA damage response genes																														uc001zrs.2																			0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.e5-1	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							183.0	148.0	160.0					15																	43773221		2201	4298	6499	SO:0001630	splice_region_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43773221C>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.357-1G>C	15.37:g.43773221C>G						TP53BP1_uc010udp.1_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.3_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.3_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	p.S119_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	5	505	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)						F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Splice_Site	SNP	ENST00000263801.3	37	c.357_splice	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819935	0.50633	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7505	0.62904	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53BP1	41560513	1.000000	0.71417	0.996000	0.52242	0.598000	0.36846	3.303000	0.51858	2.706000	0.92434	0.467000	0.42956	.		0.458	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		Intron
POLR2M	81488	broad.mit.edu	37	15	58006757	58006757	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:58006757G>A	ENST00000299638.3	+	4	1201	c.987G>A	c.(985-987)gcG>gcA	p.A329A	POLR2M_ENST00000380557.4_Silent_p.A172A|GCOM1_ENST00000380569.2_Silent_p.A511A|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Silent_p.A726A|GCOM1_ENST00000380568.3_Missense_Mutation_p.R443H	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	329					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)	p.A329A(1)|p.A511A(1)									AGCTCGCAGCGCAAAAATTAG	0.398																																						uc002aeo.2																			2	Substitution - coding silent(2)		kidney(2)	ovary(1)	1						c.(1327-1329)CGC>CAC		GRINL1A combined protein isoform 2							84.0	90.0	88.0					15																	58006757		2192	4292	6484	SO:0001819	synonymous_variant	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:58006757G>A	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.987G>A	15.37:g.58006757G>A						GCOM1_uc002aem.2_Silent_p.A511A|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA|GRINL1A_uc002aes.2_Silent_p.A98A|GRINL1A_uc010ugu.1_RNA|GRINL1A_uc002aet.3_Silent_p.A329A|GRINL1A_uc002aeu.3_Silent_p.A172A	p.R443H	NM_001018091	NP_001018101	P0CAP1	GCOM1_HUMAN			13	1447	+			51					Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	ENST00000299638.3	37	c.1328G>A	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409690	0.25465	.	.	ENSG00000137878	ENST00000380568	T	0.24151	1.87	5.65	3.33	0.38152	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04481	-1.0948	8	0.39692	T	0.17	-6.9896	7.2821	0.26318	0.7695:0.1398:0.0907:0.0	.	443	P0CAP1-2	.	H	443	ENSP00000369942:R443H	ENSP00000369942:R443H	R	+	2	0	GCOM1	55794049	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	0.286000	0.18902	0.505000	0.28104	-0.140000	0.14226	CGC		0.398	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2		
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:3140535C>T	ENST00000252463.2	-	5	822	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602																																						uc002ctv.1																			0				ovary(1)	1						c.(733-735)CCG>CCA		zinc finger and SCAN domain containing 10							41.0	46.0	44.0					16																	3140535		2196	4296	6492	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140535C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.735G>A	16.37:g.3140535C>T						ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	p.P245P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	823	-			245					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.735G>A	CCDS10493.1																																																																																				0.602	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805	
MYH11	4629	broad.mit.edu	37	16	15818586	15818586	+	Missense_Mutation	SNP	C	C	T	rs150883363	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:15818586C>T	ENST00000300036.5	-	30	4143	c.4034G>A	c.(4033-4035)cGg>cAg	p.R1345Q	NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000342673.5_3'UTR|MYH11_ENST00000576790.2_Missense_Mutation_p.R1345Q|NDE1_ENST00000396354.1_3'UTR|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Missense_Mutation_p.R1352Q|MYH11_ENST00000452625.2_Missense_Mutation_p.R1352Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1345					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGCTGTTCCGCTCCTCCTC	0.597			T	CBFB	AML								C|||	2	0.000399361	0.0008	0.0	5008	,	,		19712	0.001		0.0	False		,,,				2504	0.0					uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4033-4035)CGG>CAG		smooth muscle myosin heavy chain 11 isoform		C	GLN/ARG,GLN/ARG,,GLN/ARG,,GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	156.0	147.0	150.0		4055,4055,,4034,,4034	3.3	1.0	16	dbSNP_134	150	0,8600		0,0,4300	no	missense,missense,utr-3,missense,utr-3,missense	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	43,43,,43,,43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,,benign,,benign	1352/1946,1352/1980,,1345/1973,,1345/1939	15818586	1,12993	2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15818586C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4034G>A	16.37:g.15818586C>T	ENSP00000300036:p.Arg1345Gln					MYH11_uc002ddv.2_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1345Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1352Q|MYH11_uc010bvg.2_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_RNA	p.R1345Q	NM_002474	NP_002465	P35749	MYH11_HUMAN			30	4141	-			1345			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4034G>A	CCDS10565.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.69	2.612185	0.46631	2.28E-4	0.0	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.27	3.32	0.38043	Myosin tail (1);	0.241384	0.38663	N	0.001618	T	0.70902	0.3277	L	0.28192	0.835	0.40720	D	0.982655	B;B;B;B;B	0.10296	0.003;0.001;0.001;0.003;0.003	B;B;B;B;B	0.24541	0.017;0.003;0.003;0.009;0.054	T	0.64041	-0.6500	10	0.30078	T	0.28	.	8.1712	0.31256	0.0:0.7524:0.0:0.2476	.	1352;1345;1352;1345;1352	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1345;1345;1352;1352;1352	ENSP00000300036:R1345Q;ENSP00000345136:R1345Q;ENSP00000379616:R1352Q;ENSP00000407821:R1352Q	ENSP00000300036:R1345Q	R	-	2	0	MYH11	15726087	0.994000	0.37717	1.000000	0.80357	0.952000	0.60782	1.505000	0.35736	1.225000	0.43566	0.655000	0.94253	CGG		0.597	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
PRKCB	5579	broad.mit.edu	37	16	24231309	24231309	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:24231309G>A	ENST00000321728.7	+	17	2066	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	631	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTCCAACTTCGACAAAGAGTT	0.433																																						uc002dmd.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1891-1893)GAC>AAC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						103.0	95.0	98.0					16																	24231309		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24231309G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1891G>A	16.37:g.24231309G>A	ENSP00000318315:p.Asp631Asn					PRKCB_uc002dme.2_3'UTR	p.D631N	NM_212535	NP_997700	P05771	KPCB_HUMAN			17	2088	+			631			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1891G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118217	0.94385	.	.	ENSG00000166501	ENST00000321728	D	0.84800	-1.9	5.9	5.9	0.94986	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.	.	.	.	D	0.96244	0.8775	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97628	1.0140	9	0.87932	D	0	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	631	P05771	KPCB_HUMAN	N	631	ENSP00000318315:D631N	ENSP00000318315:D631N	D	+	1	0	PRKCB	24138810	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.467000	0.97671	2.798000	0.96311	0.650000	0.86243	GAC		0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
CHD9	80205	broad.mit.edu	37	16	53337775	53337775	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:53337775C>T	ENST00000398510.3	+	30	5944	c.5857C>T	c.(5857-5859)Cca>Tca	p.P1953S	CHD9_ENST00000564845.1_Missense_Mutation_p.P1953S|CHD9_ENST00000566029.1_Missense_Mutation_p.P1953S|CHD9_ENST00000447540.1_Missense_Mutation_p.P1953S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1953					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTGCCATCCAAATCCAGA	0.478																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(5857-5859)CCA>TCA		chromodomain helicase DNA binding protein 9							84.0	83.0	83.0					16																	53337775		1944	4146	6090	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53337775C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5857C>T	16.37:g.53337775C>T	ENSP00000381522:p.Pro1953Ser					CHD9_uc002egy.2_Missense_Mutation_p.P1953S|CHD9_uc002ehc.2_Missense_Mutation_p.P1953S|CHD9_uc002ehf.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_5'UTR	p.P1953S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6021	+		all_cancers(37;0.0212)	1953					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5857C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.960196	0.74016	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.87412	-2.25;-2.25	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000009	D	0.92896	0.7740	M	0.72894	2.215	0.52501	D	0.999957	P;D;D	0.67145	0.562;0.993;0.996	P;P;P	0.62298	0.544;0.796;0.9	D	0.92406	0.5933	10	0.72032	D	0.01	-16.1639	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1953;1953;1953	Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;CHD9_HUMAN;.	S	1953	ENSP00000396345:P1953S;ENSP00000381522:P1953S	ENSP00000381522:P1953S	P	+	1	0	CHD9	51895276	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.916000	0.56416	2.937000	0.99478	0.650000	0.86243	CCA		0.478	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
ASGR2	433	broad.mit.edu	37	17	7005462	7005462	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:7005462G>T	ENST00000380952.2	-	8	981	c.717C>A	c.(715-717)gaC>gaA	p.D239E	ASGR2_ENST00000446679.2_Missense_Mutation_p.D220E|ASGR2_ENST00000355035.5_Missense_Mutation_p.D239E|ASGR2_ENST00000254850.7_Missense_Mutation_p.D215E	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	239	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCCATCACTGTCCGTGAGAC	0.458																																						uc002gep.3																			0				ovary(1)	1						c.(715-717)GAC>GAA		asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)						371.0	350.0	357.0					17																	7005462		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7005462G>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.717C>A	17.37:g.7005462G>T	ENSP00000370339:p.Asp239Glu					ASGR2_uc010vtk.1_Missense_Mutation_p.D76E|ASGR2_uc002gem.1_Missense_Mutation_p.D178E|ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.1_Missense_Mutation_p.D234E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E	p.D239E	NM_001181	NP_001172	P07307	ASGR2_HUMAN			8	982	-			239			C-type lectin.|Extracellular (Potential).		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.717C>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597379	0.28445	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.41	1.12	0.20585	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.619232	0.14205	N	0.334414	T	0.33933	0.0880	M	0.87547	2.89	0.09310	N	1	B;B;B;B;B	0.23058	0.001;0.036;0.079;0.029;0.036	B;B;B;B;B	0.37144	0.003;0.111;0.149;0.096;0.242	T	0.42565	-0.9444	10	0.66056	D	0.02	.	7.8569	0.29487	0.0:0.4182:0.4157:0.1662	.	215;239;234;220;239	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	E	239;215;239;220	ENSP00000347140:D239E;ENSP00000254850:D215E;ENSP00000370339:D239E;ENSP00000405844:D220E	ENSP00000254850:D215E	D	-	3	2	ASGR2	6946186	0.002000	0.14202	0.015000	0.15790	0.783000	0.44284	0.126000	0.15769	0.297000	0.22615	0.650000	0.86243	GAC		0.458	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914	
KIF19	124602	broad.mit.edu	37	17	72346919	72346919	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:72346919G>A	ENST00000389916.4	+	12	1600	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	AC103809.2_ENST00000599136.1_Missense_Mutation_p.S131L	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	488					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGCTAAGGACGACAGCGAGAA	0.637																																						uc002jkm.3																			0					0						c.(1462-1464)GAC>AAC		kinesin family member 19							125.0	113.0	117.0					17																	72346919		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346919G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1462G>A	17.37:g.72346919G>A	ENSP00000374566:p.Asp488Asn					KIF19_uc002jkj.2_Missense_Mutation_p.D488N|KIF19_uc002jkk.2_Missense_Mutation_p.D446N|KIF19_uc002jkl.2_Missense_Mutation_p.D446N	p.D488N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			12	1600	+			488					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1462G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	g	14.36	2.512353	0.44660	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74002	-0.8;-0.52	5.36	5.36	0.76844	.	.	.	.	.	T	0.67420	0.2891	L	0.54323	1.7	0.52099	D	0.999941	B;P;P;P	0.40681	0.193;0.727;0.6;0.6	B;B;B;B	0.29862	0.068;0.099;0.108;0.108	T	0.70128	-0.4957	9	0.37606	T	0.19	.	17.9209	0.88965	0.0:0.0:1.0:0.0	.	488;446;446;488	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	N	446;488	ENSP00000449134:D446N;ENSP00000374566:D488N	ENSP00000374566:D488N	D	+	1	0	KIF19	69858514	1.000000	0.71417	0.161000	0.22692	0.036000	0.12997	8.418000	0.90250	2.527000	0.85204	0.455000	0.32223	GAC		0.637	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
DSG3	1830	broad.mit.edu	37	18	29056162	29056162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:29056162C>T	ENST00000257189.4	+	16	3022	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	980					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)			GCTGGCCCAACGCAGCTACGA	0.488																																						uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2938-2940)ACG>ATG		desmoglein 3 preproprotein							132.0	124.0	127.0					18																	29056162		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.chr18:29056162C>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.2939C>T	18.37:g.29056162C>T	ENSP00000257189:p.Thr980Met					DSG3_uc002kwt.2_Missense_Mutation_p.T262M	p.T980M	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	3048	+			980			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2939C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	3.555	-0.090956	0.07053	.	.	ENSG00000134757	ENST00000257189	T	0.76709	-1.04	5.44	1.73	0.24493	.	1.113030	0.06905	N	0.806642	T	0.59715	0.2214	N	0.12746	0.255	0.09310	N	1	B	0.25743	0.133	B	0.13407	0.009	T	0.42682	-0.9437	10	0.28530	T	0.3	.	8.5255	0.33302	0.0:0.5404:0.0:0.4596	.	980	P32926	DSG3_HUMAN	M	980	ENSP00000257189:T980M	ENSP00000257189:T980M	T	+	2	0	DSG3	27310160	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	0.360000	0.20250	0.109000	0.17891	0.591000	0.81541	ACG		0.488	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
ZBTB7C	201501	broad.mit.edu	37	18	45567452	45567452	+	Silent	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:45567452A>G	ENST00000588982.1	-	3	528	c.27T>C	c.(25-27)atT>atC	p.I9I	ZBTB7C_ENST00000535628.2_Silent_p.I9I|ZBTB7C_ENST00000332053.2_Silent_p.I9I|ZBTB7C_ENST00000586438.1_Silent_p.I9I|ZBTB7C_ENST00000590800.1_Silent_p.I9I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	9							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGGAATGCCAATGAGCTCAT	0.582																																						uc002lda.2																			0				ovary(1)	1						c.(25-27)ATT>ATC		zinc finger and BTB domain containing 7C							80.0	74.0	76.0					18																	45567452		2203	4300	6503	SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567452A>G	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.27T>C	18.37:g.45567452A>G						ZBTB7C_uc002ldb.2_Silent_p.I9I|ZBTB7C_uc010dnu.2_Silent_p.I18I|ZBTB7C_uc010dnv.2_Silent_p.I31I|ZBTB7C_uc010dnw.2_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I	p.I9I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			1	43	-			9					O73453	Silent	SNP	ENST00000588982.1	37	c.27T>C	CCDS32830.1																																																																																				0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
CHAF1A	10036	broad.mit.edu	37	19	4409752	4409752	+	Missense_Mutation	SNP	G	G	A	rs112018734		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:4409752G>A	ENST00000301280.5	+	3	1057	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	319					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCCTCCGCAGAGTGAGT	0.627								Chromatin Structure																														uc002mal.2																			0				ovary(1)|skin(1)	2						c.(955-957)CGC>CAC	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)		G	HIS/ARG	0,4406		0,0,2203	51.0	49.0	50.0		956	-5.2	0.0	19	dbSNP_132	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHAF1A	NM_005483.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	319/957	4409752	1,13005	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409752G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.956G>A	19.37:g.4409752G>A	ENSP00000301280:p.Arg319His						p.R319H	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1056	+		Hepatocellular(1079;0.137)	319					Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.956G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398935	0.42512	0.0	1.16E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.05513	3.43	5.78	-5.18	0.02840	.	.	.	.	.	T	0.03520	0.0101	N	0.15975	0.35	0.09310	N	0.999999	B	0.15719	0.014	B	0.06405	0.002	T	0.45323	-0.9269	9	0.87932	D	0	-1.1276	7.6318	0.28243	0.4888:0.0:0.4046:0.1065	.	319	Q13111	CAF1A_HUMAN	H	319	ENSP00000301280:R319H	ENSP00000301280:R319H	R	+	2	0	CHAF1A	4360752	0.014000	0.17966	0.003000	0.11579	0.050000	0.14768	0.073000	0.14640	-0.638000	0.05509	0.591000	0.81541	CGC		0.627	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
ACP7	390928	broad.mit.edu	37	19	39589268	39589268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:39589268C>T	ENST00000331256.5	+	3	566	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	PAPL_ENST00000594229.1_Missense_Mutation_p.L98F	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		98						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										CCGAGTCACGCTTCGCAAGCT	0.647																																						uc002oki.2																			0					0						c.(292-294)CTT>TTT		iron/zinc purple acid phosphatase-like protein							31.0	31.0	31.0					19																	39589268		2203	4299	6502	SO:0001583	missense	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39589268C>T																												ENST00000331256.5:c.292C>T	19.37:g.39589268C>T	ENSP00000327557:p.Leu98Phe					PAPL_uc010egl.2_Missense_Mutation_p.L98F	p.L98F	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			3	566	+			98					B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	c.292C>T	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925388	0.73213	.	.	ENSG00000183760	ENST00000331256	D	0.87729	-2.29	5.17	5.17	0.71159	Purple acid phosphatase-like, N-terminal (1);Purple acid phosphatase, N-terminal (1);	0.000000	0.64402	D	0.000003	D	0.94095	0.8107	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95015	0.8155	10	0.87932	D	0	-22.4241	16.1449	0.81559	0.0:1.0:0.0:0.0	.	98	Q6ZNF0	PAPL_HUMAN	F	98	ENSP00000327557:L98F	ENSP00000327557:L98F	L	+	1	0	AC011443.1	44281108	1.000000	0.71417	0.924000	0.36721	0.321000	0.28281	4.808000	0.62583	2.394000	0.81467	0.655000	0.94253	CTT		0.647	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
PSG9	5678	broad.mit.edu	37	19	43766068	43766068	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:43766068T>C	ENST00000270077.3	-	3	749	c.653A>G	c.(652-654)gAa>gGa	p.E218G	PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.E218G|PSG9_ENST00000244293.7_Missense_Mutation_p.E218G|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	218	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTCCGTATTTCACATTCATA	0.512																																						uc002owd.3																			0				ovary(1)|skin(1)	2						c.(652-654)GAA>GGA		pregnancy specific beta-1-glycoprotein 9							200.0	199.0	199.0					19																	43766068		2203	4298	6501	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766068T>C	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.653A>G	19.37:g.43766068T>C	ENSP00000270077:p.Glu218Gly					PSG9_uc002owe.3_Missense_Mutation_p.E218G|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G|PSG9_uc002owh.2_Intron	p.E218G	NM_002784	NP_002775	Q00887	PSG9_HUMAN			3	752	-		Prostate(69;0.00682)	218			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.653A>G	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	13.22	2.171010	0.38315	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.13089	2.62;2.62	2.12	1.03	0.20045	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28699	0.0711	M	0.71871	2.18	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.99;0.999	T	0.02639	-1.1130	9	0.62326	D	0.03	.	4.1729	0.10337	0.0:0.204:0.0:0.796	.	218;218;218	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	G	218;179;218	ENSP00000270077:E218G;ENSP00000244293:E218G	ENSP00000244293:E218G	E	-	2	0	PSG9	48457908	0.007000	0.16637	0.251000	0.24312	0.051000	0.14879	0.007000	0.13174	-0.080000	0.12685	0.163000	0.16589	GAA		0.512	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
NLRP5	126206	broad.mit.edu	37	19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:56539799C>T	ENST00000390649.3	+	7	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502																																						uc002qmj.2																			0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2200-2202)CGG>TGG		NACHT, LRR and PYD containing protein 5							148.0	148.0	148.0					19																	56539799		2011	4186	6197	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539799C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2200C>T	19.37:g.56539799C>T	ENSP00000375063:p.Arg734Trp					NLRP5_uc002qmi.2_Missense_Mutation_p.R715W	p.R734W	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2200	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	734			LRR 2.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2200C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134092	0.37630	.	.	ENSG00000171487	ENST00000390649	D	0.89681	-2.55	3.26	-0.548	0.11833	.	2.283940	0.02282	N	0.069451	D	0.86644	0.5982	M	0.65975	2.015	0.09310	N	1	P	0.40083	0.702	B	0.33121	0.158	T	0.75110	-0.3433	10	0.87932	D	0	.	8.5602	0.33505	0.6101:0.3899:0.0:0.0	.	734	P59047	NALP5_HUMAN	W	734	ENSP00000375063:R734W	ENSP00000375063:R734W	R	+	1	2	NLRP5	61231611	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.116000	0.10724	-0.001000	0.14495	0.561000	0.74099	CGG		0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						uc010ylg.1																			0					0						c.(388-390)CGC>CAC		transcription factor 23							103.0	111.0	108.0					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN			2	389	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769	
PLB1	151056	broad.mit.edu	37	2	28764631	28764631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:28764631G>A	ENST00000327757.5	+	13	876	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	PLB1_ENST00000422425.2_Missense_Mutation_p.V289M	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	278	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V278M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCTTCACCGTGGTTTTCCA	0.592																																						uc002rmb.1																			1	Substitution - Missense(1)	p.V278M(1)	large_intestine(1)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(832-834)GTG>ATG		phospholipase B1 precursor							68.0	64.0	66.0					2																	28764631		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28764631G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.832G>A	2.37:g.28764631G>A	ENSP00000330442:p.Val278Met					PLB1_uc010ezj.1_Missense_Mutation_p.V289M	p.V278M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			13	832	+	Acute lymphoblastic leukemia(172;0.155)		278			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.832G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950703	0.53186	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.26067	1.93;1.76	5.6	3.76	0.43208	.	0.000000	0.64402	D	0.000006	T	0.55210	0.1906	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59279	-0.7484	10	0.59425	D	0.04	-20.1904	9.031	0.36258	0.0:0.1605:0.6728:0.1667	.	289;278	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	M	278;289	ENSP00000330442:V278M;ENSP00000416440:V289M	ENSP00000330442:V278M	V	+	1	0	PLB1	28618135	0.936000	0.31750	0.613000	0.29037	0.567000	0.35839	1.495000	0.35627	0.806000	0.34183	0.561000	0.74099	GTG		0.592	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
RAB11FIP5	26056	broad.mit.edu	37	2	73315522	73315544	+	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA	-	rs138135562		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	ENST00000258098.6	-	3	1442_1464	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	c.(1201-1224)cttggacaggaggagctgagtgctfs	p.LGQEELSA401fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	401					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.L406L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGCCTGAGCACTCAGCTCCTCCTGTCCAAGCACTGCCTC	0.637																																						uc002siu.3																			1	Substitution - coding silent(1)		cervix(1)		0						c.(1201-1224)CTTGGACAGGAGGAGCTGAGTGCTfs		RAB11 family interacting protein 5 (class I)																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	2.37:g.73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	ENSP00000258098:p.Leu401fs					RAB11FIP5_uc002sit.3_Frame_Shift_Del_p.L323fs	p.L401fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1443_1465	-			401_408					O94939|Q9P0M1	Frame_Shift_Del	DEL	ENST00000258098.6	37	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	CCDS1923.1																																																																																				0.637	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
TTN	7273	broad.mit.edu	37	2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:179455353G>A	ENST00000591111.1	-	254	56400	c.56176C>T	c.(56176-56178)Cgg>Tgg	p.R18726W	TTN_ENST00000460472.2_Missense_Mutation_p.R11302W|TTN_ENST00000359218.5_Missense_Mutation_p.R11427W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11494W|TTN_ENST00000589042.1_Missense_Mutation_p.R20367W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17799W|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {ECO:0000269|PubMed:17344846}.		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)			TTGATGGGCCGGCAAGCTTTT	0.433																																						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.(53395-53397)CGG>TGG		titin isoform N2-A							109.0	107.0	107.0					2																	179455353		1876	4108	5984	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455353G>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.56176C>T	2.37:g.179455353G>A	ENSP00000465570:p.Arg18726Trp					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R11494W|TTN_uc010zfi.1_Missense_Mutation_p.R11427W|TTN_uc010zfj.1_Missense_Mutation_p.R11302W	p.R17799W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	53619	-			18726					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.53395C>T		.	.	.	.	.	.	.	.	.	.	G	10.43	1.346961	0.24426	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67382	0.2887	M	0.72118	2.19	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66917	-0.5802	9	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	11302;11427;11494;18726	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	17799;11302;11494;11427;11300	ENSP00000343764:R17799W;ENSP00000434586:R11302W;ENSP00000340554:R11494W;ENSP00000352154:R11427W	ENSP00000340554:R11494W	R	-	1	2	TTN	179163599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.212000	0.58514	2.906000	0.99361	0.655000	0.94253	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
STAT1	6772	broad.mit.edu	37	2	191862974	191862974	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:191862974T>A	ENST00000361099.3	-	8	989	c.602A>T	c.(601-603)aAg>aTg	p.K201M	STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Missense_Mutation_p.K201M|STAT1_ENST00000392323.2_Missense_Mutation_p.K203M|STAT1_ENST00000392322.3_Missense_Mutation_p.K201M	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	201			K -> N (in IMD31B; not deleterious in terms of most STAT1 functions; causes abnormal splicing out of exon 8 from most mRNAs thereby decreasing protein levels by approximately 70%). {ECO:0000269|PubMed:20841510}.		apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.K201M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TAAATACATCTTCTTGAGTAA	0.338																																						uc002usj.2																			1	Substitution - Missense(1)	p.K201M(1)	central_nervous_system(1)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(601-603)AAG>ATG		signal transducer and activator of transcription	Fludarabine(DB01073)						159.0	153.0	155.0					2																	191862974		2202	4297	6499	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862974T>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.602A>T	2.37:g.191862974T>A	ENSP00000354394:p.Lys201Met					STAT1_uc010fse.1_Missense_Mutation_p.K201M|STAT1_uc002usk.2_Missense_Mutation_p.K201M|STAT1_uc002usl.2_Missense_Mutation_p.K203M|STAT1_uc010fsf.1_Intron	p.K201M	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		8	990	-			201					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.602A>T	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592876	0.46214	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.89	3.67	0.42095	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.356784	0.35772	N	0.002988	T	0.54663	0.1872	L	0.35723	1.085	0.54753	D	0.99998	B;B	0.31859	0.343;0.277	B;P	0.45660	0.26;0.489	T	0.58098	-0.7696	10	0.56958	D	0.05	-26.4507	7.6763	0.28488	0.1366:0.0:0.1419:0.7215	.	201;201	P42224-2;P42224	.;STAT1_HUMAN	M	201;201;201;203;109	ENSP00000354394:K201M;ENSP00000386244:K201M;ENSP00000376136:K201M;ENSP00000376137:K203M	ENSP00000354394:K201M	K	-	2	0	STAT1	191571219	0.944000	0.32072	0.982000	0.44146	0.645000	0.38454	1.554000	0.36266	2.052000	0.61016	0.533000	0.62120	AAG		0.338	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
COL6A3	1293	broad.mit.edu	37	2	238283533	238283533	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:238283533C>T	ENST00000295550.4	-	8	3653	c.3201G>A	c.(3199-3201)gtG>gtA	p.V1067V	COL6A3_ENST00000472056.1_Silent_p.V460V|COL6A3_ENST00000347401.3_Silent_p.V866V|COL6A3_ENST00000409809.1_Silent_p.V861V|COL6A3_ENST00000346358.4_Silent_p.V867V|COL6A3_ENST00000353578.4_Silent_p.V861V|COL6A3_ENST00000392003.2_Silent_p.V660V|COL6A3_ENST00000392004.3_Silent_p.V861V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1067	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACCACGGCCACGCGGACCC	0.602																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3199-3201)GTG>GTA		alpha 3 type VI collagen isoform 1 precursor							62.0	61.0	62.0					2																	238283533		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283533C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3201G>A	2.37:g.238283533C>T						COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.2_Silent_p.V861V|COL6A3_uc002vwr.2_Silent_p.V660V	p.V1067V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3486	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1067			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3201G>A	CCDS33412.1																																																																																				0.602	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
LBP	3929	broad.mit.edu	37	20	36989406	36989406	+	Missense_Mutation	SNP	C	C	T	rs370114388		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:36989406C>T	ENST00000217407.2	+	6	798	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	213					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.L213I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACAGCCTTATCTCCAAACTCT	0.418																																						uc002xic.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(637-639)CTC>TTC		lipopolysaccharide-binding protein precursor		C	PHE/LEU	0,4406		0,0,2203	171.0	169.0	169.0		637	5.3	1.0	20		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	LBP	NM_004139.2	22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	213/482	36989406	1,13005	2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36989406C>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.637C>T	20.37:g.36989406C>T	ENSP00000217407:p.Leu213Phe						p.L213F	NM_004139	NP_004130	P18428	LBP_HUMAN			6	672	+		Myeloproliferative disorder(115;0.00878)	213					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.637C>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868789	0.72065	0.0	1.16E-4	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.13657	2.57	5.28	5.28	0.74379	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000011	T	0.34716	0.0907	M	0.74389	2.26	0.47819	D	0.999528	P	0.50617	0.937	P	0.59643	0.861	T	0.01192	-1.1423	10	0.45353	T	0.12	-35.8502	16.4665	0.84080	0.0:1.0:0.0:0.0	.	213	P18428	LBP_HUMAN	F	213	ENSP00000217407:L213F	ENSP00000217407:L213F	L	+	1	0	LBP	36422820	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.265000	0.58865	2.756000	0.94617	0.655000	0.94253	CTC		0.418	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
SEMG1	6406	broad.mit.edu	37	20	43836503	43836503	+	Nonsense_Mutation	SNP	G	G	T	rs113377758		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:43836503G>T	ENST00000372781.3	+	2	622	c.565G>T	c.(565-567)Gga>Tga	p.G189*	SEMG1_ENST00000244069.6_Nonsense_Mutation_p.G189*	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	189	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AAAACAAGGCGGATCCCAAAG	0.388																																						uc002xni.2																			0				skin(2)	2						c.(565-567)GGA>TGA		semenogelin I preproprotein							82.0	77.0	79.0					20																	43836503		2203	4300	6503	SO:0001587	stop_gained	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836503G>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.565G>T	20.37:g.43836503G>T	ENSP00000361867:p.Gly189*					SEMG1_uc002xnj.2_Nonsense_Mutation_p.G189*|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Nonsense_Mutation_p.G189*	p.G189*	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	622	+		Myeloproliferative disorder(115;0.0122)	189			42 AA repeat 1.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Nonsense_Mutation	SNP	ENST00000372781.3	37	c.565G>T	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764553	0.31228	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	.	.	.	1.02	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	5.3802	0.16187	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000244069:G189X	G	+	1	0	SEMG1	43269917	0.002000	0.14202	0.005000	0.12908	0.008000	0.06430	-0.035000	0.12205	0.843000	0.35070	0.557000	0.71058	GGA		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
ZNF831	128611	broad.mit.edu	37	20	57769723	57769723	+	Nonsense_Mutation	SNP	C	C	T	rs376362684		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:57769723C>T	ENST00000371030.2	+	1	3649	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1217							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAGCAGCCTCCGAGATGAGGG	0.627																																						uc002yan.2																			0				skin(13)|ovary(1)	14						c.(3649-3651)CGA>TGA		zinc finger protein 831		C	stop/ARG	0,4134		0,0,2067	26.0	30.0	29.0		3649	1.6	0.0	20		29	1,8403		0,1,4201	no	stop-gained	ZNF831	NM_178457.1		0,1,6268	TT,TC,CC		0.0119,0.0,0.0080		1217/1678	57769723	1,12537	2067	4202	6269	SO:0001587	stop_gained	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769723C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3649C>T	20.37:g.57769723C>T	ENSP00000360069:p.Arg1217*						p.R1217*	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3649	+	all_lung(29;0.0085)		1217					Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	ENST00000371030.2	37	c.3649C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	40	8.139736	0.98672	0.0	1.19E-4	ENSG00000124203	ENST00000371030	.	.	.	5.05	1.64	0.23874	.	1.713730	0.03065	N	0.156382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	0.162	1.359	0.02188	0.1564:0.4071:0.2399:0.1967	.	.	.	.	X	1217	.	ENSP00000360069:R1217X	R	+	1	2	ZNF831	57203118	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-1.166000	0.03129	1.123000	0.41961	0.609000	0.83330	CGA		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
PKNOX1	5316	broad.mit.edu	37	21	44437070	44437070	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:44437070C>T	ENST00000291547.5	+	6	786	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P75L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	192					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ATTGTGGTGCCGGCGTCCGCG	0.502																																						uc002zcq.1																			0				large_intestine(2)	2						c.(574-576)CCG>CTG		PBX/knotted 1 homeobox 1							51.0	49.0	50.0					21																	44437070		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44437070C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.575C>T	21.37:g.44437070C>T	ENSP00000291547:p.Pro192Leu					PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.2_Missense_Mutation_p.P192L	p.P192L	NM_004571	NP_004562	P55347	PKNX1_HUMAN			6	763	+			192					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.575C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832281	0.71258	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86297	-1.84;-2.1	5.39	5.39	0.77823	.	0.107611	0.64402	D	0.000004	D	0.92218	0.7532	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.998;0.829;0.999	D	0.91078	0.4897	10	0.36615	T	0.2	-15.8831	17.3298	0.87259	0.0:1.0:0.0:0.0	.	192;192;192	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	192;75	ENSP00000291547:P192L;ENSP00000402243:P75L	ENSP00000291547:P192L	P	+	2	0	PKNOX1	43310139	0.998000	0.40836	0.886000	0.34754	0.072000	0.16883	3.951000	0.56684	2.506000	0.84524	0.655000	0.94253	CCG		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3		
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						uc002zea.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(397-402)AAGAAAfs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Frame_Shift_Ins_p.K133fs	p.K133fs	NM_003274	NP_003265	P48553	TPC10_HUMAN			4	568_569	+			133_134					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
SPATC1L	84221	broad.mit.edu	37	21	47588353	47588353	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:47588353C>T	ENST00000291672.5	-	3	1474	c.413G>A	c.(412-414)aGc>aAc	p.S138N	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	138																	TTGCAAGGGGCTCAGGAGCGG	0.652																																						uc011afu.1																			0				skin(1)	1						c.(412-414)AGC>AAC		hypothetical protein LOC84221 isoform 1							33.0	33.0	33.0					21																	47588353		2203	4300	6503	SO:0001583	missense	84221						protein binding	g.chr21:47588353C>T	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.413G>A	21.37:g.47588353C>T	ENSP00000291672:p.Ser138Asn					C21orf56_uc002zii.2_5'UTR	p.S138N	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN		Colorectal(79;0.241)	3	1475	-	Breast(49;0.214)		138					B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	c.413G>A	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678369	0.29783	.	.	ENSG00000160284	ENST00000291672	T	0.54279	0.58	5.21	3.39	0.38822	.	0.311164	0.27650	N	0.018429	T	0.34978	0.0916	N	0.19112	0.55	0.20196	N	0.999923	B	0.06786	0.001	B	0.09377	0.004	T	0.28522	-1.0041	10	0.66056	D	0.02	-9.638	8.1858	0.31337	0.0:0.8127:0.0:0.1873	.	138	Q9H0A9	CU056_HUMAN	N	138	ENSP00000291672:S138N	ENSP00000291672:S138N	S	-	2	0	C21orf56	46412781	0.098000	0.21812	0.925000	0.36789	0.774000	0.43823	0.471000	0.22100	0.588000	0.29660	0.467000	0.42956	AGC		0.652	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261	
FBLN2	2199	broad.mit.edu	37	3	13679197	13679197	+	Silent	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:13679197C>A	ENST00000295760.7	+	17	3402	c.3333C>A	c.(3331-3333)gcC>gcA	p.A1111A	FBLN2_ENST00000492059.1_Silent_p.A1158A|FBLN2_ENST00000535798.1_Silent_p.A1137A|FBLN2_ENST00000404922.3_Silent_p.A1158A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1111	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622																																						uc011avb.1																			0				ovary(1)	1						c.(3331-3333)GCC>GCA		fibulin 2 isoform b precursor							45.0	50.0	48.0					3																	13679197		2141	4235	6376	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679197C>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3333C>A	3.37:g.13679197C>A						FBLN2_uc011auz.1_Silent_p.A1137A|FBLN2_uc011ava.1_Silent_p.A1158A|FBLN2_uc011avc.1_Silent_p.A1158A	p.A1111A	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3458	+			1111			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3333C>A	CCDS46762.1																																																																																				0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
C3orf67	200844	broad.mit.edu	37	3	58849423	58849423	+	Missense_Mutation	SNP	C	C	T	rs571045260		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:58849423C>T	ENST00000482387.1	-	8	1175	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	C3orf67_ENST00000472469.1_Missense_Mutation_p.R267Q|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R360Q|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	360										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGTGCTGATCGTGGTCTTGA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18643	0.0		0.0	False		,,,				2504	0.0					uc003dkt.1																			0					0						c.(1078-1080)CGA>CAA		hypothetical protein LOC200844							146.0	140.0	142.0					3																	58849423		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58849423C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1079G>A	3.37:g.58849423C>T	ENSP00000417122:p.Arg360Gln					C3orf67_uc003dks.1_Missense_Mutation_p.R175Q|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.R175Q|C3orf67_uc003dkw.2_Missense_Mutation_p.R255Q	p.R360Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	12	1488	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	360					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	C	28.8	4.948623	0.92593	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.25579	1.93;1.91;1.79	5.39	5.39	0.77823	.	0.166460	0.40640	N	0.001053	T	0.49406	0.1555	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.46992	-0.9151	10	0.87932	D	0	-15.3205	17.7005	0.88293	0.0:1.0:0.0:0.0	.	267;360;360	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	Q	360;360;65;267	ENSP00000295966:R360Q;ENSP00000417122:R360Q;ENSP00000417271:R267Q	ENSP00000295966:R360Q	R	-	2	0	C3orf67	58824463	0.992000	0.36948	0.996000	0.52242	0.999000	0.98932	2.795000	0.47861	2.678000	0.91216	0.655000	0.94253	CGA		0.473	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
IQCB1	9657	broad.mit.edu	37	3	121489274	121489274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:121489274G>A	ENST00000310864.6	-	15	1929	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	IQCB1_ENST00000349820.6_Missense_Mutation_p.S439F	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	572					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCATCTCCAGATTCTTCTCC	0.448																																						uc010hre.1																			0					0						c.(1714-1716)TCT>TTT		IQ motif containing B1 isoform a							147.0	142.0	144.0					3																	121489274		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489274G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1715C>T	3.37:g.121489274G>A	ENSP00000311505:p.Ser572Phe					IQCB1_uc003eek.2_Missense_Mutation_p.S439F|IQCB1_uc010hrf.1_RNA	p.S572F	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1930	-			572					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1715C>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	5.915	0.352981	0.11182	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79454	-1.27;-1.27	5.49	2.53	0.30540	.	0.846378	0.10901	N	0.621579	T	0.43433	0.1247	N	0.01576	-0.805	0.20638	N	0.999872	B;B	0.17465	0.022;0.001	B;B	0.14023	0.01;0.001	T	0.44065	-0.9352	10	0.05833	T	0.94	0.1309	3.8616	0.08998	0.1983:0.0:0.61:0.1917	.	572;439	Q15051;Q15051-2	IQCB1_HUMAN;.	F	572;439	ENSP00000311505:S572F;ENSP00000323756:S439F	ENSP00000311505:S572F	S	-	2	0	IQCB1	122971964	0.875000	0.30112	0.987000	0.45799	0.935000	0.57460	2.588000	0.46137	0.868000	0.35678	0.650000	0.86243	TCT		0.448	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T	rs554840600		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134080563C>T	ENST00000422605.2	-	6	1532	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	AMOTL2_ENST00000514516.1_Missense_Mutation_p.E514K|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E456K|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E456K			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	456					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652																																						uc003eqf.2																			0				large_intestine(1)	1						c.(1540-1542)GAG>AAG		angiomotin like 2							12.0	13.0	12.0					3																	134080563		2196	4286	6482	SO:0001583	missense	51421							g.chr3:134080563C>T	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1366G>A	3.37:g.134080563C>T	ENSP00000409999:p.Glu456Lys					AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	p.E514K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			6	1657	-			456			Potential.		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1540G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.677346	0.96764	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.32	5.32	0.75619	.	0.048007	0.85682	D	0.000000	T	0.50599	0.1625	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.996	T	0.40869	-0.9540	10	0.48119	T	0.1	-30.6254	19.1782	0.93612	0.0:1.0:0.0:0.0	.	456;456;514	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	K	456;456;514;456	ENSP00000249883:E456K;ENSP00000409999:E456K;ENSP00000424765:E514K;ENSP00000425475:E456K	ENSP00000249883:E456K	E	-	1	0	AMOTL2	135563253	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	5.810000	0.69179	2.769000	0.95229	0.563000	0.77884	GAG		0.652	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201	
EPHB1	2047	broad.mit.edu	37	3	134920443	134920443	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134920443A>G	ENST00000398015.3	+	12	2628	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	EPHB1_ENST00000493838.1_Missense_Mutation_p.N314S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.N753S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTCTGGTCAACAGTAACCTG	0.552																																						uc003eqt.2																			1	Substitution - Missense(1)	p.N753S(1)|p.N753N(1)	central_nervous_system(1)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2257-2259)AAC>AGC		ephrin receptor EphB1 precursor							172.0	174.0	173.0					3																	134920443		2200	4300	6500	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920443A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2258A>G	3.37:g.134920443A>G	ENSP00000381097:p.Asn753Ser					EPHB1_uc003equ.2_Missense_Mutation_p.N314S	p.N753S	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2478	+			753			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2258A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136596	0.77662	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.61980	0.06;0.06	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	N	0.02247	-0.625	0.80722	D	1	B	0.31026	0.304	B	0.23275	0.045	T	0.45086	-0.9285	10	0.56958	D	0.05	.	15.7873	0.78315	1.0:0.0:0.0:0.0	.	753	P54762	EPHB1_HUMAN	S	753;314	ENSP00000381097:N753S;ENSP00000419574:N314S	ENSP00000381097:N753S	N	+	2	0	EPHB1	136403133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.186000	0.69663	0.460000	0.39030	AAC		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
TRIM59	286827	broad.mit.edu	37	3	160156161	160156161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:160156161C>T	ENST00000309784.4	-	3	996	c.811G>A	c.(811-813)Gag>Aag	p.E271K	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.E271K|TRIM59_ENST00000543469.1_Missense_Mutation_p.E271K	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	271					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTGAACCTCAGGAAGTGGT	0.363																																						uc003fdm.2																			0					0						c.(811-813)GAG>AAG		tripartite motif-containing 59							97.0	102.0	100.0					3																	160156161		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156161C>T	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.811G>A	3.37:g.160156161C>T	ENSP00000311219:p.Glu271Lys					IFT80_uc003fda.2_RNA	p.E271K	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	1006	-			271					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.811G>A	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842180	0.32513	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.23147	2.08;1.92	5.77	2.82	0.32997	.	1.107510	0.06571	N	0.748624	T	0.21022	0.0506	L	0.40543	1.245	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.21109	-1.0255	9	.	.	.	-11.8112	6.6293	0.22847	0.0:0.6634:0.1294:0.2072	.	271	Q8IWR1	TRI59_HUMAN	K	271	ENSP00000444313:E271K;ENSP00000311219:E271K	.	E	-	1	0	TRIM59	161638855	0.000000	0.05858	0.827000	0.32855	0.745000	0.42441	0.138000	0.16016	1.449000	0.47699	0.561000	0.74099	GAG		0.363	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
SPATA5	166378	broad.mit.edu	37	4	123868606	123868606	+	Silent	SNP	C	C	T	rs139834687		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:123868606C>T	ENST00000274008.4	+	9	1746	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	559					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.Y559Y(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTCATGGATACGTTGGAGCAG	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15244	0.0		0.0	False		,,,				2504	0.0					uc003iez.3																			1	Substitution - coding silent(1)		prostate(1)		0						c.(1675-1677)TAC>TAT		spermatogenesis associated 5		C		0,4406		0,0,2203	121.0	117.0	118.0		1677	-1.5	1.0	4	dbSNP_134	118	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SPATA5	NM_145207.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		559/894	123868606	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123868606C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1677C>T	4.37:g.123868606C>T						SPATA5_uc003iey.2_Silent_p.Y558Y	p.Y559Y	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			9	1750	+			559					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.1677C>T	CCDS3730.1																																																																																				0.468	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207	
JADE1	79960	broad.mit.edu	37	4	129770286	129770286	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:129770286T>A	ENST00000226319.6	+	5	728	c.448T>A	c.(448-450)Tgg>Agg	p.W150R	PHF17_ENST00000511647.1_Missense_Mutation_p.W150R|PHF17_ENST00000512960.1_Missense_Mutation_p.W150R|PHF17_ENST00000452328.2_Missense_Mutation_p.W138R|PHF17_ENST00000413543.2_Missense_Mutation_p.W150R	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGATGCTGCATGGCTGGAACT	0.468																																						uc003igk.2																			0					0						c.(448-450)TGG>AGG		PHD finger protein 17 long isoform							124.0	108.0	113.0					4																	129770286		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770286T>A																												ENST00000226319.6:c.448T>A	4.37:g.129770286T>A	ENSP00000226319:p.Trp150Arg					PHF17_uc003igj.2_Missense_Mutation_p.W150R|PHF17_uc003igl.2_Missense_Mutation_p.W138R|PHF17_uc011cgy.1_Missense_Mutation_p.W150R|PHF17_uc003igm.2_Missense_Mutation_p.W150R	p.W150R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			5	728	+			150						Missense_Mutation	SNP	ENST00000226319.6	37	c.448T>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281509	0.80692	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.58	4.58	0.56647	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.84168	0.0432	9	.	.	.	.	14.4002	0.67037	0.0:0.0:0.0:1.0	.	138;150;150	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	R	150;150;138;150;150;150	ENSP00000226319:W150R;ENSP00000423737:W150R;ENSP00000388015:W138R;ENSP00000425730:W150R;ENSP00000404211:W150R	.	W	+	1	0	PHF17	129989736	1.000000	0.71417	0.916000	0.36221	0.765000	0.43378	7.193000	0.77780	2.036000	0.60181	0.533000	0.62120	TGG		0.468	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		
FNIP2	57600	broad.mit.edu	37	4	159789510	159789510	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:159789510C>T	ENST00000264433.6	+	13	1797	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N	FNIP2_ENST00000379346.3_Silent_p.N597N	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	574	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGTGAGGAACGAGCCCGCTC	0.537																																						uc003iqe.3																			0					0						c.(1720-1722)AAC>AAT		folliculin interacting protein 2							83.0	89.0	87.0					4																	159789510		2078	4214	6292	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789510C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1722C>T	4.37:g.159789510C>T							p.N574N	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	1905	+	all_hematologic(180;0.24)		574			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.1722C>T	CCDS47155.1																																																																																				0.537	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	
MROH2B	133558	broad.mit.edu	37	5	41052628	41052628	+	Missense_Mutation	SNP	C	C	T	rs566379429	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:41052628C>T	ENST00000399564.4	-	12	1619	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	390								p.R390L(1)									CCATCCTTCCCGAGCTTCAAT	0.393													C|||	4	0.000798722	0.0	0.0	5008	,	,		13192	0.0		0.0	False		,,,				2504	0.0041					uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(1168-1170)CGG>CAG		HEAT repeat family member 7B2							100.0	93.0	95.0					5																	41052628		1872	4105	5977	SO:0001583	missense	133558						binding	g.chr5:41052628C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1169G>A	5.37:g.41052628C>T	ENSP00000382476:p.Arg390Gln					HEATR7B2_uc003jmi.3_Intron	p.R390Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1659	-			390					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1169G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975775	0.34848	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.67865	-0.29	5.53	2.81	0.32909	Armadillo-type fold (1);	0.591456	0.15122	N	0.279323	T	0.54615	0.1869	L	0.47716	1.5	0.09310	N	0.999996	B	0.14012	0.009	B	0.10450	0.005	T	0.39210	-0.9625	10	0.21540	T	0.41	.	7.5783	0.27950	0.0:0.7376:0.0:0.2624	.	390	Q7Z745	HTRB2_HUMAN	Q	94;390	ENSP00000382476:R390Q	ENSP00000296803:R94Q	R	-	2	0	HEATR7B2	41088385	0.020000	0.18652	0.941000	0.38009	0.999000	0.98932	0.483000	0.22292	0.304000	0.22809	0.655000	0.94253	CGG		0.393	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
TRPC7	57113	broad.mit.edu	37	5	135692669	135692669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:135692669C>T	ENST00000513104.1	-	2	689	c.407G>A	c.(406-408)cGc>cAc	p.R136H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R136H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R136H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	136					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCGTCAGGCGCTGGCCCTG	0.672																																						uc003lbn.1																			0					0						c.(403-405)CGC>CAC		transient receptor potential cation channel,							63.0	71.0	68.0					5																	135692669		2203	4300	6503	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692669C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.407G>A	5.37:g.135692669C>T	ENSP00000426070:p.Arg136His					TRPC7_uc010jef.1_Missense_Mutation_p.R127H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R127H|TRPC7_uc010jei.1_Missense_Mutation_p.R127H|TRPC7_uc010jej.1_5'UTR	p.R135H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	407	-			136			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.404G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983479	0.93044	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79033	-1.07;-1.23;-1.17	5.14	5.14	0.70334	Ankyrin repeat-containing domain (2);	0.055828	0.64402	D	0.000001	D	0.82765	0.5108	L	0.34521	1.04	0.44194	D	0.997018	D;D;D;D	0.89917	0.998;0.996;1.0;0.994	P;P;D;D	0.72338	0.806;0.852;0.977;0.93	T	0.82337	-0.0507	10	0.42905	T	0.14	-14.558	18.7977	0.92001	0.0:1.0:0.0:0.0	.	136;136;136;136	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	136	ENSP00000347312:R136H;ENSP00000441628:R136H;ENSP00000426070:R136H	ENSP00000265193:R136H	R	-	2	0	TRPC7	135720568	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.666000	0.90696	0.561000	0.74099	CGC		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
UNC5A	90249	broad.mit.edu	37	5	176304269	176304269	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:176304269G>A	ENST00000329542.4	+	9	1729	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	UNC5A_ENST00000261961.3_Silent_p.P445P	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	485	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACAAGCCGGAAGACGTGA	0.652																																						uc003mey.2																			0				skin(1)	1						c.(1453-1455)CCG>CCA		netrin receptor Unc5h1 precursor							46.0	45.0	46.0					5																	176304269		2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304269G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1455G>A	5.37:g.176304269G>A							p.P485P	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1647	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	485			ZU5.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1455G>A	CCDS34299.1																																																																																				0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	
ATXN1	6310	broad.mit.edu	37	6	16306892	16306892	+	Missense_Mutation	SNP	C	C	T	rs199795863		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:16306892C>T	ENST00000244769.4	-	9	3052	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	ATXN1_ENST00000436367.1_Missense_Mutation_p.V706I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	706	Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGCAGGACGCTGGCGGGA	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17477	0.0		0.0	False		,,,				2504	0.0					uc003nbt.2																			0				skin(3)|central_nervous_system(1)	4						c.(2116-2118)GTC>ATC		ataxin 1							58.0	58.0	58.0					6																	16306892		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16306892C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2116G>A	6.37:g.16306892C>T	ENSP00000244769:p.Val706Ile					ATXN1_uc010jpi.2_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_RNA	p.V706I	NM_000332	NP_000323	P54253	ATX1_HUMAN			9	3087	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	706			Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.2116G>A	CCDS34342.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.97	2.097404	0.37048	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.77229	-1.08;-1.08	6.06	2.96	0.34315	.	0.756408	0.12751	N	0.442176	T	0.25644	0.0624	N	0.02011	-0.69	0.19945	N	0.999944	B	0.09022	0.002	B	0.01281	0.0	T	0.09930	-1.0652	10	0.30854	T	0.27	-21.7506	2.3779	0.04346	0.1914:0.3224:0.3714:0.1148	.	706	P54253	ATX1_HUMAN	I	706	ENSP00000244769:V706I;ENSP00000416360:V706I	ENSP00000244769:V706I	V	-	1	0	ATXN1	16414871	0.357000	0.24938	0.996000	0.52242	0.995000	0.86356	0.407000	0.21049	1.559000	0.49555	0.650000	0.86243	GTC		0.582	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
MICB	4277	broad.mit.edu	37	6	31474865	31474865	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:31474865C>T	ENST00000252229.6	+	4	759	c.680C>T	c.(679-681)gCt>gTt	p.A227V	MICB_ENST00000538442.1_Missense_Mutation_p.A195V|MICB_ENST00000399150.3_Missense_Mutation_p.A184V	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACATGCAGGGCTTCCAGCTTC	0.587																																						uc003ntn.3																			0					0						c.(679-681)GCT>GTT		MHC class I polypeptide-related sequence B							70.0	74.0	72.0					6																	31474865		1396	2638	4034	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31474865C>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.680C>T	6.37:g.31474865C>T	ENSP00000252229:p.Ala227Val					MICB_uc011dnm.1_Missense_Mutation_p.A195V|MICB_uc003nto.3_Missense_Mutation_p.A184V	p.A227V	NM_005931	NP_005922	Q29980	MICB_HUMAN			4	796	+			227			Ig-like C1-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000252229.6	37	c.680C>T	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.696047	0.48202	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.13538	2.58;2.58;2.58	2.73	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.34484	U	0.003926	T	0.15652	0.0377	L	0.59912	1.85	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	T	0.02326	-1.1176	10	0.87932	D	0	.	5.6484	0.17602	0.0:0.8415:0.0:0.1585	.	195;184;227	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	V	195;184;227	ENSP00000442345:A195V;ENSP00000382103:A184V;ENSP00000252229:A227V	ENSP00000252229:A227V	A	+	2	0	MICB	31582844	0.015000	0.18098	0.004000	0.12327	0.016000	0.09150	0.359000	0.20233	1.518000	0.48934	0.305000	0.20034	GCT		0.587	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)aggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493																																						uc003oux.2																			0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(1570-1572)AGGfs		zinc finger protein 318							215.0	222.0	219.0					6																	43323502		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323502delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1570delA	6.37:g.43323502delT	ENSP00000354964:p.Arg526fs					ZNF318_uc003ouw.2_RNA	p.R524fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1648	-			524					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.1570delA	CCDS4895.2																																																																																				0.493	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
KATNA1	11104	broad.mit.edu	37	6	149918283	149918283	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:149918283A>C	ENST00000335647.5	-	9	1237	c.1193T>G	c.(1192-1194)tTg>tGg	p.L398W	KATNA1_ENST00000367411.2_Missense_Mutation_p.L398W|SNORA2_ENST00000365473.1_RNA|KATNA1_ENST00000335643.8_Intron|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCCAATTCCAACTCACGTAG	0.388																																						uc003qmr.1																			0				skin(1)	1						c.(1192-1194)TTG>TGG		katanin p60 subunit A 1							168.0	148.0	154.0					6																	149918283		2202	4300	6502	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149918283A>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1193T>G	6.37:g.149918283A>C	ENSP00000335106:p.Leu398Trp					KATNA1_uc003qms.2_Missense_Mutation_p.L398W|KATNA1_uc003qmt.2_Intron	p.L398W	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	9	1238	-		Ovarian(120;0.0164)	398						Missense_Mutation	SNP	ENST00000335647.5	37	c.1193T>G	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739742	0.89573	.	.	ENSG00000186625	ENST00000335647;ENST00000367411	D;D	0.95412	-3.7;-3.7	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	L	0.37466	1.105	0.80722	D	1	D	0.63046	0.992	D	0.66084	0.941	D	0.94374	0.7598	9	.	.	.	.	15.6054	0.76664	1.0:0.0:0.0:0.0	.	398	O75449	KTNA1_HUMAN	W	398	ENSP00000335106:L398W;ENSP00000356381:L398W	.	L	-	2	0	KATNA1	149959976	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.265000	0.95647	2.089000	0.63090	0.533000	0.62120	TTG		0.388	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044	
SYTL3	94120	broad.mit.edu	37	6	159178400	159178400	+	Missense_Mutation	SNP	C	C	T	rs147104644		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:159178400C>T	ENST00000297239.9	+	13	1489	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	SYTL3_ENST00000360448.3_Missense_Mutation_p.P364L|SYTL3_ENST00000367081.3_Missense_Mutation_p.P158L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	432					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGCTGGCATCCGCTCCGGGCC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17501	0.0		0.0	False		,,,				2504	0.0					uc003qrp.2																			0					0						c.(1294-1296)CCG>CTG		synaptotagmin-like 3		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	89.0	77.0	81.0		1091,1295,1295,1091	0.6	0.0	6	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	364/543,432/611,432/611,364/543	159178400	1,13005	2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178400C>T	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1295C>T	6.37:g.159178400C>T	ENSP00000297239:p.Pro432Leu					SYTL3_uc011efp.1_Missense_Mutation_p.P432L|SYTL3_uc003qro.2_Missense_Mutation_p.P364L|SYTL3_uc003qrq.2_Missense_Mutation_p.P364L|SYTL3_uc003qrr.2_Missense_Mutation_p.P432L|SYTL3_uc003qrs.2_Missense_Mutation_p.P364L|SYTL3_uc011efq.1_Missense_Mutation_p.P158L	p.P432L	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	13	1539	+		Breast(66;0.000776)|Ovarian(120;0.0303)	432					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1295C>T	CCDS56458.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.508	-0.313719	0.05422	2.27E-4	0.0	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.70631	3.04;3.04;-0.5	5.07	0.643	0.17770	C2 calcium/lipid-binding domain, CaLB (1);	0.463786	0.22817	N	0.055262	T	0.56031	0.1958	M	0.65975	2.015	0.31267	N	0.692163	D;D;D	0.63046	0.991;0.992;0.984	P;B;P	0.51657	0.612;0.408;0.676	T	0.50466	-0.8825	10	0.30078	T	0.28	.	6.292	0.21065	0.4178:0.413:0.0:0.1692	.	158;432;364	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	L	364;432;432;158	ENSP00000353631:P364L;ENSP00000297239:P432L;ENSP00000356048:P158L	ENSP00000297239:P432L	P	+	2	0	SYTL3	159098388	0.551000	0.26497	0.001000	0.08648	0.141000	0.21300	1.263000	0.33004	0.168000	0.19655	0.491000	0.48974	CCG		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		
MLLT4	4301	broad.mit.edu	37	6	168363130	168363130	+	Silent	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363130G>C	ENST00000447894.2	+	30	4830	c.4830G>C	c.(4828-4830)cgG>cgC	p.R1610R	MLLT4_ENST00000351017.4_Silent_p.R1617R|MLLT4_ENST00000400822.3_Silent_p.R1620R|MLLT4_ENST00000392112.1_Silent_p.R1593R|MLLT4_ENST00000344191.4_Silent_p.R1622R|MLLT4_ENST00000392108.3_Silent_p.R1608R|MLLT4_ENST00000366806.2_Silent_p.R1610R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1610					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACGAGGAGCGGAGGCGGCAGC	0.547			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4858-4860)CGG>CGC		myeloid/lymphoid or mixed-lineage leukemia							49.0	62.0	58.0					6																	168363130		2057	4204	6261	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168363130G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4830G>C	6.37:g.168363130G>C						MLLT4_uc003qwc.1_Silent_p.R1608R|MLLT4_uc003qwg.1_Silent_p.R919R	p.R1620R	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	31	5002	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1610			Potential.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4860G>C		.	.	.	.	.	.	.	.	.	.	G	8.413	0.844513	0.16963	.	.	ENSG00000130396	ENST00000507704;ENST00000476946	.	.	.	4.37	-2.37	0.06643	.	.	.	.	.	T	0.51415	0.1673	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59064	-0.7524	4	.	.	.	-5.2912	13.9837	0.64321	0.0869:0.651:0.2622:0.0	.	.	.	.	A	99;86	.	.	G	+	2	0	MLLT4	168105979	0.920000	0.31207	0.209000	0.23619	0.954000	0.61252	0.077000	0.14738	-0.228000	0.09869	-0.229000	0.12294	GGA		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
MLLT4	4301	broad.mit.edu	37	6	168363191	168363191	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363191G>C	ENST00000447894.2	+	30	4891	c.4891G>C	c.(4891-4893)Gag>Cag	p.E1631Q	MLLT4_ENST00000351017.4_Missense_Mutation_p.E1638Q|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1641Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1614Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1643Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1629Q|MLLT4_ENST00000366806.2_Missense_Mutation_p.E1631Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1631					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGAGGCAAGAGGAAGAGCG	0.542			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4921-4923)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia							88.0	111.0	103.0					6																	168363191		2034	4171	6205	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168363191G>C	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4891G>C	6.37:g.168363191G>C	ENSP00000404595:p.Glu1631Gln					MLLT4_uc003qwc.1_Missense_Mutation_p.E1629Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q	p.E1641Q	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	31	5063	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1631			Potential.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4921G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289646|3.289646	0.59976|0.59976	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704;ENST00000476946	T;T;T;T;T;T;T|.	0.60548|.	3.76;0.18;3.52;0.18;0.18;0.39;0.18|.	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.66694|0.66694	0.2815|0.2815	M|M	0.70595|0.70595	2.14|2.14	0.52099|0.52099	D|D	0.999946|0.999946	D;D;D|.	0.71674|.	0.997;0.998;0.996|.	D;D;D|.	0.80764|.	0.986;0.994;0.991|.	T|T	0.68496|0.68496	-0.5393|-0.5393	10|5	0.54805|.	T|.	0.06|.	-3.0466|-3.0466	16.5979|16.5979	0.84801|0.84801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1631;1641;1629|.	P55196;P55196-5;P55196-6|.	AFAD_HUMAN;.;.|.	Q|N	1643;1638;1629;1631;1614;1643;1641;1631|119;106	ENSP00000341118:E1643Q;ENSP00000252692:E1638Q;ENSP00000375956:E1629Q;ENSP00000355771:E1631Q;ENSP00000375960:E1614Q;ENSP00000383623:E1641Q;ENSP00000404595:E1631Q|.	ENSP00000345834:E1643Q|.	E|K	+|+	1|3	0|2	MLLT4|MLLT4	168106040|168106040	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.040000|0.040000	0.13550|0.13550	8.223000|8.223000	0.89779|0.89779	1.963000|1.963000	0.57068|0.57068	0.591000|0.591000	0.81541|0.81541	GAG|AAG		0.542	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
ABCB5	340273	broad.mit.edu	37	7	20689724	20689724	+	Missense_Mutation	SNP	C	C	T	rs144527025	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:20689724C>T	ENST00000404938.2	+	12	1938	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	429	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGAAGAGTACGGTAGTCCAG	0.468													C|||	9	0.00179712	0.0068	0.0	5008	,	,		16367	0.0		0.0	False		,,,				2504	0.0					uc003suw.3																			0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(-51--47)TACGG>TATGG		ATP-binding cassette, sub-family B, member 5		C	MET/THR,,,	15,3121		0,15,1553	100.0	89.0	92.0		1286,,,	5.1	0.9	7	dbSNP_134	92	0,7164		0,0,3582	yes	missense,utr-5,utr-5,utr-5	ABCB5	NM_001163941.1,NM_001163942.1,NM_001163993.1,NM_178559.5	81,,,	0,15,5135	TT,TC,CC		0.0,0.4783,0.1456	probably-damaging,,,	429/1258,,,	20689724	15,10285	1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20689724C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1286C>T	7.37:g.20689724C>T	ENSP00000384881:p.Thr429Met					ABCB5_uc010kuh.2_Missense_Mutation_p.T429M|ABCB5_uc003suv.3_Translation_Start_Site|ABCB5_uc011jyi.1_Translation_Start_Site		NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			3	497	+								A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Translation_Start_Site	SNP	ENST00000404938.2	37	c.-49C>T	CCDS55090.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	20.3	3.973212	0.74246	0.004783	0.0	ENSG00000004846	ENST00000404938	D	0.95035	-3.59	5.14	5.14	0.70334	.	.	.	.	.	D	0.97288	0.9113	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96147	0.9105	9	0.87932	D	0	.	18.4761	0.90793	0.0:1.0:0.0:0.0	.	429	A7BKA4	.	M	429	ENSP00000384881:T429M	ENSP00000384881:T429M	T	+	2	0	ABCB5	20656249	1.000000	0.71417	0.941000	0.38009	0.629000	0.37895	5.839000	0.69395	2.775000	0.95449	0.650000	0.86243	ACG		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
EGFR	1956	broad.mit.edu	37	7	55240707	55240707	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55240707G>A	ENST00000275493.2	+	17	2128	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V606M|EGFR_ENST00000454757.2_Missense_Mutation_p.V598M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	651					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.V651M(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACTGGGATGGTGGGGGCCCT	0.622		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		2	Substitution - Missense(2)	p.V651M(2)	lung(1)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1951-1953)GTG>ATG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92.0	81.0	84.0					7																	55240707		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240707G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1951G>A	7.37:g.55240707G>A	ENSP00000275493:p.Val651Met	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.V606M|EGFR_uc011kco.1_Missense_Mutation_p.V598M	p.V651M	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2197	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		651			Helical; (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1951G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655898	0.67586	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.76968	-1.05;-1.06;-1.05	5.67	4.78	0.61160	.	0.054586	0.64402	D	0.000001	D	0.82356	0.5019	M	0.81942	2.565	0.58432	D	0.999991	P;P	0.43662	0.814;0.814	P;P	0.47251	0.508;0.542	D	0.85099	0.0956	10	0.72032	D	0.01	.	13.6691	0.62414	0.0764:0.0:0.9236:0.0	.	606;651	Q504U8;P00533	.;EGFR_HUMAN	M	606;521;651;598;445	ENSP00000415559:V606M;ENSP00000275493:V651M;ENSP00000395243:V598M	ENSP00000275493:V651M	V	+	1	0	EGFR	55208201	1.000000	0.71417	0.361000	0.25849	0.252000	0.25951	7.579000	0.82511	2.647000	0.89833	0.655000	0.94253	GTG		0.622	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
SEPT14	346288	broad.mit.edu	37	7	55874788	55874788	+	Silent	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55874788T>A	ENST00000388975.3	-	8	1097	c.981A>T	c.(979-981)ccA>ccT	p.P327P		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	327					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCACCTAACTGGCTGGTTGT	0.348																																						uc003tqz.2																			0					0						c.(979-981)CCA>CCT		septin 14							96.0	90.0	92.0					7																	55874788		2203	4300	6503	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874788T>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.981A>T	7.37:g.55874788T>A							p.P327P	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1098	-	Breast(14;0.214)		327					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.981A>T	CCDS5519.2																																																																																				0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						uc003trg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)GTA>ATA		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I	p.V116I	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	709	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
DYNC1I1	1780	broad.mit.edu	37	7	95499217	95499217	+	Missense_Mutation	SNP	G	G	A	rs201114371	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:95499217G>A	ENST00000324972.6	+	6	641	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V113M|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V133M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V113M|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V130M|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V133M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	150					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAAACTGGGCGTGTCAAAGGT	0.453													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20381	0.0		0.0	False		,,,				2504	0.0					uc003uoc.3																			0				ovary(3)|kidney(1)	4						c.(448-450)GTG>ATG		dynein, cytoplasmic 1, intermediate chain 1							144.0	133.0	137.0					7																	95499217		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95499217G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.448G>A	7.37:g.95499217G>A	ENSP00000320130:p.Val150Met					DYNC1I1_uc003uod.3_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.2_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.V139M	p.V150M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		6	725	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		150					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.448G>A	CCDS5644.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	4.959	0.178065	0.09443	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.75260	-0.6;-0.54;-0.92;-0.62;-0.7;-0.6	5.33	5.33	0.75918	.	0.063242	0.64402	D	0.000007	T	0.45677	0.1354	N	0.00841	-1.15	0.49299	D	0.999778	B;B;B;B;B	0.29646	0.253;0.102;0.213;0.253;0.213	B;B;B;B;B	0.23150	0.044;0.026;0.026;0.044;0.026	T	0.52019	-0.8631	10	0.23302	T	0.38	-2.5743	18.1916	0.89808	0.0:0.0:1.0:0.0	.	133;130;133;150;113	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	M	133;150;113;130;113;133	ENSP00000392337:V133M;ENSP00000320130:V150M;ENSP00000438377:V113M;ENSP00000398118:V130M;ENSP00000352348:V113M;ENSP00000412444:V133M	ENSP00000320130:V150M	V	+	1	0	DYNC1I1	95337153	1.000000	0.71417	0.981000	0.43875	0.975000	0.68041	4.060000	0.57477	2.673000	0.90976	0.650000	0.86243	GTG		0.453	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
IFT22	64792	broad.mit.edu	37	7	100959700	100959700	+	Silent	SNP	C	C	T	rs145991606	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:100959700C>T	ENST00000315322.4	-	4	423	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.P80P|RABL5_ENST00000517481.1_Silent_p.P33P|RABL5_ENST00000498704.2_Silent_p.P33P	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		110					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCTGTAAGGACGGCTGTTGGA	0.473													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19113	0.0		0.001	False		,,,				2504	0.0					uc003uyl.2																			0					0						c.(328-330)CCG>CCA		RAB, member RAS oncogene family-like 5 isoform		C	,,,	19,4387	27.2+/-55.0	0,19,2184	213.0	179.0	191.0		240,99,99,330	5.2	0.8	7	dbSNP_134	191	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RABL5	NM_001130820.1,NM_001130821.1,NM_001130822.1,NM_022777.2	,,,	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	,,,	80/156,33/109,33/109,110/186	100959700	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	64792						GTP binding	g.chr7:100959700C>T																												ENST00000315322.4:c.330G>A	7.37:g.100959700C>T						RABL5_uc011kkk.1_Silent_p.P33P|RABL5_uc011kkl.1_Silent_p.P33P|RABL5_uc003uym.2_Silent_p.P80P|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Silent_p.P110P	p.P110P	NM_022777	NP_073614	Q9H7X7	RABL5_HUMAN			4	433	-	Lung NSC(181;0.215)		110					Q49AG1|Q69YV5|Q9BSW4	Silent	SNP	ENST00000315322.4	37	c.330G>A	CCDS5719.1																																																																																				0.473	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347565.1		
LAMB4	22798	broad.mit.edu	37	7	107671256	107671256	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:107671256C>T	ENST00000388781.3	-	32	5070	c.4987G>A	c.(4987-4989)Gag>Aag	p.E1663K	LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1663K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E1663K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1663	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGACCTTCTCAAGACTCCCA	0.473																																						uc010ljo.1																			0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4987-4989)GAG>AAG		laminin, beta 4 precursor							223.0	182.0	196.0					7																	107671256		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107671256C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4987G>A	7.37:g.107671256C>T	ENSP00000373433:p.Glu1663Lys					LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	p.E1663K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			32	5071	-			1663			Potential.|Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4987G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	4.073	0.011369	0.07912	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;D;T	0.85013	1.48;1.48;-1.93;1.5	5.32	2.5	0.30297	.	0.547984	0.16240	N	0.223195	T	0.73016	0.3533	L	0.39898	1.24	0.09310	N	0.999998	B;B	0.22983	0.078;0.02	B;B	0.24701	0.055;0.005	T	0.54609	-0.8268	10	0.06891	T	0.86	.	4.7697	0.13150	0.0:0.628:0.1788:0.1931	.	1663;1663	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	K	1663;1663;689;1663	ENSP00000205386:E1663K;ENSP00000373433:E1663K;ENSP00000416562:E689K;ENSP00000373432:E1663K	ENSP00000205386:E1663K	E	-	1	0	LAMB4	107458492	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.200000	0.09478	0.363000	0.24346	0.585000	0.79938	GAG		0.473	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
BRAF	673	broad.mit.edu	37	7	140453148	140453148	+	Missense_Mutation	SNP	C	C	T	rs397507483		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:140453148C>T	ENST00000288602.6	-	15	1847	c.1787G>A	c.(1786-1788)gGt>gAt	p.G596D		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:17344846}.|G -> V (in CFC1). {ECO:0000269|PubMed:16439621}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G596D(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGTAGCTAGACCAAAATCACC	0.388		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	2	Substitution - Missense(2)	p.G596R(4)|p.G596D(2)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(1)	cervix(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	GRCh37	CM060877	BRAF	M		c.(1786-1788)GGT>GAT		B-Raf	Sorafenib(DB00398)						108.0	101.0	104.0					7																	140453148		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453148C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1787G>A	7.37:g.140453148C>T	ENSP00000288602:p.Gly596Asp						p.G596D	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1848	-	Melanoma(164;0.00956)		596		G -> R (in a colorectal adenocarcinoma sample; somatic mutation).|G -> V (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1787G>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.243334|5.243334	0.95272|0.95272	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.99893|.	-7.57|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87712|0.87712	0.6246|0.6246	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90507|0.90507	0.4478|0.4478	10|5	0.87932|.	D|.	0|.	.|.	19.7917|19.7917	0.96461|0.96461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	596|.	P15056|.	BRAF_HUMAN|.	D|I	596|204	ENSP00000288602:G596D|.	ENSP00000288602:G596D|.	G|V	-|-	2|1	0|0	BRAF|BRAF	140099617|140099617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.702000|7.702000	0.84576|0.84576	2.686000|2.686000	0.91538|0.91538	0.650000|0.650000	0.86243|0.86243	GGT|GTC		0.388	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
ADAM9	8754	broad.mit.edu	37	8	38873654	38873654	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:38873654G>A	ENST00000487273.2	+	5	429	c.351G>A	c.(349-351)cgG>cgA	p.R117R	SNORD38_ENST00000384470.1_RNA	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	117				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.|R -> Q (in Ref. 4; BAA03499). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTCATTATCGGGGCTATGTGG	0.338																																						uc003xmr.2																			0				ovary(1)|central_nervous_system(1)	2						c.(349-351)CGG>CGA		ADAM metallopeptidase domain 9 isoform 1							209.0	194.0	199.0					8																	38873654		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38873654G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.351G>A	8.37:g.38873654G>A						ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	p.R117R	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		5	429	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	117	Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).		Extracellular (Potential).		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.351G>A	CCDS6112.1																																																																																				0.338	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
RP1	6101	broad.mit.edu	37	8	55539225	55539225	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:55539225C>A	ENST00000220676.1	+	4	2931	c.2783C>A	c.(2782-2784)aCt>aAt	p.T928N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	928					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATATCCAACTTTAAAGCCT	0.328																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			0				skin(7)|ovary(4)|pancreas(1)	12						c.(2782-2784)ACT>AAT		retinitis pigmentosa RP1 protein							35.0	37.0	36.0					8																	55539225		2200	4300	6500	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539225C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2783C>A	8.37:g.55539225C>A	ENSP00000220676:p.Thr928Asn					RP1_uc011ldy.1_Intron	p.T928N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2931	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	928						Missense_Mutation	SNP	ENST00000220676.1	37	c.2783C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327863	0.24080	.	.	ENSG00000104237	ENST00000220676	T	0.47177	0.85	5.89	4.06	0.47325	.	1.015710	0.07881	N	0.969478	T	0.30479	0.0766	L	0.29908	0.895	0.09310	N	1	P	0.45902	0.868	B	0.34038	0.174	T	0.27331	-1.0077	10	0.72032	D	0.01	.	3.728	0.08482	0.183:0.5443:0.0:0.2728	.	928	P56715	RP1_HUMAN	N	928	ENSP00000220676:T928N	ENSP00000220676:T928N	T	+	2	0	RP1	55701778	0.066000	0.20996	0.001000	0.08648	0.723000	0.41478	0.777000	0.26718	0.781000	0.33589	0.655000	0.94253	ACT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	rs371267637		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H|RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15673	0.0		0.0	False		,,,				2504	0.0					uc003ycq.3																			0				ovary(1)	1						c.(472-474)CGT>CAT		RALY RNA binding protein-like isoform 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3846		0,2,1922	59.0	61.0	60.0		512,473,473,473	5.2	1.0	8		60	1,8273		0,1,4136	no	missense,missense,missense,missense	RALYL	NM_001100391.1,NM_001100392.1,NM_001100393.1,NM_173848.5	29,29,29,29	0,3,6058	AA,AG,GG		0.0121,0.052,0.0247	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	171/305,158/292,158/292,158/292	85774590	3,12119	1924	4137	6061	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774590G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.473G>A	8.37:g.85774590G>A	ENSP00000430367:p.Arg158His					RALYL_uc003ycr.3_Missense_Mutation_p.R158H|RALYL_uc003ycs.3_Missense_Mutation_p.R158H|RALYL_uc010lzy.2_Missense_Mutation_p.R147H|RALYL_uc003yct.3_Missense_Mutation_p.R171H|RALYL_uc003ycu.3_Missense_Mutation_p.R85H|RALYL_uc003ycv.3_Missense_Mutation_p.R70H	p.R158H	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			7	889	+			158					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.473G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409671	0.83340	5.2E-4	1.21E-4	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.25749	2.31;2.31;2.31;2.39;2.29;1.94;1.78	5.25	5.25	0.73442	.	0.048014	0.85682	D	0.000000	T	0.49762	0.1576	L	0.58810	1.83	0.43275	D	0.995234	P;D;P;P;D	0.89917	0.755;1.0;0.953;0.939;1.0	B;D;B;P;D	0.79784	0.312;0.993;0.267;0.565;0.993	T	0.47433	-0.9118	10	0.62326	D	0.03	-4.6088	19.1979	0.93696	0.0:0.0:1.0:0.0	.	147;158;85;171;158	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	158;158;158;147;171;85;69	ENSP00000430394:R158H;ENSP00000428667:R158H;ENSP00000430367:R158H;ENSP00000430065:R147H;ENSP00000430128:R171H;ENSP00000428807:R85H;ENSP00000428310:R69H	ENSP00000430128:R171H	R	+	2	0	RALYL	85937145	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT		0.507	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
COL22A1	169044	broad.mit.edu	37	8	139856384	139856384	+	Missense_Mutation	SNP	C	C	T	rs184963131	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:139856384C>T	ENST00000303045.6	-	4	1122	c.676G>A	c.(676-678)Gtt>Att	p.V226I	COL22A1_ENST00000435777.1_Missense_Mutation_p.V226I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	226					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTACACGAACGCTAGGACAG	0.463										HNSCC(7;0.00092)			C|||	2	0.000399361	0.0	0.0	5008	,	,		23701	0.002		0.0	False		,,,				2504	0.0					uc003yvd.2																			0				ovary(11)|pancreas(1)|skin(1)	13						c.(676-678)GTT>ATT		collagen, type XXII, alpha 1							283.0	250.0	261.0					8																	139856384		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139856384C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.676G>A	8.37:g.139856384C>T	ENSP00000303153:p.Val226Ile	HNSCC(7;0.00092)					p.V226I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		4	1123	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		226					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.676G>A	CCDS6376.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	3.944	-0.013691	0.07681	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.88664	-2.41;-2.32	5.01	2.23	0.28157	.	0.152115	0.29730	N	0.011343	T	0.74336	0.3703	N	0.12961	0.28	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.57545	-0.7793	9	.	.	.	.	5.1043	0.14775	0.0:0.6432:0.1711:0.1857	.	226	Q8NFW1	COMA1_HUMAN	I	226	ENSP00000303153:V226I;ENSP00000387655:V226I	.	V	-	1	0	COL22A1	139925566	0.996000	0.38824	0.009000	0.14445	0.292000	0.27327	2.247000	0.43151	0.307000	0.22880	0.650000	0.86243	GTT		0.463	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
C9orf131	138724	broad.mit.edu	37	9	35043416	35043416	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043416G>A	ENST00000312292.5	+	2	837	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	C9orf131_ENST00000354479.5_Missense_Mutation_p.E191K|C9orf131_ENST00000421362.2_Missense_Mutation_p.E216K|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	264										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAAGATCTAGAAGGGATGGC	0.547																																						uc003zvw.2																			0					0						c.(790-792)GAA>AAA		hypothetical protein LOC138724 isoform A							142.0	128.0	133.0					9																	35043416		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043416G>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.790G>A	9.37:g.35043416G>A	ENSP00000308279:p.Glu264Lys					C9orf131_uc003zvu.2_Missense_Mutation_p.E216K|C9orf131_uc003zvv.2_Missense_Mutation_p.E191K|C9orf131_uc003zvx.2_Missense_Mutation_p.E229K	p.E264K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	819	+	all_epithelial(49;0.22)		264					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.790G>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606367	0.66445	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.44881	1.76;1.73;1.79;0.91	4.95	1.99	0.26369	.	0.140229	0.33161	N	0.005202	T	0.37972	0.1023	M	0.68317	2.08	0.09310	N	1	P;P;P	0.40332	0.713;0.551;0.551	B;B;B	0.40477	0.33;0.209;0.209	T	0.34453	-0.9828	10	0.87932	D	0	-2.4053	5.0742	0.14622	0.1917:0.1728:0.6355:0.0	.	264;191;216	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	K	216;191;264;229	ENSP00000393683:E216K;ENSP00000346472:E191K;ENSP00000308279:E264K;ENSP00000368019:E229K	ENSP00000308279:E264K	E	+	1	0	C9orf131	35033416	0.050000	0.20438	0.124000	0.21820	0.043000	0.13939	0.419000	0.21247	0.650000	0.30769	0.650000	0.86243	GAA		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
C9orf131	138724	broad.mit.edu	37	9	35043985	35043985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043985G>C	ENST00000312292.5	+	2	1406	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	C9orf131_ENST00000354479.5_Missense_Mutation_p.W380C|C9orf131_ENST00000421362.2_Missense_Mutation_p.W405C|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGACACCATGGAAGGGCATGC	0.542																																						uc003zvw.2																			0					0						c.(1357-1359)TGG>TGC		hypothetical protein LOC138724 isoform A							77.0	80.0	79.0					9																	35043985		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043985G>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1359G>C	9.37:g.35043985G>C	ENSP00000308279:p.Trp453Cys					C9orf131_uc003zvu.2_Missense_Mutation_p.W405C|C9orf131_uc003zvv.2_Missense_Mutation_p.W380C|C9orf131_uc003zvx.2_Missense_Mutation_p.W418C	p.W453C	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1388	+	all_epithelial(49;0.22)		453					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1359G>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646326	0.29246	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15834	2.4;2.39;2.4	5.0	2.09	0.27110	.	1.824450	0.02957	N	0.142613	T	0.14227	0.0344	L	0.31420	0.93	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.20384	0.017;0.029;0.029	T	0.24048	-1.0171	10	0.34782	T	0.22	12.4084	5.1292	0.14901	0.1876:0.1722:0.6401:0.0	.	453;380;405	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	C	405;380;453	ENSP00000393683:W405C;ENSP00000346472:W380C;ENSP00000308279:W453C	ENSP00000308279:W453C	W	+	3	0	C9orf131	35033985	0.000000	0.05858	0.001000	0.08648	0.390000	0.30446	0.133000	0.15912	0.699000	0.31761	0.655000	0.94253	TGG		0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
RUSC2	9853	broad.mit.edu	37	9	35548294	35548294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35548294C>A	ENST00000455600.1	+	2	2345	c.1776C>A	c.(1774-1776)tgC>tgA	p.C592*		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	592						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCACTTGCTGTAGCCATA	0.637																																						uc003zww.2																			0				ovary(1)	1						c.(1774-1776)TGC>TGA		RUN and SH3 domain containing 2							44.0	40.0	41.0					9																	35548294		2203	4300	6503	SO:0001587	stop_gained	9853					cytosol		g.chr9:35548294C>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1776C>A	9.37:g.35548294C>A	ENSP00000393922:p.Cys592*					RUSC2_uc010mkq.2_Intron|RUSC2_uc003zwx.3_Nonsense_Mutation_p.C592*	p.C592*	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2031	+			592					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Nonsense_Mutation	SNP	ENST00000455600.1	37	c.1776C>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494455	0.96339	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	.	.	.	5.86	2.91	0.33838	.	1.025130	0.07661	N	0.933640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.1489	6.2397	0.20783	0.2385:0.58:0.1156:0.0659	.	.	.	.	X	592	.	ENSP00000355177:C592X	C	+	3	2	RUSC2	35538294	0.012000	0.17670	0.909000	0.35828	0.809000	0.45718	0.021000	0.13489	0.766000	0.33244	-0.169000	0.13324	TGC		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
EXOSC3	51010	broad.mit.edu	37	9	37785036	37785036	+	Silent	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:37785036G>T	ENST00000327304.5	-	1	18	c.6C>A	c.(4-6)gcC>gcA	p.A2A	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'Flank|EXOSC3_ENST00000396521.3_Silent_p.A2A	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	2					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACGCAGGTTCGGCCATCGCGG	0.662																																						uc004aal.2																			0				breast(2)	2						c.(4-6)GCC>GCA		exosome component 3 isoform 1							14.0	15.0	14.0					9																	37785036		2199	4294	6493	SO:0001819	synonymous_variant	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37785036G>T	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.6C>A	9.37:g.37785036G>T						EXOSC3_uc010mly.1_Silent_p.A2A|EXOSC3_uc004aam.2_Silent_p.A2A	p.A2A	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	1	32	-			2					A8K0K6|Q5QP85|Q9Y3A8	Silent	SNP	ENST00000327304.5	37	c.6C>A	CCDS35016.1																																																																																				0.662	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042	
OR13F1	138805	broad.mit.edu	37	9	107266629	107266629	+	Missense_Mutation	SNP	C	C	T	rs191015152	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:107266629C>T	ENST00000334726.2	+	1	175	c.86C>T	c.(85-87)gCg>gTg	p.A29V		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCATATTTGCGGTGTGCTTG	0.418													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19901	0.001		0.001	False		,,,				2504	0.0					uc011lvm.1																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(85-87)GCG>GTG		olfactory receptor, family 13, subfamily F,		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	120.0	125.0		86	-1.4	0.1	9		125	0,8600		0,0,4300	yes	missense	OR13F1	NM_001004485.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	29/320	107266629	1,13005	2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266629C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.86C>T	9.37:g.107266629C>T	ENSP00000334452:p.Ala29Val						p.A29V	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	86	+			29			Helical; Name=1; (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.86C>T	CCDS35087.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	0.003	-2.490952	0.00161	2.27E-4	0.0	ENSG00000186881	ENST00000334726	T	0.00384	7.6	3.91	-1.43	0.08884	.	0.972477	0.08401	N	0.951439	T	0.00073	0.0002	N	0.00453	-1.485	0.19300	N	0.999972	B	0.06786	0.001	B	0.06405	0.002	T	0.28808	-1.0032	10	0.02654	T	1	.	4.9732	0.14127	0.0:0.3918:0.1738:0.4344	.	29	Q8NGS4	O13F1_HUMAN	V	29	ENSP00000334452:A29V	ENSP00000334452:A29V	A	+	2	0	OR13F1	106306450	0.002000	0.14202	0.126000	0.21872	0.028000	0.11728	1.345000	0.33953	-0.241000	0.09681	-1.197000	0.01672	GCG		0.418	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		
