#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
ZCCHC17	51538	broad.mit.edu	37	1	31810124	31810125	+	Splice_Site	INS	-	-	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:31810124_31810125insA	ENST00000373714.1	+	4	486		c.e4+2		ZCCHC17_ENST00000479629.1_Splice_Site|ZCCHC17_ENST00000546109.1_Splice_Site|ZCCHC17_ENST00000344147.5_Splice_Site|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000422613.2_Splice_Site	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17							cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GGCCGAGAGGTAAAGTTCTGTG	0.426																																						uc001bsp.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.e4+2		Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.																																				SO:0001630	splice_region_variant	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31810124_31810125insA	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.225+2->A	1.37:g.31810127_31810127dupA						ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice	p.E75_splice	NM_016505	NP_057589	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	4	361	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	75			S1 motif.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Splice_Site	INS	ENST00000373714.1	37	c.225_splice	CCDS341.1																																																																																				0.426	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505	Intron
RPL5	6125	broad.mit.edu	37	1	93300358	93300358	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:93300358G>A	ENST00000370321.3	+	4	302	c.212G>A	c.(211-213)gGg>gAg	p.G71E	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CGTATAGAGGGGGATATGATA	0.413																																						uc001doz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(211-213)gGg>gAg		Homo sapiens ribosomal protein L5 (RPL5), mRNA.							118.0	123.0	122.0					1																	93300358		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300358G>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.212G>A	1.37:g.93300358G>A	ENSP00000359345:p.Gly71Glu					FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G21E|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	p.G71E	NM_000969	NP_000960	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	3	290	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	71					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.212G>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437247	0.96168	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.81078	-1.45	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	H	0.98664	4.295	0.80722	D	1	D	0.60160	0.987	D	0.68943	0.961	D	0.95698	0.8746	10	0.66056	D	0.02	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	71	P46777	RL5_HUMAN	E	21;71;21	ENSP00000359345:G71E	ENSP00000359338:G21E	G	+	2	0	RPL5	93072946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.849000	0.99510	2.398000	0.81561	0.655000	0.94253	GGG		0.413	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	
BCAR3	8412	broad.mit.edu	37	1	94032953	94032953	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:94032953C>T	ENST00000370244.1	-	13	2470	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	BCAR3_ENST00000539242.1_Missense_Mutation_p.D404N|BCAR3_ENST00000260502.6_Missense_Mutation_p.D728N|BCAR3_ENST00000370243.1_Missense_Mutation_p.D728N|BCAR3_ENST00000370247.3_Missense_Mutation_p.D637N	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	728	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCCACATGTCGGTTCCTTCA	0.512																																						uc001dpz.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2182-2184)Gac>Aac		Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.							151.0	133.0	139.0					1																	94032953		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032953C>T	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2182G>A	1.37:g.94032953C>T	ENSP00000359264:p.Asp728Asn					BCAR3_uc001dqa.3_Missense_Mutation_p.D728N|BCAR3_uc001dqb.3_Missense_Mutation_p.D728N|BCAR3_uc001dpx.4_Missense_Mutation_p.D404N|BCAR3_uc001dpy.3_Missense_Mutation_p.D637N	p.D728N	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	10	2457	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	728			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2182G>A	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	37	6.053673	0.97241	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.045463	0.85682	D	0.000000	T	0.46347	0.1388	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.993;0.998	P;P	0.61940	0.853;0.896	T	0.25328	-1.0135	10	0.46703	T	0.11	-14.1535	20.1577	0.98120	0.0:1.0:0.0:0.0	.	728;637	O75815;Q5TEW3	BCAR3_HUMAN;.	N	637;728;728;728;404	ENSP00000359267:D637N;ENSP00000260502:D728N;ENSP00000359264:D728N;ENSP00000359263:D728N;ENSP00000441343:D404N	ENSP00000260502:D728N	D	-	1	0	BCAR3	93805541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.767000	0.95098	0.655000	0.94253	GAC		0.512	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		
S1PR1	1901	broad.mit.edu	37	1	101705315	101705317	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:101705315_101705317delATT	ENST00000305352.6	+	2	1150_1152	c.775_777delATT	c.(775-777)attdel	p.I260del		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	260					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CAAGACCGTAATTATCGTCCTGA	0.591																																						uc021oqt.1																			0		p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(775-777)attdel		Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.																																				SO:0001651	inframe_deletion	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705315_101705317delATT	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.775_777delATT	1.37:g.101705315_101705317delATT	ENSP00000305416:p.Ile260del					S1PR1_uc001dud.2_In_Frame_Del_p.I260del|S1PR1_uc009weg.2_In_Frame_Del_p.I260del	p.I260del	NM_001400	NP_001391	P21453	S1PR1_HUMAN			0	775_777	+			260					D3DT66|Q9BYY4|Q9NYN8	In_Frame_Del	DEL	ENST00000305352.6	37	c.775_777delATT	CCDS777.1																																																																																				0.591	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400	
CD58	965	broad.mit.edu	37	1	117078713	117078713	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:117078713G>A	ENST00000369489.5	-	3	568	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_ENST00000369487.3_Missense_Mutation_p.R168C|CD58_ENST00000457047.2_Missense_Mutation_p.R168C	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	168					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343																																						uc001egm.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(502-504)Cgt>Tgt		Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.							132.0	122.0	126.0					1																	117078713		2203	4300	6503	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117078713G>A	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.502C>T	1.37:g.117078713G>A	ENSP00000358501:p.Arg168Cys					CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C	p.R168C	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	2	623	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	168			Ig-like C2-type.		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.502C>T	CCDS888.1	.	.	.	.	.	.	.	.	.	.	G	8.449	0.852656	0.17106	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.45668	0.89;0.89;0.89	3.36	-4.7	0.03288	.	9.108110	0.00166	N	0.000000	T	0.09730	0.0239	N	0.19112	0.55	0.09310	N	1	P;P;P	0.44044	0.825;0.825;0.825	B;B;B	0.36959	0.157;0.237;0.157	T	0.15954	-1.0419	10	0.56958	D	0.05	-0.9774	6.1165	0.20130	0.0:0.4268:0.3314:0.2417	.	168;168;168	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	C	168	ENSP00000358501:R168C;ENSP00000409080:R168C;ENSP00000358499:R168C	ENSP00000358499:R168C	R	-	1	0	CD58	116880236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.763000	0.04740	-1.152000	0.02832	-0.262000	0.10625	CGT		0.343	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779	
SPAG17	200162	broad.mit.edu	37	1	118623774	118623774	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118623774A>T	ENST00000336338.5	-	15	2224	c.2159T>A	c.(2158-2160)cTg>cAg	p.L720Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	720						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCTAACAGCTGTCTATT	0.443																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2158-2160)cTg>cAg		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							183.0	167.0	172.0					1																	118623774		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623774A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2159T>A	1.37:g.118623774A>T	ENSP00000337804:p.Leu720Gln					SPAG17_uc021oss.1_Missense_Mutation_p.L41Q	p.L720Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	2227	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	720					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2159T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	7.235	0.600024	0.13939	.	.	ENSG00000155761	ENST00000336338	T	0.19532	2.14	4.04	-0.715	0.11215	.	1.740000	0.02635	N	0.104774	T	0.10852	0.0265	L	0.40543	1.245	0.09310	N	1	P	0.47677	0.899	P	0.48141	0.568	T	0.17561	-1.0365	10	0.54805	T	0.06	.	7.1807	0.25770	0.5059:0.0:0.4941:0.0	.	720	Q6Q759	SPG17_HUMAN	Q	720	ENSP00000337804:L720Q	ENSP00000337804:L720Q	L	-	2	0	SPAG17	118425297	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.272000	0.08560	-0.129000	0.11620	0.482000	0.46254	CTG		0.443	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118628591	118628591	+	Silent	SNP	A	A	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118628591A>C	ENST00000336338.5	-	13	1781	c.1716T>G	c.(1714-1716)acT>acG	p.T572T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	572						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGACGTTTAGTGTTGTTCC	0.388																																						uc001ehk.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1714-1716)acT>acG		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							169.0	166.0	167.0					1																	118628591		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118628591A>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1716T>G	1.37:g.118628591A>C							p.T572T	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	12	1784	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	572					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.1716T>G	CCDS899.1																																																																																				0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPTA1	6708	broad.mit.edu	37	1	158655079	158655079	+	Missense_Mutation	SNP	C	C	T	rs121918641	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:158655079C>T	ENST00000368147.4	-	2	263	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	28			R -> C (in EL2). {ECO:0000269|PubMed:1679439}.|R -> H (in EL2; Corbeil; dbSNP:rs28934004). {ECO:0000269|PubMed:1679439}.|R -> L (in EL2). {ECO:0000269|PubMed:1679439}.|R -> S (in EL2; dbSNP:rs28934005). {ECO:0000269|PubMed:1679439, ECO:0000269|PubMed:1878597}.		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)					CACTTCCTGACGCCTCTCCTG	0.458													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18097	0.0		0.0	False		,,,				2504	0.0					uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	GRCh37	CM900201|CM910357	SPTA1	M	rs121918641	c.(82-84)cGt>cAt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							145.0	145.0	145.0					1																	158655079		1912	4127	6039	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655079C>T	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.83G>A	1.37:g.158655079C>T	ENSP00000357129:p.Arg28His						p.R28H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			1	282	-	all_hematologic(112;0.0378)		28		R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.83G>A	CCDS41423.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	33	5.194717	0.94960	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	4.98	4.98	0.66077	.	0.000000	0.28790	N	0.014122	T	0.49712	0.1573	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.43572	-0.9383	10	0.15066	T	0.55	.	17.0071	0.86396	0.0:1.0:0.0:0.0	rs28934004	28	P02549	SPTA1_HUMAN	H	28	ENSP00000357130:R28H;ENSP00000357129:R28H	ENSP00000357129:R28H	R	-	2	0	SPTA1	156921703	1.000000	0.71417	0.358000	0.25811	0.995000	0.86356	7.059000	0.76684	2.594000	0.87642	0.467000	0.42956	CGT		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
LEFTY2	7044	broad.mit.edu	37	1	226127121	226127121	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:226127121G>A	ENST00000366820.5	-	3	1025	c.677C>T	c.(676-678)gCg>gTg	p.A226V	LEFTY2_ENST00000474493.1_5'Flank|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Missense_Mutation_p.A192V	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	226					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCGGCTGGCGCCCCCTGCGA	0.701																																					Colon(172;116 2643 9098 43333)	uc001hpt.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(676-678)gCg>gTg		Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.							11.0	13.0	12.0					1																	226127121		2194	4282	6476	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127121G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.677C>T	1.37:g.226127121G>A	ENSP00000355785:p.Ala226Val					LEFTY2_uc010pvk.2_Missense_Mutation_p.A192V|LEFTY2_uc009xek.2_Intron	p.A226V	NM_003240	NP_003231	O00292	LFTY2_HUMAN			2	920	-	Breast(184;0.197)		226					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.677C>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	9.141	1.013759	0.19277	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.68181	-0.11;-0.31	3.91	2.96	0.34315	.	0.527879	0.21087	N	0.080392	T	0.44871	0.1314	N	0.14661	0.345	0.09310	N	1	B;B	0.32543	0.375;0.375	B;B	0.22386	0.039;0.039	T	0.25363	-1.0134	10	0.36615	T	0.2	.	12.4016	0.55416	0.0:0.0:0.8299:0.1701	.	192;226	E9PDM4;O00292	.;LFTY2_HUMAN	V	192;226	ENSP00000388009:A192V;ENSP00000355785:A226V	ENSP00000355785:A226V	A	-	2	0	LEFTY2	224193744	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	1.364000	0.34171	0.732000	0.32470	0.561000	0.74099	GCG		0.701	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240	
RTKN2	219790	broad.mit.edu	37	10	63957757	63957757	+	Silent	SNP	G	G	T	rs186359235		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:63957757G>T	ENST00000373789.3	-	12	1836	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	580					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTCAAAATTGGTTTTAGTGT	0.448																																						uc001jlw.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1738-1740)acC>acA		Homo sapiens rhotekin 2 (RTKN2), mRNA.							84.0	80.0	81.0					10																	63957757		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957757G>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1740C>A	10.37:g.63957757G>T						RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.T234T	p.T580T	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			11	1837	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		580					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1740C>A	CCDS7263.1																																																																																				0.448	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
CHUK	1147	broad.mit.edu	37	10	101981868	101981868	+	Splice_Site	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:101981868C>T	ENST00000370397.7	-	4	472		c.e4+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGATACGTACCTATATCACT	0.313																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.e4+1		Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.							56.0	55.0	56.0					10																	101981868		2199	4295	6494	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101981868C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.385+1G>A	10.37:g.101981868C>T							p.G129_splice	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	4	440	-		Colorectal(252;0.117)	129			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37	c.385_splice	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692399	0.88735	.	.	ENSG00000213341	ENST00000370397	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHUK	101971858	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.183000	0.77697	2.885000	0.99019	0.655000	0.94253	.		0.313	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	Intron
LGR4	55366	broad.mit.edu	37	11	27390538	27390538	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:27390538C>T	ENST00000379214.4	-	18	2175	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	LGR4_ENST00000389858.4_Missense_Mutation_p.G554S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	578					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GAAATCAAGCCTATAAACAAT	0.378																																						uc001mrj.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1732-1734)Ggc>Agc		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.							82.0	82.0	82.0					11																	27390538		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390538C>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1732G>A	11.37:g.27390538C>T	ENSP00000368516:p.Gly578Ser					LGR4_uc001mrk.4_Missense_Mutation_p.G554S	p.G578S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			17	2217	-			578					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.1732G>A	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605946	0.66445	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.85339	-1.97;-1.97	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.049395	0.85682	D	0.000000	D	0.86431	0.5931	L	0.57536	1.79	0.80722	D	1	P;P	0.52061	0.95;0.568	P;B	0.50860	0.652;0.229	D	0.83400	0.0022	10	0.23302	T	0.38	.	15.364	0.74507	0.0:0.9318:0.0:0.0682	.	554;578	G5E9B3;Q9BXB1	.;LGR4_HUMAN	S	578;554	ENSP00000368516:G578S;ENSP00000374508:G554S	ENSP00000368516:G578S	G	-	1	0	LGR4	27347114	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.095000	0.71439	2.797000	0.96272	0.650000	0.86243	GGC		0.378	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
HARBI1	283254	broad.mit.edu	37	11	46637480	46637480	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:46637480C>T	ENST00000326737.3	-	2	555	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	ATG13_ENST00000526508.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000451945.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	103						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATTGGCAACACAACGACTCAT	0.488																																						uc001ncy.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(307-309)tGt>tAt		Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.							141.0	138.0	139.0					11																	46637480		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46637480C>T	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.308G>A	11.37:g.46637480C>T	ENSP00000317743:p.Cys103Tyr					ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	p.C103Y	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN			1	556	-			103					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.308G>A	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766166	0.49574	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.26	3.37	0.38596	.	0.040820	0.85682	N	0.000000	T	0.58680	0.2139	M	0.79926	2.475	0.80722	D	1	B	0.33345	0.409	B	0.27715	0.082	T	0.58132	-0.7690	9	0.23891	T	0.37	-17.7386	11.8158	0.52209	0.0:0.8551:0.0:0.1449	.	103	Q96MB7	HARB1_HUMAN	Y	103	.	ENSP00000317743:C103Y	C	-	2	0	HARBI1	46594056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.742000	0.68646	1.226000	0.43582	0.655000	0.94253	TGT		0.488	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811	
VWF	7450	broad.mit.edu	37	12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:6091103C>T	ENST00000261405.5	-	42	7390	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2379					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612																																						uc001qnn.1																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(7135-7137)cGt>cAt		Homo sapiens von Willebrand factor (VWF), mRNA.	Antihemophilic Factor(DB00025)						89.0	75.0	80.0					12																	6091103		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091103C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7136G>A	12.37:g.6091103C>T	ENSP00000261405:p.Arg2379His					VWF_uc010set.1_Intron	p.R2379H	NM_000552	NP_000543	P04275	VWF_HUMAN			41	7386	-			2379					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7136G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382894	0.61845	.	.	ENSG00000110799	ENST00000261405	T	0.36340	1.26	4.98	4.1	0.47936	.	0.000000	0.37437	N	0.002093	T	0.52549	0.1741	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	P	0.55455	0.776	T	0.58364	-0.7649	10	0.72032	D	0.01	.	8.8256	0.35052	0.0:0.8321:0.0:0.1679	.	2379	P04275	VWF_HUMAN	H	2379	ENSP00000261405:R2379H	ENSP00000261405:R2379H	R	-	2	0	VWF	5961364	0.998000	0.40836	0.869000	0.34112	0.284000	0.27059	3.960000	0.56752	1.326000	0.45319	0.555000	0.69702	CGT		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
KRT3	3850	broad.mit.edu	37	12	53185580	53185580	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:53185580C>T	ENST00000417996.2	-	6	1283	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	KRT3_ENST00000309505.3_Silent_p.T403T	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	403	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCCAGCCGTGGTCTGCA	0.527																																						uc001say.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1207-1209)acG>acA		Homo sapiens keratin 3 (KRT3), mRNA.							73.0	72.0	72.0					12																	53185580		2203	4300	6503	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185580C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1209G>A	12.37:g.53185580C>T							p.T403T	NM_057088	NP_476429	P12035	K2C3_HUMAN			5	1275	-			403			Coil 2.|Rod.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.1209G>A	CCDS44895.1																																																																																				0.527	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
OR6C4	341418	broad.mit.edu	37	12	55945614	55945614	+	Missense_Mutation	SNP	G	G	A	rs375998098	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:55945614G>A	ENST00000394256.2	+	1	632	c.604G>A	c.(604-606)Gtt>Att	p.V202I	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTCTTGGCCGTTGTGACTCT	0.483													G|||	4	0.000798722	0.0	0.0	5008	,	,		21643	0.0		0.0	False		,,,				2504	0.0041					uc010spp.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(604-606)Gtt>Att		Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.							161.0	136.0	144.0					12																	55945614		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945614G>A	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.604G>A	12.37:g.55945614G>A	ENSP00000377799:p.Val202Ile						p.V202I	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			0	604	+			202					A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.604G>A	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236702	0.05944	.	.	ENSG00000179626	ENST00000394256	T	0.37584	1.19	4.98	0.942	0.19525	GPCR, rhodopsin-like superfamily (1);	0.903729	0.09142	N	0.842780	T	0.20333	0.0489	N	0.17564	0.495	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.25710	-1.0124	10	0.41790	T	0.15	.	3.6982	0.08372	0.3561:0.0:0.4794:0.1645	.	202	Q8NGE1	OR6C4_HUMAN	I	202	ENSP00000377799:V202I	ENSP00000377799:V202I	V	+	1	0	OR6C4	54231881	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.655000	0.05348	0.066000	0.16515	0.655000	0.94253	GTT		0.483	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1		
GLIPR1	11010	broad.mit.edu	37	12	75874782	75874782	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:75874782A>G	ENST00000266659.3	+	1	323	c.122A>G	c.(121-123)cAt>cGt	p.H41R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	41	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GTTCGAATCCATAACAAGTTC	0.378																																						uc001sxs.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(121-123)cAt>cGt		Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.							97.0	92.0	94.0					12																	75874782		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75874782A>G	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.122A>G	12.37:g.75874782A>G	ENSP00000266659:p.His41Arg					GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R	p.H41R	NM_006851	NP_006842	P48060	GLIP1_HUMAN			0	270	+			41					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.122A>G	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292060	0.80914	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.60299	0.2;0.2	6.03	6.03	0.97812	CAP domain (3);	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92681	0.6158	10	0.87932	D	0	.	15.1366	0.72572	1.0:0.0:0.0:0.0	.	41;41	F6VVE8;P48060	.;GLIP1_HUMAN	R	41	ENSP00000266659:H41R;ENSP00000391144:H41R	ENSP00000266659:H41R	H	+	2	0	GLIPR1	74161049	1.000000	0.71417	0.307000	0.25127	0.808000	0.45660	7.131000	0.77243	2.302000	0.77476	0.533000	0.62120	CAT		0.378	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851	
MGAT4C	25834	broad.mit.edu	37	12	86373908	86373908	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:86373908C>T	ENST00000604798.1	-	8	1800	c.596G>A	c.(595-597)cGt>cAt	p.R199H	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	199					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338																																						uc010sum.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(667-669)cGt>cAt		Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.							101.0	103.0	102.0					12																	86373908		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373908C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.596G>A	12.37:g.86373908C>T	ENSP00000474896:p.Arg199His					MGAT4C_uc001tal.4_Missense_Mutation_p.R199H|MGAT4C_uc001taj.4_Missense_Mutation_p.R199H|MGAT4C_uc001tak.4_Missense_Mutation_p.R199H|MGAT4C_uc001tai.4_Missense_Mutation_p.R199H|MGAT4C_uc001tah.4_Missense_Mutation_p.R199H	p.R223H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			5	827	-			199					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.668G>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823647	0.50739	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.49	5.49	0.81192	.	0.122041	0.53938	D	0.000057	T	0.75042	0.3796	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76578	-0.2908	10	0.62326	D	0.03	-22.3009	19.7507	0.96267	0.0:1.0:0.0:0.0	.	228;199	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	199;228;199;199;199;199;199	ENSP00000331664:R199H;ENSP00000376900:R228H;ENSP00000449022:R199H;ENSP00000446647:R199H;ENSP00000447253:R199H;ENSP00000449172:R199H	ENSP00000331664:R199H	R	-	2	0	MGAT4C	84898039	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	6.081000	0.71309	2.722000	0.93159	0.655000	0.94253	CGT		0.338	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
UHRF1BP1L	23074	broad.mit.edu	37	12	100453163	100453163	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:100453163T>C	ENST00000279907.7	-	14	2104	c.1892A>G	c.(1891-1893)aAa>aGa	p.K631R	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.K281R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	631										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCACAATCTTTAAAGTCTTG	0.353																																						uc001tgq.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1891-1893)aAa>aGa		Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.							43.0	48.0	46.0					12																	100453163		2202	4295	6497	SO:0001583	missense	23074							g.chr12:100453163T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1892A>G	12.37:g.100453163T>C	ENSP00000279907:p.Lys631Arg					UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.K281R	p.K631R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			13	2121	-			631					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1892A>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308498	0.60305	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10382	2.88;2.88	5.56	5.56	0.83823	.	0.048278	0.85682	D	0.000000	T	0.19685	0.0473	L	0.56769	1.78	0.80722	D	1	P	0.51449	0.945	P	0.49752	0.621	T	0.01001	-1.1485	10	0.32370	T	0.25	-18.1773	15.7156	0.77667	0.0:0.0:0.0:1.0	.	631	A0JNW5	UH1BL_HUMAN	R	631;281	ENSP00000279907:K631R;ENSP00000444824:K281R	ENSP00000279907:K631R	K	-	2	0	UHRF1BP1L	98977294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.051000	0.71072	2.121000	0.65114	0.528000	0.53228	AAA		0.353	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
SBNO1	55206	broad.mit.edu	37	12	123794339	123794339	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:123794339C>T	ENST00000602398.1	-	26	3487	c.3360G>A	c.(3358-3360)gcG>gcA	p.A1120A	SBNO1_ENST00000267176.4_Silent_p.A1119A|SBNO1_ENST00000420886.2_Silent_p.A1120A|SBNO1_ENST00000602750.1_Silent_p.A1119A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1120					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTGAAATAACGCATTCTGCT	0.328																																						uc010tap.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3358-3360)gcG>gcA		Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.							156.0	157.0	157.0					12																	123794339		2203	4300	6503	SO:0001819	synonymous_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794339C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3360G>A	12.37:g.123794339C>T						SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1119A|SBNO1_uc010taq.2_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A	p.A1120A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	24	3360	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1120					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	ENST00000602398.1	37	c.3360G>A	CCDS53844.1																																																																																				0.328	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					uc001uja.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gagaag>gag		Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	p.K853del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN			15	2686_2688	+			853			Arg/Ser-rich (RS domain).|Poly-Lys.		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
CDADC1	81602	broad.mit.edu	37	13	49865831	49865831	+	Silent	SNP	A	A	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:49865831A>C	ENST00000251108.6	+	10	1596	c.1483A>C	c.(1483-1485)Aga>Cga	p.R495R	CDADC1_ENST00000444959.1_Silent_p.R297R	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	495							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGGTGTGTTGAGACCTGTCCC	0.488																																						uc001vcu.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(1483-1485)Aga>Cga		Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.							170.0	157.0	161.0					13																	49865831		2203	4300	6503	SO:0001819	synonymous_variant	81602						hydrolase activity|zinc ion binding	g.chr13:49865831A>C	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1483A>C	13.37:g.49865831A>C						CDADC1_uc021rjm.1_Intron|CDADC1_uc010tgk.2_Silent_p.R297R|CDADC1_uc001vcv.3_Non-coding_Transcript	p.R495R	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	9	1610	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	495					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	37	c.1483A>C	CCDS9415.1																																																																																				0.488	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	
METTL21C	196541	broad.mit.edu	37	13	103343256	103343256	+	Silent	SNP	G	G	A	rs140891650		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:103343256G>A	ENST00000267273.6	-	2	194	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	63					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGTAGCTGGCGTAATCTGTAG	0.443																																						uc001vpj.3																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(187-189)taC>taT		Homo sapiens methyltransferase like 21C (METTL21C), mRNA.		G		0,4406		0,0,2203	161.0	145.0	151.0		189	-3.0	0.8	13	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	METTL21C	NM_001010977.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		63/265	103343256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	196541						methyltransferase activity	g.chr13:103343256G>A		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.189C>T	13.37:g.103343256G>A							p.Y63Y	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN			1	195	-			63						Silent	SNP	ENST00000267273.6	37	c.189C>T	CCDS32003.1																																																																																				0.443	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977	
OR4N2	390429	broad.mit.edu	37	14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:20295720T>C	ENST00000315947.1	+	1	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T	OR4N2_ENST00000568211.1_Missense_Mutation_p.I38T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438																																						uc010tkv.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(112-114)aTc>aCc		Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.							190.0	217.0	208.0					14																	20295720		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295720T>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.113T>C	14.37:g.20295720T>C	ENSP00000319601:p.Ile38Thr						p.I38T	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	113	+	all_cancers(95;0.00108)		38					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.113T>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.667650	0.00765	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00603	6.28;6.28	4.3	4.3	0.51218	.	0.133715	0.34411	N	0.003996	T	0.00178	0.0005	N	0.00175	-1.925	0.28934	N	0.891379	B	0.23058	0.079	B	0.22880	0.042	T	0.34477	-0.9827	10	0.02654	T	1	-20.2351	6.5645	0.22505	0.0:0.1081:0.0:0.8919	.	38	Q8NGD1	OR4N2_HUMAN	T	38	ENSP00000452022:I38T;ENSP00000319601:I38T	ENSP00000319601:I38T	I	+	2	0	OR4N2	19365560	0.000000	0.05858	1.000000	0.80357	0.548000	0.35241	0.219000	0.17641	1.922000	0.55676	0.482000	0.46254	ATC		0.438	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
RNASE11	122651	broad.mit.edu	37	14	21052495	21052495	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:21052495G>T	ENST00000610205.1	-	3	322	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	RNASE11_ENST00000555841.1_Missense_Mutation_p.Q47K|RNASE11_ENST00000398008.2_Missense_Mutation_p.Q47K|RNASE11_ENST00000398009.2_Missense_Mutation_p.Q47K|RNASE11_ENST00000432835.2_Missense_Mutation_p.Q47K|RNASE11_ENST00000553849.1_Missense_Mutation_p.Q47K	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	47						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCAATGGTCTGTTTTTCTTGG	0.378																																						uc010ahw.3																			0				endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(139-141)Cag>Aag		Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.							221.0	207.0	212.0					14																	21052495		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052495G>T	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.139C>A	14.37:g.21052495G>T	ENSP00000476537:p.Gln47Lys					RNASE11_uc010ahv.3_Missense_Mutation_p.Q47K|RNASE11_uc010ahx.3_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.3_Missense_Mutation_p.Q47K|RNASE11_uc021rnu.1_Missense_Mutation_p.Q47K	p.Q47K	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	475	-	all_cancers(95;0.00238)	all_lung(585;0.235)	47						Missense_Mutation	SNP	ENST00000610205.1	37	c.139C>A	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	3.446	-0.113084	0.06881	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.03;1.01;1.02	4.09	1.06	0.20224	.	1.988530	0.03080	N	0.158356	T	0.32194	0.0821	L	0.27053	0.805	0.09310	N	1	P	0.37061	0.58	B	0.35114	0.196	T	0.31971	-0.9924	10	0.59425	D	0.04	-14.6004	7.2774	0.26292	0.0:0.3576:0.4582:0.1842	.	47	Q8TAA1	RNS11_HUMAN	K	47	ENSP00000338288:Q47K;ENSP00000451318:Q47K;ENSP00000451563:Q47K;ENSP00000381093:Q47K;ENSP00000381092:Q47K;ENSP00000395210:Q47K;ENSP00000401398:Q47K;ENSP00000451839:Q47K;ENSP00000452412:Q47K;ENSP00000415954:Q47K;ENSP00000451466:Q47K	ENSP00000338288:Q47K	Q	-	1	0	RNASE11	20122335	0.009000	0.17119	0.002000	0.10522	0.005000	0.04900	0.391000	0.20784	0.234000	0.21139	-0.428000	0.05917	CAG		0.378	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250	
ARID4A	5926	broad.mit.edu	37	14	58831848	58831848	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:58831848A>G	ENST00000355431.3	+	20	3414	c.3041A>G	c.(3040-3042)gAt>gGt	p.D1014G	ARID4A_ENST00000348476.3_Missense_Mutation_p.D1014G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D1014G|ARID4A_ENST00000431317.2_Missense_Mutation_p.D1014G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1014					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTAGTCAAGATGAGTCTCGA	0.413																																						uc001xdp.3																			0		p.Q1013K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3040-3042)gAt>gGt		Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.							134.0	129.0	131.0					14																	58831848		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831848A>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3041A>G	14.37:g.58831848A>G	ENSP00000347602:p.Asp1014Gly					ARID4A_uc001xdo.3_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.3_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G	p.D1014G	NM_002892	NP_002883	P29374	ARI4A_HUMAN			19	3295	+			1014					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.3041A>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153348	0.78114	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.19806	2.43;2.3;2.28;2.3;2.12	5.68	5.68	0.88126	.	0.467083	0.25332	N	0.031437	T	0.35998	0.0951	L	0.50333	1.59	0.58432	D	0.999999	D;P;P	0.55385	0.971;0.914;0.787	P;P;B	0.55749	0.783;0.516;0.42	T	0.07347	-1.0777	10	0.87932	D	0	-23.3127	15.9333	0.79683	1.0:0.0:0.0:0.0	.	1014;1014;1014	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	1014;1014;1014;1014;692	ENSP00000347602:D1014G;ENSP00000344556:D1014G;ENSP00000378597:D1014G;ENSP00000397368:D1014G;ENSP00000416053:D692G	ENSP00000344556:D1014G	D	+	2	0	ARID4A	57901601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.803000	0.85983	2.170000	0.68504	0.455000	0.32223	GAT		0.413	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
AHNAK2	113146	broad.mit.edu	37	14	105408457	105408457	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:105408457C>T	ENST00000333244.5	-	7	13450	c.13331G>A	c.(13330-13332)cGg>cAg	p.R4444Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4444						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTCCAGCCGCGTACTGTC	0.587																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13330-13332)cGg>cAg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							149.0	157.0	155.0					14																	105408457		2020	4165	6185	SO:0001583	missense	113146					nucleus		g.chr14:105408457C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13331G>A	14.37:g.105408457C>T	ENSP00000353114:p.Arg4444Gln					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	p.R4444Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	13451	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4444					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13331G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	1.983	-0.433764	0.04669	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	2.13	0.913	0.19354	.	3.092860	0.04267	U	0.341422	T	0.00724	0.0024	N	0.20401	0.57	0.09310	N	1	B	0.30326	0.276	B	0.21360	0.034	T	0.48151	-0.9060	10	0.13853	T	0.58	.	3.7561	0.08586	0.0:0.2302:0.0:0.7698	.	4444	Q8IVF2	AHNK2_HUMAN	Q	4444	ENSP00000353114:R4444Q	ENSP00000353114:R4444Q	R	-	2	0	AHNAK2	104479502	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.878000	0.28126	-0.220000	0.09988	0.194000	0.17425	CGG		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
PLCB2	5330	broad.mit.edu	37	15	40583002	40583002	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:40583002G>C	ENST00000260402.3	-	28	3322	c.3073C>G	c.(3073-3075)Cag>Gag	p.Q1025E	PLCB2_ENST00000456256.2_Missense_Mutation_p.Q1010E|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q1021E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1025					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGCCGCCTGTTTCTCTCTG	0.587																																						uc001zld.3																			0		p.E1024D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(3073-3075)Cag>Gag		Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.							55.0	61.0	59.0					15																	40583002		1985	4160	6145	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40583002G>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3073C>G	15.37:g.40583002G>C	ENSP00000260402:p.Gln1025Glu					PLCB2_uc001zlc.3_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.3_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.2_Missense_Mutation_p.Q1010E	p.Q1025E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	27	3374	-		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)	1025					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.3073C>G	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871973	0.91587	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.57752	0.38;0.38	4.42	4.42	0.53409	PLC-beta, C-terminal (1);	0.837345	0.10659	N	0.648911	T	0.60392	0.2265	L	0.54323	1.7	0.80722	D	1	P;P;B	0.45283	0.656;0.855;0.36	B;P;B	0.47626	0.23;0.552;0.111	T	0.64305	-0.6439	10	0.87932	D	0	.	17.2213	0.86958	0.0:0.0:1.0:0.0	.	1010;1021;1025	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	E	1025;1010	ENSP00000260402:Q1025E;ENSP00000411991:Q1010E	ENSP00000260402:Q1025E	Q	-	1	0	PLCB2	38370294	1.000000	0.71417	0.916000	0.36221	0.961000	0.63080	5.462000	0.66707	2.246000	0.74042	0.561000	0.74099	CAG		0.587	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
VPS39	23339	broad.mit.edu	37	15	42457929	42457929	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:42457929G>A	ENST00000348544.4	-	18	1798	c.1799C>T	c.(1798-1800)gCt>gTt	p.A600V	VPS39_ENST00000318006.5_Missense_Mutation_p.A589V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	600					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAAGGAATAGCCAGACCCTT	0.443																																						uc001zpd.3																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1798-1800)gCt>gTt		Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.							91.0	94.0	93.0					15																	42457929		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457929G>A	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1799C>T	15.37:g.42457929G>A	ENSP00000335193:p.Ala600Val					VPS39_uc001zpc.3_Missense_Mutation_p.A589V|VPS39_uc001zpb.3_5'UTR	p.A600V	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	17	1950	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	600					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.1799C>T	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783835	0.16189	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.46063	0.88;0.88	5.51	5.51	0.81932	.	0.051516	0.85682	D	0.000000	T	0.28333	0.0700	N	0.17674	0.51	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.17623	-1.0363	10	0.02654	T	1	-9.1887	19.4269	0.94746	0.0:0.0:1.0:0.0	.	600;589	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	V	589;600	ENSP00000326534:A589V;ENSP00000335193:A600V	ENSP00000326534:A589V	A	-	2	0	VPS39	40245221	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	6.645000	0.74343	2.595000	0.87683	0.655000	0.94253	GCT		0.443	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289	
SLC27A2	11001	broad.mit.edu	37	15	50518260	50518260	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:50518260G>A	ENST00000267842.5	+	6	1475	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	SLC27A2_ENST00000544960.1_Missense_Mutation_p.V180I|SLC27A2_ENST00000380902.4_Missense_Mutation_p.V362I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	415					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V415L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGATATTGCGTCAGAGTTCC	0.353																																						uc001zxw.3																			1	Substitution - Missense(1)	p.V415L(2)	breast(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1243-1245)Gtc>Atc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.							94.0	88.0	90.0					15																	50518260		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50518260G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1243G>A	15.37:g.50518260G>A	ENSP00000267842:p.Val415Ile					SLC27A2_uc010bes.3_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V180I	p.V415I	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	5	1475	+		all_lung(180;0.00177)	415					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1243G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	1.951	-0.441267	0.04604	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;D	0.82433	0.41;0.22;-1.61	5.53	0.5	0.16919	AMP-dependent synthetase/ligase (1);	0.290092	0.36703	N	0.002459	T	0.53594	0.1806	N	0.01742	-0.745	0.24548	N	0.994037	B;B	0.09022	0.0;0.002	B;B	0.10450	0.002;0.005	T	0.48864	-0.8997	10	0.02654	T	1	.	10.6242	0.45497	0.8478:0.0:0.1522:0.0	.	362;415	Q6PF09;O14975	.;S27A2_HUMAN	I	362;415;180	ENSP00000370289:V362I;ENSP00000267842:V415I;ENSP00000444549:V180I	ENSP00000267842:V415I	V	+	1	0	SLC27A2	48305552	0.969000	0.33509	0.999000	0.59377	0.813000	0.45954	0.436000	0.21526	0.041000	0.15688	-1.417000	0.01113	GTC		0.353	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
ACAN	176	broad.mit.edu	37	15	89395102	89395102	+	Missense_Mutation	SNP	G	G	A	rs370096577		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:89395102G>A	ENST00000561243.1	+	10	2104	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	ACAN_ENST00000439576.2_Missense_Mutation_p.V702M|ACAN_ENST00000559004.1_Missense_Mutation_p.V702M|ACAN_ENST00000352105.7_Missense_Mutation_p.V702M			P16112	PGCA_HUMAN	aggrecan	701	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGTGGATCGTGACCCAAGT	0.567																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(2104-2106)Gtg>Atg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.		G	MET/VAL,MET/VAL	0,4154		0,0,2077	52.0	67.0	62.0		2104,2104	-0.1	0.0	15		62	1,8389		0,1,4194	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	21,21	0,1,6271	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	702/2432,702/2531	89395102	1,12543	2077	4195	6272	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89395102G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2104G>A	15.37:g.89395102G>A	ENSP00000453342:p.Val702Met					ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_Non-coding_Transcript	p.V702M	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		10	2478	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		702					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2104G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077002	0.36662	0.0	1.19E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.10860	2.83;2.83	5.41	-0.136	0.13473	.	1.184840	0.06813	N	0.790679	T	0.10035	0.0246	L	0.50333	1.59	0.09310	N	1	P;P	0.46859	0.885;0.885	B;B	0.36666	0.23;0.23	T	0.37244	-0.9714	10	0.66056	D	0.02	0.0039	7.5258	0.27653	0.2974:0.1236:0.579:0.0	.	702;702	E7ENV9;E7EX88	.;.	M	702	ENSP00000387356:V702M;ENSP00000341615:V702M	ENSP00000268134:V702M	V	+	1	0	ACAN	87196106	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.265000	0.08644	0.263000	0.21812	0.511000	0.50034	GTG		0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:9858195G>A	ENST00000396573.2	-	14	3515	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1069					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T1069M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGTGGCACGTGGCCCGATT	0.502																																						uc010uym.2																			1	Substitution - Missense(1)	p.T1069M(2)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3205-3207)aCg>aTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	121.0	124.0					16																	9858195		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858195G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3206C>T	16.37:g.9858195G>A	ENSP00000379818:p.Thr1069Met					GRIN2A_uc002czo.4_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T912M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1069M	p.T1069M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	3516	-			1069					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3206C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591479	0.46214	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.7;2.68;2.69;2.7;2.7	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.198738	0.53938	D	0.000051	T	0.30198	0.0757	L	0.57536	1.79	0.52099	D	0.99994	P;P;D	0.65815	0.937;0.949;0.995	P;P;P	0.58077	0.666;0.775;0.832	T	0.00559	-1.1671	9	.	.	.	.	18.0262	0.89270	0.0:0.0:1.0:0.0	.	912;1069;1069	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	1069;1069;912;1069;1069	ENSP00000379818:T1069M;ENSP00000385872:T1069M;ENSP00000441572:T912M;ENSP00000332549:T1069M;ENSP00000379820:T1069M	.	T	-	2	0	GRIN2A	9765696	1.000000	0.71417	0.957000	0.39632	0.405000	0.30901	7.396000	0.79891	2.491000	0.84063	0.655000	0.94253	ACG		0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
IL4R	3566	broad.mit.edu	37	16	27373745	27373745	+	Missense_Mutation	SNP	G	G	A	rs372264723		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:27373745G>A	ENST00000395762.2	+	11	1331	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	IL4R_ENST00000543915.2_Missense_Mutation_p.V358M|IL4R_ENST00000380922.3_Missense_Mutation_p.V343M|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.V358M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	358					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGCATCAGCGTGGTGCGATG	0.562																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1072-1074)Gtg>Atg		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.		G	MET/VAL	0,4394		0,0,2197	105.0	96.0	99.0		1072	4.2	0.8	16		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL4R	NM_000418.2	21	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	358/826	27373745	1,12993	2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373745G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1072G>A	16.37:g.27373745G>A	ENSP00000379111:p.Val358Met					IL4R_uc002dop.4_Missense_Mutation_p.V343M|IL4R_uc010bxy.3_Missense_Mutation_p.V358M|IL4R_uc002doo.3_Missense_Mutation_p.V198M	p.V358M	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	1314	+			358					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1072G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079676	0.55753	0.0	1.16E-4	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.14	4.18	0.49190	.	.	.	.	.	T	0.43211	0.1237	M	0.66939	2.045	0.31662	N	0.645394	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.52525	-0.8564	9	0.87932	D	0	-24.2785	11.1726	0.48579	0.0:0.0:0.8164:0.1836	.	343;358;358	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	M	358;358;343;358	ENSP00000379111:V358M;ENSP00000441667:V358M;ENSP00000370309:V343M;ENSP00000170630:V358M	ENSP00000170630:V358M	V	+	1	0	IL4R	27281246	0.990000	0.36364	0.822000	0.32727	0.531000	0.34715	2.008000	0.40893	1.159000	0.42565	0.655000	0.94253	GTG		0.562	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
CDH8	1006	broad.mit.edu	37	16	61687974	61687974	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:61687974C>T	ENST00000577390.1	-	12	2892	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	CDH8_ENST00000299345.6_Silent_p.R646R|CDH8_ENST00000577730.1_Silent_p.R646R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388																																						uc002eog.2																			0		p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cgG>cgA		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							65.0	64.0	64.0					16																	61687974		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687974C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1938G>A	16.37:g.61687974C>T							p.R646R	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2893	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1938G>A	CCDS10802.1																																																																																				0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
VPS9D1	9605	broad.mit.edu	37	16	89782935	89782935	+	Silent	SNP	G	G	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:89782935G>C	ENST00000389386.3	-	4	490	c.366C>G	c.(364-366)ctC>ctG	p.L122L	VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Silent_p.L52L	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	122					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GAAAAGGAGAGAGCTTTCCTC	0.567																																						uc002fom.1																			0				breast(1)|lung(3)|ovary(1)	5						c.(364-366)ctC>ctG		Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.							166.0	185.0	179.0					16																	89782935		1978	4167	6145	SO:0001819	synonymous_variant	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89782935G>C	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.366C>G	16.37:g.89782935G>C						C16orf7_uc002fol.1_Silent_p.L52L|LOC100128881_uc002fon.1_Non-coding_Transcript|LOC100128881_uc002foo.1_5'Flank	p.L122L	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	491	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	122						Silent	SNP	ENST00000389386.3	37	c.366C>G	CCDS42220.1																																																																																				0.567	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1	NM_004913	
PRPF8	10594	broad.mit.edu	37	17	1577046	1577046	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:1577046A>G	ENST00000572621.1	-	21	3705	c.3440T>C	c.(3439-3441)gTt>gCt	p.V1147A	PRPF8_ENST00000304992.6_Missense_Mutation_p.V1147A			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1147	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACAAGTTAACATCATGTTT	0.537																																						uc002fte.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3439-3441)gTt>gCt		Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.							129.0	121.0	124.0					17																	1577046		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577046A>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3440T>C	17.37:g.1577046A>G	ENSP00000460348:p.Val1147Ala						p.V1147A	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3554	-			1147					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3440T>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612731	0.87258	.	.	ENSG00000174231	ENST00000304992	D	0.84873	-1.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95842	0.8867	10	0.87932	D	0	.	15.4777	0.75497	1.0:0.0:0.0:0.0	.	1147	Q6P2Q9	PRP8_HUMAN	A	1147	ENSP00000304350:V1147A	ENSP00000304350:V1147A	V	-	2	0	PRPF8	1523796	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.108000	0.94275	2.240000	0.73641	0.477000	0.44152	GTT		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
SPDYE4	388333	broad.mit.edu	37	17	8658859	8658859	+	Missense_Mutation	SNP	C	C	T	rs201318763		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:8658859C>T	ENST00000328794.6	-	4	640	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	155										breast(1)|endometrium(2)|kidney(1)	4						GAAATGAATGCGTTGGTATTG	0.493																																						uc010cnz.1																			0				breast(1)|endometrium(2)|kidney(1)	4						c.(463-465)cGc>cAc		Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.							109.0	95.0	99.0					17																	8658859		692	1591	2283	SO:0001583	missense	388333							g.chr17:8658859C>T	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.464G>A	17.37:g.8658859C>T	ENSP00000329522:p.Arg155His						p.R155H	NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN			3	641	-			155					B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	c.464G>A	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	C	5.188	0.220224	0.09863	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.86	0.736	0.18307	.	0.600414	0.14244	N	0.331902	T	0.52403	0.1732	L	0.60957	1.885	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.34527	-0.9825	9	0.44086	T	0.13	.	5.0539	0.14522	0.0:0.692:0.0:0.308	.	155	A6NLX3	SPDE4_HUMAN	H	155	.	ENSP00000329522:R155H	R	-	2	0	SPDYE4	8599584	0.012000	0.17670	0.002000	0.10522	0.007000	0.05969	-0.013000	0.12678	0.084000	0.17077	-0.474000	0.04947	CGC		0.493	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076	
MYH4	4622	broad.mit.edu	37	17	10369590	10369590	+	Splice_Site	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:10369590G>A	ENST00000255381.2	-	4	458	c.348C>T	c.(346-348)taC>taT	p.Y116Y	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	116	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTGCTCACGTAGATCATCC	0.433																																						uc002gmn.3																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.e4+1		Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.							252.0	206.0	221.0					17																	10369590		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369590G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1C>T	17.37:g.10369590G>A						AK097500_uc002gml.1_Intron	p.Y116_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			4	459	-			116			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.348_splice	CCDS11154.1																																																																																				0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Silent
ASIC2	40	broad.mit.edu	37	17	31351022	31351022	+	Silent	SNP	C	C	T	rs544368158		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:31351022C>T	ENST00000359872.6	-	6	1814	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Silent_p.A402A	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	351					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.A402A(2)|p.A351A(2)								Amiloride(DB00594)	TGTCCTTTTCCGCCAACAGAC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18103	0.0		0.0	False		,,,				2504	0.0					uc002hht.3																			4	Substitution - coding silent(4)	p.A402A(2)|p.A351A(2)	upper_aerodigestive_tract(2)|breast(2)								c.(1204-1206)gcG>gcA		Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	Amiloride(DB00594)						125.0	112.0	116.0					17																	31351022		2203	4300	6503	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31351022C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1053G>A	17.37:g.31351022C>T						ASIC2_uc002hhu.3_Silent_p.A351A	p.A402A	NM_183377	NP_899233	Q16515	ACCN1_HUMAN			5	2079	-			351					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.1206G>A	CCDS42296.1																																																																																				0.532	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
C17orf53	78995	broad.mit.edu	37	17	42225478	42225478	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:42225478C>T	ENST00000319977.4	+	3	544	c.307C>T	c.(307-309)Cct>Tct	p.P103S	C17orf53_ENST00000245382.6_Missense_Mutation_p.P103S|C17orf53_ENST00000585683.1_Missense_Mutation_p.P103S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	103										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTAAGGCCTGTCTCTAC	0.577																																						uc002ifi.2																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(307-309)Cct>Tct		Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.							92.0	88.0	89.0					17																	42225478		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225478C>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.307C>T	17.37:g.42225478C>T	ENSP00000313500:p.Pro103Ser					C17orf53_uc010czq.2_Missense_Mutation_p.P103S|C17orf53_uc002ifj.2_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_Non-coding_Transcript	p.P103S	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	2	544	+		Breast(137;0.0364)|Prostate(33;0.0376)	103					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.307C>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074782	0.55646	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.52754	0.65;0.65	5.28	4.32	0.51571	.	0.117452	0.39274	N	0.001406	T	0.60261	0.2255	L	0.58101	1.795	0.09310	N	1	D;P;D	0.89917	1.0;0.886;0.999	D;B;D	0.91635	0.999;0.381;0.974	T	0.51779	-0.8662	10	0.66056	D	0.02	-11.7434	7.3656	0.26770	0.0:0.7429:0.1688:0.0883	.	103;103;103	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	S	103	ENSP00000313500:P103S;ENSP00000245382:P103S	ENSP00000245382:P103S	P	+	1	0	C17orf53	39581004	0.201000	0.23410	0.097000	0.21041	0.103000	0.19146	2.245000	0.43133	1.464000	0.47987	0.561000	0.74099	CCT		0.577	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032	
CTDP1	9150	broad.mit.edu	37	18	77513692	77513692	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr18:77513692G>A	ENST00000299543.7	+	13	2935	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	930					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCGCCAGCGAGTCCAGCAG	0.617																																						uc002lnh.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2788-2790)Gag>Aag		Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.							48.0	49.0	49.0					18																	77513692		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77513692G>A	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2788G>A	18.37:g.77513692G>A	ENSP00000299543:p.Glu930Lys					CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Missense_Mutation_p.E811K	p.E930K	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	12	2935	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	930					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2788G>A	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844939	0.91197	.	.	ENSG00000060069	ENST00000299543	T	0.58506	0.33	5.27	5.27	0.74061	FCP1-like phosphatase, C-terminal (1);	0.371380	0.29486	N	0.012005	T	0.64271	0.2583	L	0.60455	1.87	0.80722	D	1	D	0.57571	0.98	P	0.51385	0.668	T	0.59804	-0.7385	10	0.19590	T	0.45	-10.6556	18.8831	0.92364	0.0:0.0:1.0:0.0	.	930	Q9Y5B0	CTDP1_HUMAN	K	930	ENSP00000299543:E930K	ENSP00000299543:E930K	E	+	1	0	CTDP1	75614680	1.000000	0.71417	0.612000	0.29024	0.835000	0.47333	5.892000	0.69790	2.454000	0.82982	0.655000	0.94253	GAG		0.617	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	
MATK	4145	broad.mit.edu	37	19	3783948	3783948	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:3783948G>T	ENST00000310132.6	-	6	844	c.446C>A	c.(445-447)tCc>tAc	p.S149Y	MATK_ENST00000585778.1_Missense_Mutation_p.S149Y|MATK_ENST00000395045.2_Missense_Mutation_p.S150Y|MATK_ENST00000395040.2_Missense_Mutation_p.S108Y	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	149	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCGCGGACTCCCGCAC	0.682																																						uc002lyt.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(445-447)tCc>tAc		Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.							28.0	26.0	27.0					19																	3783948		2202	4295	6497	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783948G>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.446C>A	19.37:g.3783948G>T	ENSP00000308734:p.Ser149Tyr					MATK_uc002lyv.3_Missense_Mutation_p.S150Y|MATK_uc002lyu.3_Missense_Mutation_p.S108Y|MATK_uc010dtq.3_Missense_Mutation_p.S149Y	p.S149Y	NM_139355	NP_647611	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	846	-		Hepatocellular(1079;0.137)	149			SH2.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.446C>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	15.99	2.995381	0.54147	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.95103	-3.61;-3.61;-3.61	4.8	4.8	0.61643	SH2 motif (5);	0.146268	0.47455	D	0.000240	D	0.98469	0.9490	H	0.98682	4.3	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99853	1.1074	10	0.87932	D	0	-24.2917	16.8631	0.86023	0.0:0.0:1.0:0.0	.	149;150;149	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	Y	150;149;108	ENSP00000378485:S150Y;ENSP00000308734:S149Y;ENSP00000378481:S108Y	ENSP00000308734:S149Y	S	-	2	0	MATK	3734948	1.000000	0.71417	0.853000	0.33588	0.159000	0.22180	3.947000	0.56652	2.214000	0.71695	0.556000	0.70494	TCC		0.682	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355	
NCAN	1463	broad.mit.edu	37	19	19351446	19351446	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:19351446C>T	ENST00000252575.6	+	12	3543	c.3444C>T	c.(3442-3444)aaC>aaT	p.N1148N	NCAN_ENST00000538881.1_Silent_p.N599N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1148	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCGGCCTGAACGACAGGATCG	0.637																																						uc002nlz.3																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3442-3444)aaC>aaT		Homo sapiens neurocan (NCAN), mRNA.							151.0	106.0	121.0					19																	19351446		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19351446C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3444C>T	19.37:g.19351446C>T						NCAN_uc002nma.3_5'UTR	p.N1148N	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3543	+			1148			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3444C>T	CCDS12397.1																																																																																				0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
NR1H2	7376	broad.mit.edu	37	19	50882422	50882423	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:50882422_50882423insG	ENST00000253727.5	+	7	1146_1147	c.911_912insG	c.(910-915)aaggcafs	p.A305fs	NR1H2_ENST00000599105.1_Frame_Shift_Ins_p.A261fs|NR1H2_ENST00000411902.2_Frame_Shift_Ins_p.A208fs|NR1H2_ENST00000542413.1_Frame_Shift_Ins_p.A36fs|NR1H2_ENST00000593926.1_Frame_Shift_Ins_p.A305fs|NR1H2_ENST00000598168.1_Frame_Shift_Ins_p.A275fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	305	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCCTCCTGAAGGCATCCACTA	0.574																																						uc010enw.3																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(910-912)aagfs		Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.																																				SO:0001589	frameshift_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882422_50882423insG	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.913dupG	19.37:g.50882424_50882424dupG	ENSP00000253727:p.Ala305fs					NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.K207fs	p.K304fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	1380_1381	+		all_neural(266;0.057)	304			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Ins	INS	ENST00000253727.5	37	c.911_912insG	CCDS42593.1																																																																																				0.574	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2		
KIR3DL1	3811	broad.mit.edu	37	19	55284915	55284915	+	Intron	SNP	C	C	T	rs144426670	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:55284915C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Silent_p.N67N|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517																																						uc010erz.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(199-201)aaC>aaT		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.		C		1,4347		0,1,2173	97.0	85.0	89.0		201	-2.5	0.0	19	dbSNP_134	89	1,8377		0,1,4188	no	coding-synonymous	KIR2DL1	NM_014218.2		0,2,6361	TT,TC,CC		0.0119,0.023,0.0157		67/349	55284915	2,12724	2174	4189	6363	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284915C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44074C>T	19.37:g.55284915C>T						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.N67N	p.N67N	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	239	+			67			Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.201C>T																																																																																					0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
ZSCAN1	284312	broad.mit.edu	37	19	58565272	58565272	+	Silent	SNP	C	C	T	rs144381428		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:58565272C>T	ENST00000282326.1	+	6	1327	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	360					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662																																						uc002qrc.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1078-1080)tcC>tcT		Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.		C		0,4406		0,0,2203	32.0	34.0	33.0		1080	-0.0	0.0	19	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		360/409	58565272	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565272C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1080C>T	19.37:g.58565272C>T							p.S360S	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	5	1327	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	360					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.1080C>T	CCDS12969.1																																																																																				0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
KIDINS220	57498	broad.mit.edu	37	2	8943255	8943255	+	Silent	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:8943255A>G	ENST00000256707.3	-	8	787	c.606T>C	c.(604-606)aaT>aaC	p.N202N	KIDINS220_ENST00000319688.5_Silent_p.N203N|KIDINS220_ENST00000473731.1_Silent_p.N202N|KIDINS220_ENST00000427284.1_Silent_p.N202N|KIDINS220_ENST00000418530.1_Silent_p.N160N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	202					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCATTGAATTCTAAAAAC	0.299																																						uc002qzc.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(604-606)aaT>aaC		Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.							65.0	54.0	58.0					2																	8943255		1826	4079	5905	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8943255A>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.606T>C	2.37:g.8943255A>G						KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	p.N202N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			7	788	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		202					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.606T>C	CCDS42650.1																																																																																				0.299	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
IL18RAP	8807	broad.mit.edu	37	2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:103068411C>T	ENST00000264260.2	+	12	2159	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P382S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	524	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P524S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418																																						uc002tbx.3																			1	Substitution - Missense(1)	p.P524S(2)	urinary_tract(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1570-1572)Cct>Tct		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							114.0	120.0	118.0					2																	103068411		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068411C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1570C>T	2.37:g.103068411C>T	ENSP00000264260:p.Pro524Ser					IL18RAP_uc010fiz.3_Missense_Mutation_p.P382S	p.P524S	NM_003853	NP_003844	O95256	I18RA_HUMAN			11	2054	+			524			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1570C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724158	0.89298	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.09255	3.0;3.0	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.42426	0.1202	M	0.87180	2.865	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.26360	-1.0105	10	0.52906	T	0.07	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	524	O95256	I18RA_HUMAN	S	524;382	ENSP00000264260:P524S;ENSP00000387201:P382S	ENSP00000264260:P524S	P	+	1	0	IL18RAP	102434843	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.677000	0.68142	2.857000	0.98124	0.650000	0.86243	CCT		0.418	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:109292448C>T	ENST00000393310.1	+	6	776	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000544547.1_Silent_p.R215R|LIMS1_ENST00000409441.1_Silent_p.R240R|AC010095.5_ENST00000411710.1_RNA	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19736	0.0		0.0	False		,,,				2504	0.0					uc002teg.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(607-609)cgC>cgT		Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.							43.0	38.0	40.0					2																	109292448		2203	4300	6503	SO:0001819	synonymous_variant	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109292448C>T		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.609C>T	2.37:g.109292448C>T						LIMS1_uc002tel.3_Silent_p.R215R|LIMS1_uc002teh.3_Silent_p.R203R|LIMS1_uc002tei.3_Silent_p.R207R|LIMS1_uc002tej.3_Silent_p.R240R|LIMS1_uc002tek.4_Silent_p.R265R	p.R203R	NM_004987	NP_004978	P48059	LIMS1_HUMAN			5	738	+			203			LIM zinc-binding 4.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Silent	SNP	ENST00000393310.1	37	c.609C>T	CCDS2078.1																																																																																				0.537	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987	
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																						uc010yxx.1																			0											c.(382-384)Tag>Cag		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							2	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
DPP10	57628	broad.mit.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:116447456G>A	ENST00000410059.1	+	7	1015	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	DPP10_ENST00000310323.8_Missense_Mutation_p.V172I|DPP10_ENST00000393147.2_Missense_Mutation_p.V183I|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.V129I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	179						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(547-549)Gtc>Atc		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							84.0	91.0	89.0					2																	116447456		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116447456G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.535G>A	2.37:g.116447456G>A	ENSP00000386565:p.Val179Ile					DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	p.V183I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			6	568	+			179					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.547G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164856	0.38217	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	-2.02	0.07388	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.225321	0.36778	N	0.002414	T	0.22859	0.0552	L	0.55481	1.735	0.24648	N	0.993537	B;B;B;B	0.22800	0.027;0.075;0.034;0.034	B;B;B;B	0.20955	0.013;0.018;0.032;0.022	T	0.33650	-0.9860	10	0.15499	T	0.54	-12.1613	11.1686	0.48558	0.491:0.0:0.509:0.0	.	172;183;175;179	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	179;129;175;183;172;129	ENSP00000386565:V179I;ENSP00000387038:V129I;ENSP00000376854:V175I;ENSP00000376855:V183I;ENSP00000309066:V172I	ENSP00000309066:V172I	V	+	1	0	DPP10	116163926	0.323000	0.24643	0.908000	0.35775	0.965000	0.64279	0.668000	0.25127	-0.308000	0.08792	-0.237000	0.12165	GTC		0.438	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
CRYBB2	1415	broad.mit.edu	37	22	25627599	25627599	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr22:25627599C>T	ENST00000398215.2	+	6	649	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	160	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCCCGGCTACCGTGGGCTGCA	0.637																																						uc003abp.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(478-480)Cgt>Tgt		Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.							94.0	90.0	91.0					22																	25627599		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627599C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.478C>T	22.37:g.25627599C>T	ENSP00000381273:p.Arg160Cys						p.R160C	NM_000496	NP_000487	P43320	CRBB2_HUMAN			5	526	+			160			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.478C>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	12.50	1.956035	0.34471	.	.	ENSG00000244752	ENST00000398215	T	0.78707	-1.2	4.22	4.22	0.49857	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.051314	0.85682	D	0.000000	D	0.86952	0.6057	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	D	0.88456	0.3052	10	0.72032	D	0.01	.	10.7635	0.46279	0.3226:0.6774:0.0:0.0	.	160	P43320	CRBB2_HUMAN	C	160	ENSP00000381273:R160C	ENSP00000381273:R160C	R	+	1	0	CRYBB2	23957599	1.000000	0.71417	0.994000	0.49952	0.048000	0.14542	2.752000	0.47516	1.884000	0.54569	0.462000	0.41574	CGT		0.637	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496	
CYP8B1	1582	broad.mit.edu	37	3	42916850	42916850	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:42916850C>T	ENST00000316161.4	-	1	783	c.459G>A	c.(457-459)acG>acA	p.T153T	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Silent_p.T153T	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	153					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGCCTTTGGACGTCAGCATTA	0.512																																						uc003cmh.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(457-459)acG>acA		Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.							89.0	81.0	84.0					3																	42916850		2203	4300	6503	SO:0001819	synonymous_variant	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916850C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.459G>A	3.37:g.42916850C>T						CCBP2_uc003cmg.3_Intron	p.T153T	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	0	784	-			153					B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP	ENST00000316161.4	37	c.459G>A	CCDS2707.1																																																																																				0.512	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391	
MYLK	4638	broad.mit.edu	37	3	123376130	123376130	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:123376130C>T	ENST00000475616.1	-	21	4130	c.4131G>A	c.(4129-4131)acG>acA	p.T1377T	MYLK_ENST00000359169.1_Silent_p.T1377T|MYLK_ENST00000346322.5_Silent_p.T1308T|MYLK_ENST00000360304.3_Silent_p.T1377T|MYLK_ENST00000360772.3_Silent_p.T1377T|MYLK_ENST00000354792.5_Silent_p.T177T			Q15746	MYLK_HUMAN	myosin light chain kinase	1377	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTCCTTCCACGTCTTGTTGG	0.542																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4129-4131)acG>acA		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							171.0	146.0	154.0					3																	123376130		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123376130C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4131G>A	3.37:g.123376130C>T						MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.T177T|MYLK_uc011bjw.2_Silent_p.T1377T|MYLK_uc003egp.3_Silent_p.T1308T|MYLK_uc003egq.3_Silent_p.T1377T|MYLK_uc003egr.3_Silent_p.T1308T|MYLK_uc003egs.3_Silent_p.T1201T	p.T1377T	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	23	4413	-		Lung NSC(201;0.0496)	1377			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.4131G>A	CCDS46896.1																																																																																				0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
RTP1	132112	broad.mit.edu	37	3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T	rs372732386		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:186917604C>T	ENST00000312295.4	+	2	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682																																						uc003frg.3																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(538-540)Cgc>Tgc		Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.		C	CYS/ARG	0,4400		0,0,2200	24.0	25.0	25.0		538	4.8	1.0	3		25	1,8583		0,1,4291	no	missense	RTP1	NM_153708.2	180	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	180/264	186917604	1,12983	2200	4292	6492	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917604C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.538C>T	3.37:g.186917604C>T	ENSP00000311712:p.Arg180Cys						p.R180C	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	568	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		180						Missense_Mutation	SNP	ENST00000312295.4	37	c.538C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746024	0.69418	0.0	1.16E-4	ENSG00000175077	ENST00000312295	T	0.23950	1.88	5.7	4.82	0.62117	.	0.381494	0.30649	N	0.009169	T	0.33731	0.0873	L	0.44542	1.39	0.39746	D	0.97181	D	0.61697	0.99	P	0.54060	0.741	T	0.12192	-1.0557	10	0.52906	T	0.07	.	12.2521	0.54603	0.1691:0.8309:0.0:0.0	.	180	P59025	RTP1_HUMAN	C	180	ENSP00000311712:R180C	ENSP00000311712:R180C	R	+	1	0	RTP1	188400298	0.604000	0.26932	1.000000	0.80357	0.963000	0.63663	0.710000	0.25748	1.403000	0.46800	0.561000	0.74099	CGC		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
HPSE	10855	broad.mit.edu	37	4	84223384	84223384	+	Missense_Mutation	SNP	C	C	T	rs368692638		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:84223384C>T	ENST00000405413.2	-	11	1380	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	HPSE_ENST00000512196.1_Missense_Mutation_p.G341D|HPSE_ENST00000311412.5_Missense_Mutation_p.G415D|HPSE_ENST00000513463.1_Missense_Mutation_p.G357D	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	415					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	CACCTTGGTGCCCACCAATTT	0.403																																						uc003hoj.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1243-1245)gGc>gAc		Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	Heparin(DB01109)						151.0	129.0	137.0					4																	84223384		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84223384C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1244G>A	4.37:g.84223384C>T	ENSP00000384262:p.Gly415Asp					HPSE_uc003hoi.3_Missense_Mutation_p.G357D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.G158D|HPSE_uc003hok.4_Missense_Mutation_p.G415D|HPSE_uc011cct.2_Missense_Mutation_p.G341D	p.G415D	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	9	1343	-		Hepatocellular(203;0.114)	415					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1244G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435556	0.83885	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.76060	-0.8;-0.8;-0.99;-0.69	4.92	4.92	0.64577	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89382	0.6699	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	P;D;D;D	0.97110	0.795;1.0;1.0;1.0	D	0.91869	0.5506	10	0.87932	D	0	-12.6817	17.0633	0.86553	0.0:1.0:0.0:0.0	.	341;357;357;415	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	D	415;415;341;357	ENSP00000308107:G415D;ENSP00000384262:G415D;ENSP00000423265:G341D;ENSP00000421365:G357D	ENSP00000308107:G415D	G	-	2	0	HPSE	84442408	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	6.044000	0.71012	2.567000	0.86603	0.655000	0.94253	GGC		0.403	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665	
ZFP42	132625	broad.mit.edu	37	4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:188924752C>T	ENST00000326866.4	+	4	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_ENST00000509524.1_Missense_Mutation_p.T264M	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	264					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483																																						uc003izh.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(790-792)aCg>aTg		Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.							78.0	77.0	77.0					4																	188924752		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924752C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.791C>T	4.37:g.188924752C>T	ENSP00000317686:p.Thr264Met					ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1199	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	264					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.791C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507615	0.44558	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.50813	0.73;0.73	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.38531	1.155	0.35697	D	0.815328	D	0.89917	1.0	D	0.81914	0.995	T	0.64989	-0.6277	10	0.59425	D	0.04	.	10.5007	0.44804	0.0:0.9042:0.0:0.0958	.	264	Q96MM3	ZFP42_HUMAN	M	264	ENSP00000317686:T264M;ENSP00000424662:T264M	ENSP00000317686:T264M	T	+	2	0	ZFP42	189161746	1.000000	0.71417	0.023000	0.16930	0.009000	0.06853	7.447000	0.80620	1.445000	0.47624	0.655000	0.94253	ACG		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
AHRR	57491	broad.mit.edu	37	5	422883	422883	+	Missense_Mutation	SNP	G	G	A	rs180979445		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:422883G>A	ENST00000505113.1	+	6	537	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AHRR_ENST00000316418.5_Missense_Mutation_p.V165M|AHRR_ENST00000506456.1_Missense_Mutation_p.V21M|AHRR_ENST00000512529.1_Missense_Mutation_p.V11M	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	165	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTACATCCACGTGGACGACCG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.0		0.001	False		,,,				2504	0.0					uc003jav.3																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(493-495)Gtg>Atg		Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	0,3980		0,0,1990	73.0	81.0	79.0		493,493	4.8	1.0	5		79	1,8297		0,1,4148	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	21,21	0,1,6138	AA,AG,GG		0.0121,0.0,0.0081	probably-damaging,probably-damaging	165/702,165/720	422883	1,12277	1990	4149	6139	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422883G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.493G>A	5.37:g.422883G>A	ENSP00000424601:p.Val165Met					AHRR_uc003jaw.3_Missense_Mutation_p.V165M|AHRR_uc010isy.3_Missense_Mutation_p.V11M|AHRR_uc010isz.3_Missense_Mutation_p.V161M|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Missense_Mutation_p.V21M	p.V165M	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		5	536	+			165			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.493G>A	CCDS56355.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.70	2.910269	0.52439	0.0	1.21E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000514523;ENST00000506456	T;T;T;T	0.26223	2.28;2.28;1.75;1.76	4.76	4.76	0.60689	PAS (2);PAS fold (1);	0.057254	0.64402	D	0.000002	T	0.47322	0.1439	L	0.60455	1.87	0.45747	D	0.998649	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.995;0.983	T	0.48570	-0.9024	10	0.72032	D	0.01	.	15.254	0.73571	0.0:0.0:1.0:0.0	.	21;165;165	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	M	165;165;11;11;21	ENSP00000424601:V165M;ENSP00000323816:V165M;ENSP00000424880:V11M;ENSP00000426932:V21M	ENSP00000323816:V165M	V	+	1	0	AHRR	475883	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.849000	0.75414	2.164000	0.68074	0.655000	0.94253	GTG		0.547	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731	
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:56160697C>T	ENST00000399503.3	+	4	971	c.971C>T	c.(970-972)cCt>cTt	p.P324L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	324					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(970-972)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							110.0	109.0	109.0					5																	56160697		1888	4111	5999	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160697C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.971C>T	5.37:g.56160697C>T	ENSP00000382423:p.Pro324Leu						p.P324L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	1472	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	324						Missense_Mutation	SNP	ENST00000399503.3	37	c.971C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922032	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.72167	-0.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86368	0.1721	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	324	Q13233	M3K1_HUMAN	L	324	ENSP00000382423:P324L	ENSP00000382423:P324L	P	+	2	0	MAP3K1	56196454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.764000	0.74960	2.737000	0.93849	0.563000	0.77884	CCT		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
PIK3R1	5295	broad.mit.edu	37	5	67576379	67576379	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:67576379A>T	ENST00000521381.1	+	6	1274	c.658A>T	c.(658-660)Att>Ttt	p.I220F	PIK3R1_ENST00000274335.5_Missense_Mutation_p.I220F|PIK3R1_ENST00000396611.1_Missense_Mutation_p.I220F|PIK3R1_ENST00000521657.1_Missense_Mutation_p.I220F	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	220	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAAGAATATATTCAGCTATT	0.343			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(658-660)Att>Ttt		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)						117.0	134.0	128.0					5																	67576379		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67576379A>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.658A>T	5.37:g.67576379A>T	ENSP00000428056:p.Ile220Phe	TCGA GBM(4;<1E-08)					p.I220F	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	5	1238	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	220			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.658A>T	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.967077	0.34754	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.61	1.88	0.25563	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.558043	0.19917	N	0.103165	T	0.32315	0.0825	L	0.35542	1.07	0.37637	D	0.921908	B	0.20368	0.044	B	0.27500	0.08	T	0.16897	-1.0387	10	0.49607	T	0.09	-0.1039	3.1747	0.06564	0.3681:0.2457:0.3861:0.0	.	220	P27986	P85A_HUMAN	F	220;220;220;220;122	ENSP00000428056:I220F;ENSP00000429277:I220F;ENSP00000379855:I220F;ENSP00000274335:I220F;ENSP00000428566:I122F	ENSP00000274335:I220F	I	+	1	0	PIK3R1	67612135	0.912000	0.30974	0.275000	0.24674	0.565000	0.35776	3.558000	0.53749	0.387000	0.25024	-0.609000	0.04063	ATT		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
ZNF608	57507	broad.mit.edu	37	5	123984804	123984804	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:123984804C>A	ENST00000306315.5	-	4	1708	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	425							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTCCAGGTCACTTGTCGGT	0.552																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1273-1275)Gac>Tac		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.							23.0	25.0	24.0					5																	123984804		2199	4282	6481	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984804C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1273G>T	5.37:g.123984804C>A	ENSP00000307746:p.Asp425Tyr					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	p.D425Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	3	1456	-		all_cancers(142;0.186)|Prostate(80;0.081)	425					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1273G>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703756	0.88924	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.65916	-0.18	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82234	-0.0558	10	0.87932	D	0	-28.2745	19.1926	0.93672	0.0:1.0:0.0:0.0	.	425	Q9ULD9	ZN608_HUMAN	Y	425	ENSP00000307746:D425Y	ENSP00000307746:D425Y	D	-	1	0	ZNF608	124012703	1.000000	0.71417	0.955000	0.39395	0.969000	0.65631	7.802000	0.85969	2.537000	0.85549	0.544000	0.68410	GAC		0.552	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:147781654G>A	ENST00000340253.5	+	4	540	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000394370.3_Silent_p.E124E|FBXO38_ENST00000513826.1_Silent_p.E124E|FBXO38_ENST00000296701.6_Silent_p.E124E			Q6PIJ6	FBX38_HUMAN	F-box protein 38	124					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(370-372)gaG>gaA		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							143.0	136.0	138.0					5																	147781654		2203	4299	6502	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147781654G>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.372G>A	5.37:g.147781654G>A						FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	p.E124E	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	492	+			124					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.372G>A																																																																																					0.448	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
NDUFAF4	29078	broad.mit.edu	37	6	97344693	97344693	+	Missense_Mutation	SNP	C	C	T	rs142963790		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:97344693C>T	ENST00000316149.7	-	2	246	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	56					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TTCATCTTTACGAGCAATCTC	0.333																																						uc003pow.3																			0				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						c.(166-168)cGt>cAt		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.							144.0	144.0	144.0					6																	97344693		2203	4300	6503	SO:0001583	missense	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97344693C>T	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.167G>A	6.37:g.97344693C>T	ENSP00000358272:p.Arg56His					NDUFAF4_uc003pov.3_Non-coding_Transcript	p.R56H	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN			1	257	-			56					B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	c.167G>A	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648699	0.29336	.	.	ENSG00000123545	ENST00000316149	D	0.83837	-1.77	3.93	3.04	0.35103	.	0.554792	0.19181	N	0.120693	T	0.63920	0.2552	M	0.63428	1.95	0.09310	N	1	B	0.30973	0.302	B	0.25759	0.063	T	0.58962	-0.7543	10	0.52906	T	0.07	.	7.5543	0.27814	0.0:0.7315:0.0:0.2685	.	56	Q9P032	NDUF4_HUMAN	H	56	ENSP00000358272:R56H	ENSP00000358272:R56H	R	-	2	0	NDUFAF4	97451414	0.000000	0.05858	0.027000	0.17364	0.006000	0.05464	0.334000	0.19787	0.962000	0.38057	0.557000	0.71058	CGT		0.333	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165	
GRM1	2911	broad.mit.edu	37	6	146755476	146755476	+	Silent	SNP	C	C	A	rs200835963		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:146755476C>A	ENST00000282753.1	+	8	3364	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	GRM1_ENST00000361719.2_Silent_p.T1043T|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1043					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTTCAGTACCGCGATCCCGG	0.672																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3127-3129)acC>acA		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						32.0	37.0	35.0					6																	146755476		2201	4297	6498	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755476C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3129C>A	6.37:g.146755476C>A						GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.T1043T	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	3599	+		Ovarian(120;0.0387)	1043					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.3129C>A	CCDS5209.1																																																																																				0.672	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
TIAM2	26230	broad.mit.edu	37	6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:155566797C>T	ENST00000461783.3	+	21	4857	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	TIAM2_ENST00000456877.2_Missense_Mutation_p.A507V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1195V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1219V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1195V|TIAM2_ENST00000528391.2_Missense_Mutation_p.A531V|TIAM2_ENST00000367174.2_Missense_Mutation_p.A571V|TIAM2_ENST00000275246.7_Missense_Mutation_p.A120V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1195V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1195	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1195V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTATTACGCGGACCACTTT	0.403																																						uc003qqb.3																			1	Substitution - Missense(1)	p.A1195V(2)|p.Y1194Y(1)	endometrium(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3583-3585)gCg>gTg		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							235.0	249.0	244.0					6																	155566797		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155566797C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3584C>T	6.37:g.155566797C>T	ENSP00000437188:p.Ala1195Val					TIAM2_uc003qqe.3_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.3_Missense_Mutation_p.A728V|TIAM2_uc003qqf.3_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.3_Missense_Mutation_p.A507V|TIAM2_uc003qqh.3_Missense_Mutation_p.A120V	p.A1195V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	20	4857	+		Ovarian(120;0.196)	1195			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3584C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616765	0.87359	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246;ENST00000462408	T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.43	5.43	0.79202	Dbl homology (DH) domain (5);	0.050880	0.85682	D	0.000000	T	0.56247	0.1972	L	0.33339	1.005	0.58432	D	0.999994	P;D;D;D	0.76494	0.932;0.993;0.999;0.989	P;P;P;P	0.57960	0.593;0.799;0.83;0.594	T	0.49735	-0.8908	10	0.16420	T	0.52	.	19.2631	0.93975	0.0:1.0:0.0:0.0	.	531;1195;1219;1195	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	V	1195;1441;1195;1195;1195;571;1219;1195;507;531;120;133	ENSP00000437188:A1195V;ENSP00000434901:A1195V;ENSP00000407746:A1195V;ENSP00000327315:A1195V;ENSP00000356142:A571V;ENSP00000353528:A1219V;ENSP00000433348:A1195V;ENSP00000407183:A507V;ENSP00000435335:A531V;ENSP00000275246:A120V;ENSP00000431269:A133V	ENSP00000275246:A120V	A	+	2	0	TIAM2	155608489	1.000000	0.71417	0.530000	0.27963	0.989000	0.77384	7.794000	0.85869	2.540000	0.85666	0.650000	0.86243	GCG		0.403	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
ZPBP	11055	broad.mit.edu	37	7	50097645	50097645	+	Missense_Mutation	SNP	C	C	T	rs148913753		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:50097645C>T	ENST00000046087.2	-	4	496	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_ENST00000419417.1_Missense_Mutation_p.E142K|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	143					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328																																						uc003tou.3																			0		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(427-429)Gaa>Aaa		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	99.0	99.0	99.0		424,427	3.7	0.9	7	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	ZPBP	NM_001159878.1,NM_007009.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	142/351,143/352	50097645	1,13005	2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097645C>T	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.427G>A	7.37:g.50097645C>T	ENSP00000046087:p.Glu143Lys					ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	p.E143K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	497	-	Glioma(55;0.08)|all_neural(89;0.245)		143					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.427G>A	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513442	0.27123	2.27E-4	0.0	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.77098	-1.07;-1.07	5.66	3.65	0.41850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.357292	0.24686	N	0.036431	T	0.71409	0.3336	L	0.57536	1.79	0.20307	N	0.999915	B;B	0.22211	0.066;0.066	B;B	0.17722	0.019;0.019	T	0.59600	-0.7424	9	.	.	.	-13.0798	11.4754	0.50295	0.1467:0.7263:0.127:0.0	.	142;143	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	K	143;142	ENSP00000046087:E143K;ENSP00000402071:E142K	.	E	-	1	0	ZPBP	50068191	0.075000	0.21258	0.886000	0.34754	0.965000	0.64279	0.412000	0.21131	1.365000	0.46057	0.591000	0.81541	GAA		0.328	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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.A289V(20)|p.A289D(3)		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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	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						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		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.chr7:55221822C>T		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.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	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)		6	1112	+	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)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	RNA	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:72093896C>T	ENST00000435769.2	-	0	1716				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGTCAGGATTCCCCAGGGACA	0.537																																						uc011kej.2																			0											c.(1588-1590)ggG>ggA		Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.							42.0	47.0	46.0					7																	72093896		692	1590	2282			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093896C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093896C>T						TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G	p.G530G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			13	1749	-			531					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1590G>A																																																																																					0.537	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440	
EPO	2056	broad.mit.edu	37	7	100319586	100319586	+	Splice_Site	SNP	C	C	T	rs201069425		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:100319586C>T	ENST00000252723.2	+	3	342	c.161C>T	c.(160-162)aCg>aTg	p.T54M		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	54					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATTTCAGACGGGCTGTGCT	0.532																																						uc003uwi.3																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.e3-1		Homo sapiens erythropoietin (EPO), mRNA.	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						101.0	97.0	98.0					7																	100319586		2203	4300	6503	SO:0001630	splice_region_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100319586C>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.160-1C>T	7.37:g.100319586C>T						EPO_uc011kkc.1_Splice_Site_p.T54_splice	p.T54_splice	NM_000799	NP_000790	P01588	EPO_HUMAN			3	341	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		54					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.160_splice	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517662	0.13005	.	.	ENSG00000130427	ENST00000252723	T	0.37915	1.17	4.65	0.96	0.19631	Erythropoietin/thrombopoeitin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.346611	0.31554	N	0.007455	T	0.06600	0.0169	N	0.00066	-2.3	0.22213	N	0.999288	B;B	0.12013	0.005;0.005	B;B	0.04013	0.001;0.001	T	0.39901	-0.9591	10	0.49607	T	0.09	-31.4307	6.1253	0.20176	0.0:0.3187:0.0:0.6813	.	54;54	B7ZKK5;P01588	.;EPO_HUMAN	M	54	ENSP00000252723:T54M	ENSP00000252723:T54M	T	+	2	0	EPO	100157522	0.988000	0.35896	0.917000	0.36280	0.334000	0.28698	0.250000	0.18235	0.265000	0.21872	-0.339000	0.08088	ACG		0.532	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799	Missense_Mutation
LAMB1	3912	broad.mit.edu	37	7	107575937	107575937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:107575937G>A	ENST00000222399.6	-	27	4341	c.4111C>T	c.(4111-4113)Caa>Taa	p.Q1371*	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Nonsense_Mutation_p.Q1395*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1371	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGCTCCTCTTGTTTTTCCTTG	0.532																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4183-4185)Caa>Taa		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						300.0	264.0	276.0					7																	107575937		2203	4300	6503	SO:0001587	stop_gained	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107575937G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4111C>T	7.37:g.107575937G>A	ENSP00000222399:p.Gln1371*					LAMB1_uc003vew.2_Nonsense_Mutation_p.Q1371*	p.Q1395*	NM_002291	NP_002282	P07942	LAMB1_HUMAN			24	4344	-			1371			Domain II.		Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	c.4183C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	45	11.374641	0.99553	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.8947	0.92419	0.0:0.0:1.0:0.0	.	.	.	.	X	1395;1371	.	ENSP00000222399:Q1371X	Q	-	1	0	LAMB1	107363173	1.000000	0.71417	0.948000	0.38648	0.971000	0.66376	9.263000	0.95617	2.710000	0.92621	0.655000	0.94253	CAA		0.532	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
ASZ1	136991	broad.mit.edu	37	7	117024875	117024875	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:117024875C>G	ENST00000284629.2	-	6	654	c.592G>C	c.(592-594)Gtt>Ctt	p.V198L		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACTTCAAAACTATATTTTTA	0.383																																						uc003vjb.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(592-594)Gtt>Ctt		Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.							132.0	119.0	124.0					7																	117024875		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024875C>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.592G>C	7.37:g.117024875C>G	ENSP00000284629:p.Val198Leu					ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR	p.V198L	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		5	655	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		198						Missense_Mutation	SNP	ENST00000284629.2	37	c.592G>C	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776852	0.70107	.	.	ENSG00000154438	ENST00000284629	T	0.71579	-0.58	5.92	2.55	0.30701	Ankyrin repeat-containing domain (4);	0.116062	0.64402	D	0.000018	T	0.64875	0.2638	L	0.43598	1.365	0.49213	D	0.999764	P;P	0.40431	0.717;0.717	B;B	0.44133	0.442;0.442	T	0.62525	-0.6836	10	0.72032	D	0.01	-22.5334	9.1247	0.36807	0.0:0.7184:0.0:0.2816	.	198;198	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	L	198	ENSP00000284629:V198L	ENSP00000284629:V198L	V	-	1	0	ASZ1	116812111	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	0.952000	0.29149	0.196000	0.20367	0.655000	0.94253	GTT		0.383	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206859G>A	ENST00000357374.2	-	1	283	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	80					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L80F(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483																																						uc003zoq.1																			1	Substitution - Missense(1)	p.L80F(2)|p.V79A(2)	lung(1)	endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(238-240)Ctc>Ttc		Homo sapiens interferon, alpha 10 (IFNA10), mRNA.							53.0	59.0	57.0					9																	21206859		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206859G>A		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.238C>T	9.37:g.21206859G>A	ENSP00000369566:p.Leu80Phe					IFNA14_uc003zoo.1_Intron	p.L80F	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	0	284	-			80					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.238C>T	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	16.06	3.015173	0.54468	.	.	ENSG00000186803	ENST00000357374	T	0.04551	3.6	3.75	-0.143	0.13444	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.829753	0.10704	N	0.643733	T	0.10465	0.0256	M	0.65498	2.005	0.09310	N	1	B	0.19706	0.038	B	0.39152	0.292	T	0.43130	-0.9410	10	0.62326	D	0.03	.	9.0205	0.36198	0.0:0.6049:0.2565:0.1386	.	80	P01566	IFN10_HUMAN	F	80	ENSP00000369566:L80F	ENSP00000369566:L80F	L	-	1	0	IFNA10	21196859	0.000000	0.05858	0.000000	0.03702	0.990000	0.78478	-1.579000	0.02123	0.155000	0.19261	0.499000	0.49734	CTC		0.483	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171	
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206861A>G	ENST00000357374.2	-	1	281	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	79					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488																																						uc003zoq.1																			2	Substitution - Missense(2)	p.V79A(4)	lung(2)	endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(235-237)gTc>gCc		Homo sapiens interferon, alpha 10 (IFNA10), mRNA.							54.0	60.0	58.0					9																	21206861		2201	4297	6498	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206861A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.236T>C	9.37:g.21206861A>G	ENSP00000369566:p.Val79Ala					IFNA14_uc003zoo.1_Intron	p.V79A	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	0	282	-			79					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.236T>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	15.90	2.968995	0.53614	.	.	ENSG00000186803	ENST00000357374	T	0.04917	3.53	3.75	1.29	0.21616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.514561	0.19597	N	0.110500	T	0.07638	0.0192	L	0.54863	1.705	0.09310	N	1	B	0.16802	0.019	B	0.33454	0.164	T	0.35226	-0.9797	10	0.66056	D	0.02	.	2.8329	0.05505	0.5958:0.0:0.2161:0.1881	.	79	P01566	IFN10_HUMAN	A	79	ENSP00000369566:V79A	ENSP00000369566:V79A	V	-	2	0	IFNA10	21196861	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.641000	0.24720	0.034000	0.15491	0.409000	0.27619	GTC		0.488	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171	
ZNF618	114991	broad.mit.edu	37	9	116750724	116750724	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:116750724C>T	ENST00000374126.5	+	3	300	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ZNF618_ENST00000288466.7_Silent_p.P67P			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGAGCTGCCCGATGACTACA	0.632																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(199-201)ccC>ccT		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							63.0	70.0	68.0					9																	116750724		2171	4265	6436	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116750724C>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.201C>T	9.37:g.116750724C>T						ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.3_Silent_p.P67P|ZNF618_uc011lxi.2_Silent_p.P67P|ZNF618_uc011lxj.2_Silent_p.P67P	p.P67P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			2	300	+			67					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.201C>T																																																																																					0.632	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
SNAPC4	6621	broad.mit.edu	37	9	139282191	139282192	+	Intron	INS	-	-	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:139282191_139282192insA	ENST00000298532.2	-	11	1599					NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGCACACTTACAGCATCTTC	0.579																																						uc004chh.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.e11+1		Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.																																				SO:0001627	intron_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139282191_139282192insA	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1230+1->T	9.37:g.139282192_139282192dupA							p.A410_splice	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	11	1239	-		Myeloproliferative disorder(178;0.0511)	410			HTH myb-type 2.			Splice_Site	INS	ENST00000298532.2	37	c.1230_splice	CCDS6998.1																																																																																				0.579	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
NOXA1	10811	broad.mit.edu	37	9	140325755	140325755	+	Missense_Mutation	SNP	G	G	A	rs141558298		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:140325755G>A	ENST00000341349.2	+	8	946	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	NOXA1_ENST00000392815.2_Missense_Mutation_p.G200S	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	256					positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GACAGAGGTCGGTGCTGACCG	0.672																																						uc004cmu.3																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(766-768)Ggt>Agt		Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.		G	SER/GLY	1,4403	2.1+/-5.4	0,1,2201	61.0	60.0	61.0		766	-2.6	0.0	9	dbSNP_134	61	0,8598		0,0,4299	no	missense	NOXA1	NM_006647.1	56	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	256/484	140325755	1,13001	2202	4299	6501	SO:0001583	missense	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140325755G>A	AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.766G>A	9.37:g.140325755G>A	ENSP00000342848:p.Gly256Ser					NOXA1_uc004cmv.3_Missense_Mutation_p.G256S|NOXA1_uc010nch.3_Missense_Mutation_p.G200S	p.G256S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	7	901	+	all_cancers(76;0.0926)		256					O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	ENST00000341349.2	37	c.766G>A	CCDS7042.1	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415091	0.11870	2.27E-4	0.0	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.87809	-2.3;-2.15	1.81	-2.6	0.06190	.	1.158980	0.06735	N	0.777424	T	0.74665	0.3746	N	0.20986	0.625	0.09310	N	1	B;B;B	0.29862	0.259;0.01;0.168	B;B;B	0.19946	0.016;0.0;0.027	T	0.58607	-0.7607	10	0.40728	T	0.16	.	6.5423	0.22387	0.643:0.0:0.357:0.0	.	200;256;256	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	256;200	ENSP00000342848:G256S;ENSP00000376562:G200S	ENSP00000342848:G256S	G	+	1	0	NOXA1	139445576	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.862000	0.00725	-0.856000	0.04120	-0.254000	0.11334	GGT		0.672	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254713.1		
TUBBP5	643224	broad.mit.edu	37	9	141071420	141071420	+	RNA	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:141071420G>A	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.D347N(3)									CTGGTTCCCCGACAACGTAAA	0.512																																						uc010ncq.3																			3	Substitution - Missense(3)	p.D347N(3)	urinary_tract(2)|kidney(1)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141071420G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071420G>A														4		+									Missense_Mutation	SNP	ENST00000503395.1	37																																																																																						0.512	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
ARHGAP6	395	broad.mit.edu	37	X	11160414	11160414	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:11160414G>A	ENST00000337414.4	-	12	3068	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ARHGAP6_ENST00000534860.1_Silent_p.F557F|ARHGAP6_ENST00000380736.1_Silent_p.F529F|ARHGAP6_ENST00000303025.6_Silent_p.F529F	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	732					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATATCGAAAGGCTCCT	0.318																																						uc004cup.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2194-2196)ttC>ttT		Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.							89.0	87.0	88.0					X																	11160414		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11160414G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2196C>T	X.37:g.11160414G>A						ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	p.F732F	NM_013427	NP_038286	O43182	RHG06_HUMAN			11	3069	-			732					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2196C>T	CCDS14140.1																																																																																				0.318	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
SCML2	10389	broad.mit.edu	37	X	18348708	18348708	+	Splice_Site	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:18348708C>T	ENST00000251900.4	-	3	249	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	30					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AAAACCTACCCCTTTGTACAG	0.308																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.e3+1		Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.							73.0	65.0	68.0					X																	18348708		2202	4299	6501	SO:0001630	splice_region_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18348708C>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.91+1G>A	X.37:g.18348708C>T						SCML2_uc004cyk.3_Splice_Site|SCML2_uc010nfd.1_Splice_Site_p.D31_splice|SCML2_uc011miz.1_Intron	p.D31_splice	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			3	248	-	Hepatocellular(33;0.183)		31					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.91_splice	CCDS14185.1																																																																																				0.308	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	Silent
DCAF8L2	347442	broad.mit.edu	37	X	27765650	27765650	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:27765650C>A	ENST00000451261.2	+	5	1037	c.638C>A	c.(637-639)gCc>gAc	p.A213D		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	213										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGGGCAAGAGCCTTTGTGCAG	0.592																																						uc011mjy.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(637-639)gCc>gAc		Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.							68.0	55.0	59.0					X																	27765650		692	1591	2283	SO:0001583	missense	347442							g.chrX:27765650C>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.638C>A	X.37:g.27765650C>A	ENSP00000462745:p.Ala213Asp						p.A213D	NM_001136533	NP_001130005					0	725	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.638C>A	CCDS59162.1																																																																																				0.592	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354	
FAM47C	442444	broad.mit.edu	37	X	37028542	37028542	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:37028542G>A	ENST00000358047.3	+	1	2111	c.2059G>A	c.(2059-2061)Gta>Ata	p.V687I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	687										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.657																																						uc004ddl.2																			0		p.R686H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2059-2061)Gta>Ata		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							33.0	32.0	32.0					X																	37028542		2202	4293	6495	SO:0001583	missense	442444							g.chrX:37028542G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2059G>A	X.37:g.37028542G>A	ENSP00000367913:p.Val687Ile						p.V687I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			0	2111	+			687					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2059G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	8.665	0.901476	0.17760	.	.	ENSG00000198173	ENST00000358047	T	0.18502	2.21	0.933	0.933	0.19471	.	.	.	.	.	T	0.16769	0.0403	M	0.66939	2.045	0.09310	N	1	P	0.44734	0.842	B	0.38755	0.281	T	0.12268	-1.0554	9	0.37606	T	0.19	.	7.6002	0.28071	1.0E-4:0.0:0.9999:0.0	.	687	Q5HY64	FA47C_HUMAN	I	687	ENSP00000367913:V687I	ENSP00000367913:V687I	V	+	1	0	FAM47C	36938463	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.021000	0.30040	0.161000	0.19458	0.162000	0.16502	GTA		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
BCORL1	63035	broad.mit.edu	37	X	129149265	129149265	+	Silent	SNP	G	G	A	rs201695526		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:129149265G>A	ENST00000218147.7	+	4	2714	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	BCORL1_ENST00000359304.2_Silent_p.A839A|BCORL1_ENST00000303743.5_Silent_p.A839A|BCORL1_ENST00000540052.1_Silent_p.A839A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	839					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACCACCAGGCGTCTCTGCTTT	0.607																																						uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2515-2517)gcG>gcA		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							49.0	53.0	51.0					X																	129149265		2202	4294	6496	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149265G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2517G>A	X.37:g.129149265G>A						BCORL1_uc010nrd.1_Silent_p.A741A	p.A839A	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			2	2561	+			839					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2517G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.279455	0.01410	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.36702	D	0.880174	.	.	.	.	.	.	T	0.56529	-0.7964	4	.	.	.	-0.5946	9.7379	0.40399	0.1524:0.1205:0.6509:0.0762	.	.	.	.	I	275	.	.	V	+	1	0	BCORL1	128976946	0.001000	0.12720	0.052000	0.19188	0.402000	0.30811	-1.063000	0.03465	-1.709000	0.01399	-1.261000	0.01458	GTC		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
GPR112	139378	broad.mit.edu	37	X	135485475	135485475	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135485475C>A	ENST00000394143.1	+	22	8939	c.8648C>A	c.(8647-8649)aCt>aAt	p.T2883N	GPR112_ENST00000412101.1_Missense_Mutation_p.T2678N|GPR112_ENST00000394141.1_Missense_Mutation_p.T2678N|GPR112_ENST00000287534.4_Missense_Mutation_p.T2636N|GPR112_ENST00000370652.1_Missense_Mutation_p.T2883N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2883					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCCAACAACTCCGTTGTAA	0.498																																						uc004ezu.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8647-8649)aCt>aAt		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							123.0	82.0	96.0					X																	135485475		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485475C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8648C>A	X.37:g.135485475C>A	ENSP00000377699:p.Thr2883Asn					GPR112_uc010nsb.1_Missense_Mutation_p.T2678N	p.T2883N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			21	8939	+	Acute lymphoblastic leukemia(192;0.000127)		2883					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8648C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377817	0.24944	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.67	4.81	0.61882	GPCR, family 2-like (1);	.	.	.	.	T	0.44435	0.1293	L	0.38953	1.18	0.09310	N	1	D;B	0.59357	0.985;0.178	D;P	0.63703	0.917;0.67	T	0.24190	-1.0167	9	0.51188	T	0.08	.	7.333	0.26594	0.0:0.7414:0.1659:0.0926	.	2678;2883	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	N	2883;2883;2678;2636;2678	ENSP00000377699:T2883N;ENSP00000359686:T2883N;ENSP00000416526:T2678N;ENSP00000287534:T2636N;ENSP00000377697:T2678N	ENSP00000287534:T2636N	T	+	2	0	GPR112	135313141	0.010000	0.17322	0.020000	0.16555	0.223000	0.24884	1.682000	0.37628	1.262000	0.44165	0.600000	0.82982	ACT		0.498	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
RBMX	27316	broad.mit.edu	37	X	135961572	135961572	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135961572A>T	ENST00000320676.7	-	2	169	c.15T>A	c.(13-15)gaT>gaA	p.D5E	RBMX_ENST00000562646.1_Missense_Mutation_p.D5E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.D5E|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	5					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGGGCGATCTGCTTCAA	0.403																																						uc004fae.2																			0		p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(13-15)gaT>gaA		Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.							92.0	86.0	88.0					X																	135961572		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961572A>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.15T>A	X.37:g.135961572A>T	ENSP00000359645:p.Asp5Glu					RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	p.D5E	NM_002139	NP_002130	P38159	HNRPG_HUMAN			1	225	-	Acute lymphoblastic leukemia(192;0.000127)		5					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.15T>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	16.29	3.082022	0.55861	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	T;T	0.78707	3.2;-1.2	4.66	2.29	0.28610	.	0.000000	0.85682	U	0.000000	T	0.67730	0.2924	L	0.38175	1.15	0.80722	D	1	P;B;P	0.48089	0.869;0.015;0.905	B;B;B	0.44224	0.418;0.056;0.444	T	0.65302	-0.6201	10	0.56958	D	0.05	.	7.8416	0.29402	0.8256:0.0:0.1744:0.0	.	5;5;5	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	E	5	ENSP00000411989:D5E;ENSP00000359645:D5E	ENSP00000359645:D5E	D	-	3	2	RBMX	135789238	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.352000	0.44080	0.495000	0.27882	0.413000	0.27773	GAT		0.403	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139	
