#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMEM201	199953	broad.mit.edu	37	1	9661266	9661266	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:9661266G>T	ENST00000340381.6	+	5	719	c.710G>T	c.(709-711)aGc>aTc	p.S237I	TMEM201_ENST00000377376.4_Missense_Mutation_p.S237I|TMEM201_ENST00000340305.5_Missense_Mutation_p.S237I	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	237					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TATGGGGCCAGCGGACACTTC	0.687																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(709-711)aGc>aTc		transmembrane protein 201							64.0	65.0	64.0					1																	9661266		2203	4300	6503	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9661266G>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.710G>T	1.37:g.9661266G>T	ENSP00000344503:p.Ser237Ile					TMEM201_ENST00000340381.6_Missense_Mutation_p.S237I|TMEM201_ENST00000377376.4_Missense_Mutation_p.S237I	p.S237I	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	719	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	237					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.710G>T	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.023175|2.023175	0.35701|0.35701	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.98|4.98	4.07|4.07	0.47477|0.47477	.|.	.|0.399656	.|0.28016	.|N	.|0.016935	T|T	0.33381|0.33381	0.0861|0.0861	L|L	0.29908|0.29908	0.895|0.895	0.24253|0.24253	N|N	0.995316|0.995316	.|B;B	.|0.33940	.|0.298;0.433	.|B;B	.|0.39419	.|0.259;0.299	T|T	0.17684|0.17684	-1.0361|-1.0361	5|9	.|0.29301	.|T	.|0.29	-7.4689|-7.4689	10.518|10.518	0.44900|0.44900	0.0894:0.0:0.9106:0.0|0.0894:0.0:0.9106:0.0	.|.	.|237;237	.|E9PBR6;Q5SNT2-2	.|.;.	H|I	146|237	.|.	.|ENSP00000344772:S237I	Q|S	+|+	3|2	2|0	TMEM201|TMEM201	9583853|9583853	0.190000|0.190000	0.23276|0.23276	0.148000|0.148000	0.22405|0.22405	0.005000|0.005000	0.04900|0.04900	2.947000|2.947000	0.49058|0.49058	1.100000|1.100000	0.41517|0.41517	0.563000|0.563000	0.77884|0.77884	CAG|AGC		0.687	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		18	86	1	0	1.56452e-12	1	1.84243e-12	18	86				
GRIN2A	2903	broad.mit.edu	37	16	10032121	10032121	+	Silent	SNP	G	G	A	rs150208429		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr16:10032121G>A	ENST00000396573.2	-	4	1011	c.702C>T	c.(700-702)gaC>gaT	p.D234D	GRIN2A_ENST00000396575.2_Silent_p.D234D|GRIN2A_ENST00000404927.2_Silent_p.D234D|GRIN2A_ENST00000562109.1_Silent_p.D234D|GRIN2A_ENST00000535259.1_Silent_p.D77D|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Silent_p.D234D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	234					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)			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)	GAACAGCCTCGTCTTTGGAAC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		23798	0.0		0.0	False		,,,				2504	0.001					ENST00000396573.2																			0				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.(700-702)gaC>gaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	G	,,	0,4394		0,0,2197	94.0	84.0	88.0		702,702,702	-10.4	0.5	16	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	234/1465,234/1465,234/1282	10032121	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:10032121G>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.702C>T	16.37:g.10032121G>A						GRIN2A_ENST00000535259.1_Silent_p.D77D|GRIN2A_ENST00000562109.1_Silent_p.D234D|GRIN2A_ENST00000404927.2_Silent_p.D234D|GRIN2A_ENST00000330684.3_Silent_p.D234D|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Silent_p.D234D	p.D234D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1011	-			234					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.702C>T	CCDS10539.1																																																																																				0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			13	71	0	0	0	1	0	13	71				
ZBTB16	7704	broad.mit.edu	37	11	114113009	114113009	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:114113009G>A	ENST00000335953.4	+	5	1954	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525H|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	525					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAGTGCAACCGCACCTTCCCC	0.632																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1573-1575)cGc>cAc		zinc finger and BTB domain containing 16							54.0	43.0	47.0					11																	114113009		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114113009G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1574G>A	11.37:g.114113009G>A	ENSP00000338157:p.Arg525His					ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525H	p.R525H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1954	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	525					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1574G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672962	0.96754	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.16073	2.37;2.37	5.65	5.65	0.86999	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	0.43166	0.1235	M	0.62209	1.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.14755	-1.0461	10	0.72032	D	0.01	-18.6711	20.0965	0.97849	0.0:0.0:1.0:0.0	.	525	Q05516	ZBT16_HUMAN	H	525;525;402	ENSP00000338157:R525H;ENSP00000376721:R525H	ENSP00000309507:R402H	R	+	2	0	ZBTB16	113618219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.733000	0.98818	2.824000	0.97209	0.655000	0.94253	CGC		0.632	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		4	76	0	0	0	1	0	4	76				
ENOX1	55068	broad.mit.edu	37	13	43986996	43986996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:43986996G>A	ENST00000261488.6	-	4	632	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.Q19*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	19					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCCATCATCTGAGGAAGCTCC	0.483																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(55-57)Cag>Tag		ecto-NOX disulfide-thiol exchanger 1							124.0	110.0	115.0					13																	43986996		2203	4300	6503	SO:0001587	stop_gained	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43986996G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.55C>T	13.37:g.43986996G>A	ENSP00000261488:p.Gln19*					ENOX1_ENST00000412891.1_Nonsense_Mutation_p.Q19*	p.Q19*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	4	632	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	19					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Nonsense_Mutation	SNP	ENST00000261488.6	37	c.55C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	38	6.852230	0.97885	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	.	.	.	5.91	5.06	0.68205	.	0.519829	0.19293	N	0.117853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.0917	5.1255	0.14882	0.0777:0.1447:0.6276:0.15	.	.	.	.	X	19	.	ENSP00000261488:Q19X	Q	-	1	0	ENOX1	42884996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.177000	0.42509	1.502000	0.48669	0.655000	0.94253	CAG		0.483	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		14	78	0	0	0	1	0	14	78				
GNA13	10672	broad.mit.edu	37	17	63010657	63010657	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:63010657G>A	ENST00000439174.2	-	4	1097	c.852C>T	c.(850-852)gtC>gtT	p.V284V	GNA13_ENST00000541118.1_Silent_p.V189V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	284					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GAATTATGGAGACATTGCTGA	0.408																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(850-852)gtC>gtT		guanine nucleotide binding protein (G protein), alpha 13							100.0	99.0	100.0					17																	63010657		2203	4300	6503	SO:0001819	synonymous_variant	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010657G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.852C>T	17.37:g.63010657G>A						GNA13_ENST00000541118.1_Silent_p.V189V	p.V284V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			4	1097	-			284					B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	c.852C>T	CCDS11661.1																																																																																				0.408	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		26	86	0	0	0	1	0	26	86				
ATP10A	57194	broad.mit.edu	37	15	25953436	25953436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25953436C>G	ENST00000356865.6	-	11	2467	c.2356G>C	c.(2356-2358)Ggg>Cgg	p.G786R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	786					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGATGCCTCCCTCTGGCGTCA	0.512																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2356-2358)Ggg>Cgg		ATPase, class V, type 10A							97.0	85.0	89.0					15																	25953436		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953436C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2356G>C	15.37:g.25953436C>G	ENSP00000349325:p.Gly786Arg						p.G786R	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2467	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	786					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2356G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009084	0.75046	.	.	ENSG00000206190	ENST00000356865	D	0.85861	-2.04	4.84	4.84	0.62591	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.055474	0.64402	D	0.000001	D	0.91405	0.7288	M	0.83603	2.65	0.80722	D	1	P	0.51240	0.943	P	0.59424	0.857	D	0.89949	0.4078	10	0.23302	T	0.38	-18.4564	17.9717	0.89115	0.0:1.0:0.0:0.0	.	786	O60312	AT10A_HUMAN	R	786	ENSP00000349325:G786R	ENSP00000349325:G786R	G	-	1	0	ATP10A	23504529	1.000000	0.71417	0.991000	0.47740	0.616000	0.37450	5.802000	0.69122	2.231000	0.72958	0.655000	0.94253	GGG		0.512	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		16	67	0	0	0	1	0	16	67				
EPB41L3	23136	broad.mit.edu	37	18	5438039	5438039	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr18:5438039G>A	ENST00000341928.2	-	6	940	c.600C>T	c.(598-600)atC>atT	p.I200I	EPB41L3_ENST00000400111.3_Silent_p.I200I|EPB41L3_ENST00000342933.3_Silent_p.I200I|EPB41L3_ENST00000540638.2_Silent_p.I200I|EPB41L3_ENST00000544123.1_Silent_p.I200I|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATACCTGGTGATATCTTCAG	0.408																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(598-600)atC>atT		erythrocyte membrane protein band 4.1-like 3							115.0	109.0	111.0					18																	5438039		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5438039G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.600C>T	18.37:g.5438039G>A						EPB41L3_ENST00000342933.3_Silent_p.I200I|EPB41L3_ENST00000400111.3_Silent_p.I200I|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Silent_p.I200I|EPB41L3_ENST00000540638.2_Silent_p.I200I	p.I200I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			6	940	-			200			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.600C>T	CCDS11838.1																																																																																				0.408	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		9	36	0	0	0	1	0	9	36				
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3736-3738)gaC>gaT		mitogen-activated protein kinase kinase kinase 15							107.0	107.0	107.0					X																	19379653		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19379653G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3738C>T	X.37:g.19379653G>A						PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000359173.3_Silent_p.D681D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'UTR	p.D1246D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			27	3737	-	Hepatocellular(33;0.183)		1246					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.3738C>T																																																																																					0.403	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		25	137	0	0	0	1	0	25	137				
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51.0	49.0	49.0					4																	9783962		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783962G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	84	1	0	2.0095e-06	1	2.15389e-06	4	84				
DNAH8	1769	broad.mit.edu	37	6	38793961	38793961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:38793961G>A	ENST00000359357.3	+	27	3480	c.3226G>A	c.(3226-3228)Gcc>Acc	p.A1076T	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1293T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1076T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1076					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCCATCGAGGCCAAGGCATG	0.328																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3226-3228)Gcc>Acc		dynein, axonemal, heavy chain 8							72.0	68.0	70.0					6																	38793961		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38793961G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3226G>A	6.37:g.38793961G>A	ENSP00000352312:p.Ala1076Thr					DNAH8_ENST00000449981.2_Missense_Mutation_p.A1293T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1076T	p.A1076T							27	3480	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3226G>A		.	.	.	.	.	.	.	.	.	.	G	3.552	-0.091445	0.07053	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25749	1.8;1.79;1.78	5.19	5.19	0.71726	.	0.471361	0.22708	N	0.056608	T	0.05960	0.0155	N	0.05554	-0.025	0.35216	D	0.775614	B	0.09022	0.002	B	0.09377	0.004	T	0.16988	-1.0384	10	0.12430	T	0.62	.	16.9542	0.86254	0.0:0.0:1.0:0.0	.	1076	Q96JB1	DYH8_HUMAN	T	1281;1281;1076;1076	ENSP00000333363:A1281T;ENSP00000352312:A1076T;ENSP00000402294:A1076T	ENSP00000333363:A1281T	A	+	1	0	DNAH8	38901939	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	5.555000	0.67301	2.452000	0.82932	0.460000	0.39030	GCC		0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	29	0	0	0	1	0	10	29				
RBCK1	10616	broad.mit.edu	37	20	398246	398246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:398246G>A	ENST00000356286.5	+	3	949	c.244G>A	c.(244-246)Gcg>Acg	p.A82T	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.A40T	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	82	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TATGACAGTGGCGTCTCTCAA	0.607																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(244-246)Gcg>Acg		RanBP-type and C3HC4-type zinc finger containing 1							83.0	58.0	66.0					20																	398246		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398246G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.244G>A	20.37:g.398246G>A	ENSP00000348632:p.Ala82Thr					RBCK1_ENST00000353660.3_Missense_Mutation_p.A40T|RBCK1_ENST00000382181.2_5'UTR	p.A82T	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			3	949	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	82			Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.244G>A	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.813049|4.813049	0.90707|0.90707	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243|ENST00000414880	T;T;T;T|.	0.12879|.	2.64;2.64;2.64;2.64|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Ubiquitin supergroup (1);|.	0.123548|.	0.53938|.	D|.	0.000049|.	T|.	0.73489|.	0.3593|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.987;0.926|.	D;P;P|.	0.80764|.	0.994;0.823;0.454|.	T|.	0.73795|.	-0.3870|.	10|.	0.66056|.	D|.	0.02|.	-9.0736|-9.0736	13.6314|13.6314	0.62198|0.62198	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	72;40;82|.	B4E0F5;Q9BYM8-3;Q9BYM8|.	.;.;HOIL1_HUMAN|.	T|X	82;82;81;40;82;123|114	ENSP00000415080:A82T;ENSP00000348632:A82T;ENSP00000387799:A81T;ENSP00000254960:A40T|.	ENSP00000254960:A40T|.	A|W	+|+	1|3	0|0	RBCK1|RBCK1	346246|346246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	7.328000|7.328000	0.79160|0.79160	2.584000|2.584000	0.87258|0.87258	0.455000|0.455000	0.32223|0.32223	GCG|TGG		0.607	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		8	74	0	0	0	1	0	8	74				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	43	1	0	0.115264	1	0.115912	3	43				
SVIL	6840	broad.mit.edu	37	10	29812476	29812476	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:29812476T>C	ENST00000355867.4	-	15	3819	c.3067A>G	c.(3067-3069)Atg>Gtg	p.M1023V	SVIL_ENST00000375400.3_Missense_Mutation_p.M597V|SVIL_ENST00000375398.2_Missense_Mutation_p.M1023V|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1023					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTGCATTCATTTTAGCCATG	0.478																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(3067-3069)Atg>Gtg		supervillin							110.0	107.0	108.0					10																	29812476		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812476T>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3067A>G	10.37:g.29812476T>C	ENSP00000348128:p.Met1023Val					SVIL_ENST00000375400.3_Missense_Mutation_p.M597V|SVIL_ENST00000355867.4_Missense_Mutation_p.M1023V	p.M1023V			O95425	SVIL_HUMAN			17	3516	-		Breast(68;0.103)	1023					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3067A>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	6.729	0.503190	0.12822	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.10382	2.88;2.94;2.94	4.75	4.75	0.60458	.	0.834253	0.11566	N	0.551296	T	0.06462	0.0166	N	0.08118	0	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.34378	-0.9831	9	.	.	.	-0.2815	13.1127	0.59283	0.0:0.0:0.0:1.0	.	597;1023	O95425-2;O95425	.;SVIL_HUMAN	V	597;1023;1023	ENSP00000364549:M597V;ENSP00000364547:M1023V;ENSP00000348128:M1023V	.	M	-	1	0	SVIL	29852482	0.181000	0.23161	0.024000	0.17045	0.005000	0.04900	2.289000	0.43523	1.909000	0.55274	0.455000	0.32223	ATG		0.478	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			15	70	0	0	0	1	0	15	70				
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:123847819C>G	ENST00000531945.1	-	1	669	c.580G>C	c.(580-582)Gac>Cac	p.D194H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567																																						ENST00000531945.1																			1	Substitution - Missense(1)	p.D194N(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(580-582)Gac>Cac		olfactory receptor, family 10, subfamily S, member 1							93.0	76.0	82.0					11																	123847819		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847819C>G	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.580G>C	11.37:g.123847819C>G	ENSP00000431914:p.Asp194His						p.D194H	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	669	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	194					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.580G>C	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.448013	0.43429	.	.	ENSG00000196248	ENST00000531945	T	0.00164	8.64	5.08	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	U	0.000510	T	0.00496	0.0016	M	0.93678	3.445	0.27685	N	0.946308	D	0.53885	0.963	P	0.54460	0.753	T	0.06110	-1.0845	10	0.87932	D	0	-21.1723	13.5941	0.61979	0.0:0.9245:0.0:0.0755	.	194	Q8NGN2	O10S1_HUMAN	H	194	ENSP00000431914:D194H	ENSP00000431914:D194H	D	-	1	0	OR10S1	123353029	0.999000	0.42202	0.998000	0.56505	0.700000	0.40528	2.165000	0.42396	1.379000	0.46325	-0.127000	0.14921	GAC		0.567	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		21	65	0	0	0	1	0	21	65				
PLEKHA4	57664	broad.mit.edu	37	19	49341311	49341311	+	Silent	SNP	C	C	T	rs142246074		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:49341311C>T	ENST00000263265.6	-	19	2595	c.2040G>A	c.(2038-2040)ctG>ctA	p.L680L	HSD17B14_ENST00000263278.4_5'Flank|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G582S|HSD17B14_ENST00000599157.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	680						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCAGTAGCCAGGGCTTGGG	0.557																																						ENST00000355496.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1744-1746)Ggc>Agc		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4			SER/GLY,	0,4406		0,0,2203	80.0	84.0	83.0		1744,2040	1.8	1.0	19	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,coding-synonymous	PLEKHA4	NM_001161354.1,NM_020904.2	56,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	582/584,680/780	49341311	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49341311C>T	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2040G>A	19.37:g.49341311C>T						PLEKHA4_ENST00000263265.6_Silent_p.L680L	p.G582S	NM_001161354.1	NP_001154826.1	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	16	2121	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	0					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1744G>A	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	10.62	1.399942	0.25291	0.0	1.16E-4	ENSG00000105559	ENST00000355496	T	0.15256	2.44	3.97	1.79	0.24919	.	.	.	.	.	T	0.11281	0.0275	.	.	.	0.22947	N	0.998529	B	0.22746	0.074	B	0.18263	0.021	T	0.27226	-1.0080	8	0.52906	T	0.07	.	4.748	0.13047	0.2139:0.6732:0.0:0.1129	.	582	Q9H4M7-2	.	S	582	ENSP00000347683:G582S	ENSP00000347683:G582S	G	-	1	0	PLEKHA4	54033123	1.000000	0.71417	0.993000	0.49108	0.710000	0.40934	1.259000	0.32956	0.466000	0.27193	0.546000	0.68486	GGC		0.557	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			18	103	0	0	0	1	0	18	103				
HRNR	388697	broad.mit.edu	37	1	152192014	152192014	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:152192014C>G	ENST00000368801.2	-	3	2166	c.2091G>C	c.(2089-2091)caG>caC	p.Q697H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	697					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGGAAGACTGGCCTGAGA	0.567																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2089-2091)caG>caC		hornerin							151.0	163.0	159.0					1																	152192014		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192014C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2091G>C	1.37:g.152192014C>G	ENSP00000357791:p.Gln697His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q697H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2166	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		697					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2091G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	3.182	-0.167757	0.06461	.	.	ENSG00000197915	ENST00000368801	T	0.18338	2.22	3.26	-0.0198	0.13958	.	.	.	.	.	T	0.03053	0.0090	N	0.17474	0.49	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.44544	-0.9321	9	0.44086	T	0.13	.	7.2393	0.26088	0.0:0.397:0.4945:0.1085	.	697	Q86YZ3	HORN_HUMAN	H	697	ENSP00000357791:Q697H	ENSP00000357791:Q697H	Q	-	3	2	HRNR	150458638	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-1.502000	0.02279	0.094000	0.17404	-0.667000	0.03836	CAG		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		62	242	0	0	0	1	0	62	242				
PCLO	27445	broad.mit.edu	37	7	82595769	82595769	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:82595769T>A	ENST00000333891.9	-	4	3672	c.3335A>T	c.(3334-3336)cAg>cTg	p.Q1112L	PCLO_ENST00000423517.2_Missense_Mutation_p.Q1112L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTGCTCTCTGGGTTTGGCA	0.388																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3334-3336)cAg>cTg		piccolo presynaptic cytomatrix protein							98.0	97.0	97.0					7																	82595769		1972	4169	6141	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595769T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3335A>T	7.37:g.82595769T>A	ENSP00000334319:p.Gln1112Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.Q1112L	p.Q1112L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3672	-			1051						Missense_Mutation	SNP	ENST00000333891.9	37	c.3335A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464932	0.43839	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.75938	-0.98;-0.98	5.49	3.06	0.35304	.	.	.	.	.	T	0.72574	0.3477	M	0.81802	2.56	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.14023	0.01;0.01	T	0.68503	-0.5391	9	0.87932	D	0	.	7.7436	0.28856	0.1243:0.068:0.0:0.8077	.	1112;1112	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1051;1112;1112	ENSP00000334319:Q1112L;ENSP00000388393:Q1112L	ENSP00000334319:Q1112L	Q	-	2	0	PCLO	82433705	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.813000	0.62620	0.417000	0.25871	-0.376000	0.06991	CAG		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	61	0	0	0	1	0	20	61				
F7	2155	broad.mit.edu	37	13	113773012	113773012	+	Missense_Mutation	SNP	G	G	A	rs121964926	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:113773012G>A	ENST00000375581.3	+	9	1126	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	F7_ENST00000346342.3_Missense_Mutation_p.R342Q|F7_ENST00000541084.1_Missense_Mutation_p.R295Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> Q (in FA7D; Harrow/Padua; dbSNP:rs121964926). {ECO:0000269|PubMed:1634227, ECO:0000269|PubMed:18976247, ECO:0000269|PubMed:2070047, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8844208}.|R -> W (in FA7D). {ECO:0000269|PubMed:18976247}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACGTGCCCCGGCTGATGACC	0.637													G|||	12	0.00239617	0.0091	0.0	5008	,	,		17246	0.0		0.0	False		,,,				2504	0.0					ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM910116	F7	M	rs121964926	c.(1090-1092)cGg>cAg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	G	GLN/ARG,GLN/ARG	16,4388	22.3+/-47.3	0,16,2186	33.0	31.0	32.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1091,1025	3.6	0.8	13	dbSNP_133	32	0,8598		0,0,4299	yes	missense,missense	F7	NM_000131.3,NM_019616.2	43,43	0,16,6485	AA,AG,GG		0.0,0.3633,0.1231	probably-damaging,probably-damaging	364/467,342/445	113773012	16,12986	2202	4299	6501	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773012G>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1091G>A	13.37:g.113773012G>A	ENSP00000364731:p.Arg364Gln					F7_ENST00000346342.3_Missense_Mutation_p.R342Q|F7_ENST00000541084.1_Missense_Mutation_p.R295Q	p.R364Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1126	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	364		R -> Q (in FA7D; Harrow/Padua).|R -> W (in FA7D).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1091G>A	CCDS9528.1	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	14.26	2.483059	0.44147	0.003633	0.0	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88431	-2.38;-2.38;-2.38	4.41	3.57	0.40892	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.070861	0.56097	D	0.000032	D	0.82852	0.5127	L	0.31926	0.97	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.996	T	0.82596	-0.0379	10	0.19590	T	0.45	.	12.3763	0.55281	0.0815:0.0:0.9185:0.0	.	295;342;364	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	Q	342;295;364	ENSP00000329546:R342Q;ENSP00000442051:R295Q;ENSP00000364731:R364Q	ENSP00000329546:R342Q	R	+	2	0	F7	112821013	0.997000	0.39634	0.768000	0.31515	0.017000	0.09413	7.129000	0.77225	1.075000	0.40932	-0.373000	0.07131	CGG		0.637	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		6	37	0	0	0	1	0	6	37				
KYNU	8942	broad.mit.edu	37	2	143713795	143713795	+	Silent	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:143713795A>G	ENST00000264170.4	+	6	717	c.459A>G	c.(457-459)ccA>ccG	p.P153P	KYNU_ENST00000409512.1_Silent_p.P153P|KYNU_ENST00000375773.2_Silent_p.P153P	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGCCTACGCCAAAACGATATA	0.308																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(457-459)ccA>ccG		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						92.0	93.0	92.0					2																	143713795		2203	4299	6502	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143713795A>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.459A>G	2.37:g.143713795A>G						KYNU_ENST00000409512.1_Silent_p.P153P|KYNU_ENST00000375773.2_Silent_p.P153P	p.P153P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	6	717	+			153						Silent	SNP	ENST00000264170.4	37	c.459A>G	CCDS2183.1																																																																																				0.308	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		4	24	0	0	0	1	0	4	24				
ARPC3	10094	broad.mit.edu	37	12	110874930	110874930	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:110874930T>C	ENST00000228825.7	-	4	357	c.211A>G	c.(211-213)Ata>Gta	p.I71V	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	71					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			lung(1)|ovary(1)	2						TAGAGAGTTATATATATCAAG	0.333																																						ENST00000228825.7																			0				lung(1)|ovary(1)	2						c.(211-213)Ata>Gta		actin related protein 2/3 complex, subunit 3, 21kDa							75.0	73.0	74.0					12																	110874930		2203	4298	6501	SO:0001583	missense	10094				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr12:110874930T>C	AF006086	CCDS9146.1	12q24	2011-07-06	2002-08-29		ENSG00000111229	ENSG00000111229		"""Actin related protein 2/3 complex subunits"""	706	protein-coding gene	gene with protein product		604225	"""actin related protein 2/3 complex, subunit 3 (21 kD)"""			9230079, 9359840	Standard	NM_001278556		Approved	p21-Arc, ARC21	uc001tqq.3	O15145	OTTHUMG00000134333	ENST00000228825.7:c.211A>G	12.37:g.110874930T>C	ENSP00000228825:p.Ile71Val					RP11-478C19.2_ENST00000550231.1_RNA	p.I71V	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN			4	357	-			71					O00554	Missense_Mutation	SNP	ENST00000228825.7	37	c.211A>G	CCDS9146.1	.	.	.	.	.	.	.	.	.	.	T	3.850	-0.031955	0.07543	.	.	ENSG00000111229	ENST00000228825;ENST00000392683;ENST00000426440;ENST00000547365	.	.	.	6.01	3.69	0.42338	.	0.124999	0.64402	N	0.000001	T	0.38241	0.1033	N	0.13235	0.315	0.49213	D	0.999762	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	9	0.87932	D	0	.	9.03	0.36254	0.0:0.2428:0.0:0.7572	.	71	O15145	ARPC3_HUMAN	V	71;71;71;63	.	ENSP00000228825:I71V	I	-	1	0	ARPC3	109359313	0.998000	0.40836	0.998000	0.56505	0.961000	0.63080	1.195000	0.32186	1.098000	0.41479	0.528000	0.53228	ATA		0.333	ARPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259487.2			4	42	0	0	0	1	0	4	42				
HIST1H2AM	8336	broad.mit.edu	37	6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572																																						ENST00000359611.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(4-6)tCt>tGt		histone cluster 1, H2am							37.0	38.0	38.0					6																	27860923		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860923G>C	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.5C>G	6.37:g.27860923G>C	ENSP00000352627:p.Ser2Cys						p.S2C	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN			1	40	-			2					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.5C>G	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114462	0.20795	.	.	ENSG00000233224	ENST00000359611	D	0.92965	-3.14	3.92	3.92	0.45320	.	0.000000	0.30329	U	0.009878	D	0.97185	0.9080	H	0.98612	4.28	0.23050	N	0.998373	.	.	.	.	.	.	D	0.91636	0.5323	8	0.87932	D	0	.	15.7198	0.77700	0.0:0.0:1.0:0.0	.	.	.	.	C	2	ENSP00000352627:S2C	ENSP00000352627:S2C	S	-	2	0	HIST1H2AM	27968902	0.999000	0.42202	1.000000	0.80357	0.724000	0.41520	2.754000	0.47532	2.475000	0.83589	0.561000	0.74099	TCT		0.572	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		5	67	0	0	0	1	0	5	67				
H2BFWT	158983	broad.mit.edu	37	X	103267972	103267972	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:103267972C>T	ENST00000217926.5	-	1	287	c.261G>A	c.(259-261)cgG>cgA	p.R87R	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	87			R -> W (in dbSNP:rs17332043).			membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GCTTCAGCACCCGGCGGAAAT	0.632																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(259-261)cgG>cgA		H2B histone family, member W, testis-specific							46.0	43.0	44.0					X																	103267972		2203	4300	6503	SO:0001819	synonymous_variant	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267972C>T	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.261G>A	X.37:g.103267972C>T							p.R87R	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	287	-			87		R -> W (in dbSNP:rs17332043).			B1AK72|Q147W3	Silent	SNP	ENST00000217926.5	37	c.261G>A	CCDS35362.1																																																																																				0.632	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		17	94	0	0	0	1	0	17	94				
LAMB2	3913	broad.mit.edu	37	3	49159484	49159484	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:49159484T>C	ENST00000418109.1	-	30	4980	c.4816A>G	c.(4816-4818)Aca>Gca	p.T1606A	USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398898.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.T1606A|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1606	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTGTACTGTCTCTGCCTTC	0.617																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4816-4818)Aca>Gca		laminin, beta 2 (laminin S)							65.0	60.0	61.0					3																	49159484		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49159484T>C		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4816A>G	3.37:g.49159484T>C	ENSP00000388325:p.Thr1606Ala					LAMB2_ENST00000305544.4_Missense_Mutation_p.T1606A	p.T1606A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	30	4980	-			1606			Domain I.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4816A>G	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	4.033	0.003725	0.07866	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.32988	1.43;1.43	5.55	4.38	0.52667	.	0.585375	0.17693	N	0.165199	T	0.15392	0.0371	N	0.16368	0.405	0.24718	N	0.993161	B	0.06786	0.001	B	0.04013	0.001	T	0.20974	-1.0259	9	.	.	.	.	3.6612	0.08240	0.1617:0.1775:0.0:0.6608	.	1606	P55268	LAMB2_HUMAN	A	1606	ENSP00000388325:T1606A;ENSP00000307156:T1606A	.	T	-	1	0	LAMB2	49134488	0.153000	0.22777	0.996000	0.52242	0.988000	0.76386	1.438000	0.35002	0.941000	0.37499	0.533000	0.62120	ACA		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		16	56	0	0	0	1	0	16	56				
MYH13	8735	broad.mit.edu	37	17	10258301	10258301	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:10258301T>C	ENST00000418404.3	-	9	975	c.812A>G	c.(811-813)gAa>gGa	p.E271G	MYH13_ENST00000252172.4_Missense_Mutation_p.E271G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	271	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGGATTTTTCTAACAGATC	0.373																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(811-813)gAa>gGa		myosin, heavy chain 13, skeletal muscle							71.0	70.0	70.0					17																	10258301		1843	4089	5932	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10258301T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.812A>G	17.37:g.10258301T>C	ENSP00000404570:p.Glu271Gly					MYH13_ENST00000252172.4_Missense_Mutation_p.E271G|MYH13_ENST00000570743.1_Missense_Mutation_p.E271G	p.E271G			Q9UKX3	MYH13_HUMAN			9	975	-			271			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.812A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196261	0.78902	.	.	ENSG00000006788	ENST00000252172	D	0.83250	-1.7	3.58	3.58	0.41010	Myosin head, motor domain (2);	.	.	.	.	D	0.95133	0.8423	H	0.99855	4.85	0.46631	D	0.999139	D	0.89917	1.0	D	0.97110	1.0	D	0.96304	0.9223	9	0.87932	D	0	.	12.6282	0.56642	0.0:0.0:0.0:1.0	.	271	Q9UKX3	MYH13_HUMAN	G	271	ENSP00000252172:E271G	ENSP00000252172:E271G	E	-	2	0	MYH13	10199026	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.668000	0.83897	1.636000	0.50526	0.459000	0.35465	GAA		0.373	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		5	25	0	0	0	1	0	5	25				
KRT26	353288	broad.mit.edu	37	17	38922789	38922789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:38922789C>T	ENST00000335552.4	-	8	1433	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGAAGGTACTCGTTGCTCTAC	0.383																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(1384-1386)cGa>cAa		keratin 26							157.0	154.0	155.0					17																	38922789		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38922789C>T	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.1385G>A	17.37:g.38922789C>T	ENSP00000334798:p.Arg462Gln						p.R462Q	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			8	1433	-		Breast(137;0.00526)	462			Tail.			Missense_Mutation	SNP	ENST00000335552.4	37	c.1385G>A	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580929	0.86748	.	.	ENSG00000186393	ENST00000335552	D	0.82433	-1.61	5.49	5.49	0.81192	.	0.126644	0.34906	N	0.003598	D	0.86414	0.5927	M	0.77103	2.36	0.09310	N	0.999995	D	0.59357	0.985	P	0.48795	0.59	T	0.82478	-0.0437	10	0.72032	D	0.01	.	14.8709	0.70456	0.0:1.0:0.0:0.0	.	462	Q7Z3Y9	K1C26_HUMAN	Q	462	ENSP00000334798:R462Q	ENSP00000334798:R462Q	R	-	2	0	KRT26	36176315	0.167000	0.22975	0.203000	0.23512	0.270000	0.26580	1.385000	0.34408	2.586000	0.87340	0.655000	0.94253	CGA		0.383	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		13	56	0	0	0	1	0	13	56				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			10	122	0	0	0	1	0	10	122				
CNTN3	5067	broad.mit.edu	37	3	74350566	74350566	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:74350566A>T	ENST00000263665.6	-	15	2105	c.2078T>A	c.(2077-2079)gTa>gAa	p.V693E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	693	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCAGTTCTTACTTTTTCTGA	0.423																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2077-2079)gTa>gAa		contactin 3 (plasmacytoma associated)							125.0	125.0	125.0					3																	74350566		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350566A>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2078T>A	3.37:g.74350566A>T	ENSP00000263665:p.Val693Glu						p.V693E	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2105	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	693			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2078T>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716733	0.68844	.	.	ENSG00000113805	ENST00000263665	T	0.57273	0.41	6.08	6.08	0.98989	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.116521	0.64402	D	0.000014	T	0.63224	0.2493	M	0.86953	2.85	0.41878	D	0.990306	B	0.29253	0.239	B	0.37601	0.254	T	0.65001	-0.6274	10	0.44086	T	0.13	.	12.4913	0.55901	0.8608:0.1392:0.0:0.0	.	693	Q9P232	CNTN3_HUMAN	E	693	ENSP00000263665:V693E	ENSP00000263665:V693E	V	-	2	0	CNTN3	74433256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	2.333000	0.79357	0.482000	0.46254	GTA		0.423	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		16	57	0	0	0	1	0	16	57				
BCO2	83875	broad.mit.edu	37	11	112087036	112087036	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:112087036G>A	ENST00000357685.5	+	11	1744	c.1609G>A	c.(1609-1611)Gtg>Atg	p.V537M	BCO2_ENST00000531169.1_Missense_Mutation_p.V503M|BCO2_ENST00000438022.1_Missense_Mutation_p.V503M|BCO2_ENST00000361053.4_Missense_Mutation_p.V464M|BCO2_ENST00000526088.1_Missense_Mutation_p.V497M|BCO2_ENST00000393032.2_Missense_Mutation_p.V503M|BCO2_ENST00000532593.1_Missense_Mutation_p.V432M			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	537					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTTTCTGTGGTGATCACTCC	0.433																																					GBM(177;1916 2099 21049 29541 39946)	ENST00000357685.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						c.(1609-1611)Gtg>Atg		beta-carotene oxygenase 2							152.0	145.0	148.0					11																	112087036		2201	4297	6498	SO:0001583	missense	83875				carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:112087036G>A	AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1609G>A	11.37:g.112087036G>A	ENSP00000350314:p.Val537Met					BCO2_ENST00000361053.4_Missense_Mutation_p.V464M|BCO2_ENST00000393032.2_Missense_Mutation_p.V503M|BCO2_ENST00000526088.1_Missense_Mutation_p.V497M|BCO2_ENST00000532593.1_Missense_Mutation_p.V432M|BCO2_ENST00000438022.1_Missense_Mutation_p.V503M|BCO2_ENST00000531169.1_Missense_Mutation_p.V503M	p.V537M			Q9BYV7	BCDO2_HUMAN			11	1744	+			537					B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	ENST00000357685.5	37	c.1609G>A	CCDS8358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.665896|4.665896	0.88251|0.88251	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000525175|ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	.|D;D;D;D;D;D;D	.|0.96716	.|-4.1;-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.056436	.|0.64402	.|D	.|0.000001	D|D	0.97288|0.97288	0.9113|0.9113	L|L	0.51914|0.51914	1.62|1.62	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.85130	.|0.993;0.997;0.995	D|D	0.96970|0.96970	0.9708|0.9708	5|10	.|0.40728	.|T	.|0.16	-12.2934|-12.2934	17.8118|17.8118	0.88619|0.88619	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|508;464;537	.|C9JEZ9;E9PBI8;Q9BYV7	.|.;.;BCDO2_HUMAN	D|M	71|537;503;464;503;497;432;503	.|ENSP00000350314:V537M;ENSP00000376752:V503M;ENSP00000354338:V464M;ENSP00000414843:V503M;ENSP00000436615:V497M;ENSP00000431802:V432M;ENSP00000437053:V503M	.|ENSP00000350314:V537M	G|V	+|+	2|1	0|0	BCO2|BCO2	111592246|111592246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.565000|3.565000	0.53798|0.53798	2.568000|2.568000	0.86640|0.86640	0.650000|0.650000	0.86243|0.86243	GGT|GTG		0.433	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256570.3	NM_001037290		16	27	0	0	0	1	0	16	27				
FBXO41	150726	broad.mit.edu	37	2	73492756	73492756	+	Silent	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:73492756A>G	ENST00000521871.1	-	5	1633	c.1218T>C	c.(1216-1218)cgT>cgC	p.R406R	FBXO41_ENST00000520530.2_Silent_p.R406R|FBXO41_ENST00000295133.5_Silent_p.R467R			Q8TF61	FBX41_HUMAN	F-box protein 41	406										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CGGCTGGCACACGGCTGGAGG	0.662																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1216-1218)cgT>cgC		F-box protein 41							8.0	9.0	9.0					2																	73492756		1992	4109	6101	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73492756A>G	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1218T>C	2.37:g.73492756A>G						FBXO41_ENST00000520530.2_Silent_p.R406R|FBXO41_ENST00000295133.5_Silent_p.R467R	p.R406R			Q8TF61	FBX41_HUMAN			5	1633	-			406					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.1218T>C	CCDS46337.2																																																																																				0.662	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			4	12	0	0	0	1	0	4	12				
C17orf74	201243	broad.mit.edu	37	17	7330595	7330595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:7330595C>T	ENST00000333870.3	+	3	1359	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	429						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TTCCTCCCAGCCCTGGCCCAA	0.642																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1285-1287)Ccc>Tcc		chromosome 17 open reading frame 74							60.0	69.0	66.0					17																	7330595		2058	4197	6255	SO:0001583	missense	201243					integral to membrane		g.chr17:7330595C>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1285C>T	17.37:g.7330595C>T	ENSP00000328061:p.Pro429Ser					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	p.P429S	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1359	+		Prostate(122;0.157)	429						Missense_Mutation	SNP	ENST00000333870.3	37	c.1285C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935180	0.34189	.	.	ENSG00000184560	ENST00000333870	T	0.36520	1.25	5.11	4.13	0.48395	.	0.956082	0.08496	N	0.937154	T	0.25791	0.0628	N	0.24115	0.695	0.80722	D	1	B	0.33318	0.408	B	0.30105	0.111	T	0.02109	-1.1212	10	0.35671	T	0.21	-9.9135	10.2332	0.43266	0.0:0.9056:0.0:0.0944	.	429	Q0P670	CQ074_HUMAN	S	429	ENSP00000328061:P429S	ENSP00000328061:P429S	P	+	1	0	C17orf74	7271319	0.921000	0.31238	0.867000	0.34043	0.005000	0.04900	1.881000	0.39638	1.271000	0.44313	0.491000	0.48974	CCC		0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		13	41	0	0	0	1	0	13	41				
ARID3A	1820	broad.mit.edu	37	19	929709	929709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:929709G>A	ENST00000263620.3	+	2	508	c.181G>A	c.(181-183)Gca>Aca	p.A61T	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	61						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGATGGCCGCACTGGCAGC	0.771																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(181-183)Gca>Aca		AT rich interactive domain 3A (BRIGHT-like)							3.0	4.0	4.0					19																	929709		1537	3420	4957	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:929709G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.181G>A	19.37:g.929709G>A	ENSP00000263620:p.Ala61Thr						p.A61T	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	508	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	61					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.181G>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425406	0.25639	.	.	ENSG00000116017	ENST00000263620	T	0.49139	0.79	3.4	2.31	0.28768	.	0.857712	0.10107	N	0.715201	T	0.49490	0.1560	L	0.32530	0.975	0.21967	N	0.999447	D	0.71674	0.998	P	0.54629	0.757	T	0.39663	-0.9603	10	0.72032	D	0.01	-11.4841	10.4044	0.44248	0.0:0.0:0.8028:0.1972	.	61	Q99856	ARI3A_HUMAN	T	61	ENSP00000263620:A61T	ENSP00000263620:A61T	A	+	1	0	ARID3A	880709	0.998000	0.40836	0.015000	0.15790	0.022000	0.10575	4.298000	0.59067	0.615000	0.30124	0.485000	0.47835	GCA		0.771	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		4	10	0	0	0	1	0	4	10				
UNC13C	440279	broad.mit.edu	37	15	54435232	54435232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:54435232G>T	ENST00000260323.11	+	2	3001	c.3001G>T	c.(3001-3003)Gaa>Taa	p.E1001*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1001*|UNC13C_ENST00000545554.1_Intron	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1001					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTGTGGATGAAAAGGTTTT	0.323																																						ENST00000537900.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3001-3003)Gaa>Taa		unc-13 homolog C (C. elegans)							164.0	158.0	160.0					15																	54435232		1821	4086	5907	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54435232G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3001G>T	15.37:g.54435232G>T	ENSP00000260323:p.Glu1001*					UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1001*	p.E1001*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	2	3001	+			1001					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.3001G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	42	9.412843	0.99163	.	.	ENSG00000137766	ENST00000260323;ENST00000537900	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.515	0.90933	0.0:0.0:1.0:0.0	.	.	.	.	X	1001	.	ENSP00000260323:E1001X	E	+	1	0	UNC13C	52222524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.556000	0.73932	2.624000	0.88883	0.585000	0.79938	GAA		0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	58	1	0	0.000978159	1	0.00101797	11	58				
PTPRH	5794	broad.mit.edu	37	19	55708511	55708511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:55708511G>T	ENST00000376350.3	-	9	1986	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.S477Y	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	655	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTCTGCGTGGAACTGGCTAC	0.552																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1963-1965)tCc>tAc		protein tyrosine phosphatase, receptor type, H							130.0	101.0	111.0					19																	55708511		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708511G>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1964C>A	19.37:g.55708511G>T	ENSP00000365528:p.Ser655Tyr					PTPRH_ENST00000263434.5_Missense_Mutation_p.S477Y|PTPRH_ENST00000588559.1_5'UTR	p.S655Y	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1986	-		Renal(1328;0.245)	655			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1964C>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617365	0.14129	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.07908	3.15;4.13	5.24	-1.64	0.08318	Fibronectin, type III (3);	2.230900	0.02236	N	0.065333	T	0.06917	0.0176	L	0.29908	0.895	0.09310	N	1	B;B;P	0.42248	0.234;0.196;0.774	B;B;P	0.44897	0.178;0.222;0.463	T	0.30208	-0.9986	10	0.06365	T	0.9	.	3.3987	0.07315	0.087:0.1324:0.3734:0.4072	.	477;477;655	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	Y	655;477	ENSP00000365528:S655Y;ENSP00000263434:S477Y	ENSP00000263434:S477Y	S	-	2	0	PTPRH	60400323	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.029000	0.12329	-0.281000	0.09141	-0.181000	0.13052	TCC		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			17	38	1	0	3.99206e-14	1	4.76385e-14	17	38				
SSTR1	6751	broad.mit.edu	37	14	38679517	38679517	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:38679517C>G	ENST00000267377.2	+	3	1540	c.923C>G	c.(922-924)tCg>tGg	p.S308W		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	308					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AGTCAGCTGTCGGTCATCCTC	0.552																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(922-924)tCg>tGg		somatostatin receptor 1	Octreotide(DB00104)						149.0	129.0	136.0					14																	38679517		2203	4300	6503	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679517C>G		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.923C>G	14.37:g.38679517C>G	ENSP00000267377:p.Ser308Trp						p.S308W	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1540	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		308						Missense_Mutation	SNP	ENST00000267377.2	37	c.923C>G	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374936	0.61735	.	.	ENSG00000139874	ENST00000267377	T	0.72835	-0.69	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.114638	0.37261	N	0.002178	D	0.86276	0.5894	M	0.90425	3.115	0.80722	D	1	D	0.64830	0.994	D	0.65443	0.935	D	0.89361	0.3668	10	0.87932	D	0	.	17.0667	0.86561	0.0:1.0:0.0:0.0	.	308	P30872	SSR1_HUMAN	W	308	ENSP00000267377:S308W	ENSP00000267377:S308W	S	+	2	0	SSTR1	37749268	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.302000	0.65733	2.514000	0.84764	0.561000	0.74099	TCG		0.552	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			24	87	0	0	0	1	0	24	87				
P4HA2	8974	broad.mit.edu	37	5	131531174	131531174	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:131531174C>A	ENST00000401867.1	-	14	1940		c.e14-1		P4HA2_ENST00000379086.1_Splice_Site|P4HA2_ENST00000166534.4_Splice_Site|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000360568.3_Splice_Site|P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000379100.2_Splice_Site			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II						peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CATCACTCATCTGGAAATATA	0.488																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.e14-1		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						109.0	101.0	104.0					5																	131531174		2203	4300	6503	SO:0001630	splice_region_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131531174C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1372-1G>T	5.37:g.131531174C>A						P4HA2_ENST00000379100.2_Splice_Site|P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000360568.3_Splice_Site|P4HA2_ENST00000166534.4_Splice_Site|P4HA2_ENST00000379086.1_Splice_Site				O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	1940	-		all_cancers(142;0.103)|Breast(839;0.198)						D3DQ85|D3DQ86|Q8WWN0	Splice_Site	SNP	ENST00000401867.1	37		CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429972	0.83776	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	P4HA2	131559073	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.298000	0.78815	2.716000	0.92895	0.655000	0.94253	.		0.488	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199	Intron	5	32	1	0	4.096e-09	1	4.61122e-09	5	32				
XKR7	343702	broad.mit.edu	37	20	30585199	30585199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:30585199G>A	ENST00000562532.2	+	3	1853	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	560						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCACGCCCCGGTTGCAGTAC	0.592																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1678-1680)cGg>cAg		XK, Kell blood group complex subunit-related family, member 7							47.0	50.0	49.0					20																	30585199		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30585199G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1679G>A	20.37:g.30585199G>A	ENSP00000477059:p.Arg560Gln						p.R560Q	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1853	+			560					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1679G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.880009	0.51801	.	.	ENSG00000101321	ENST00000217299	.	.	.	5.0	5.0	0.66597	.	0.061465	0.64402	D	0.000005	T	0.51483	0.1677	M	0.67397	2.05	0.38010	D	0.934508	P	0.43662	0.814	B	0.29267	0.1	T	0.64145	-0.6476	9	0.42905	T	0.14	-2.7952	17.0243	0.86441	0.0:0.0:1.0:0.0	.	560	Q5GH72	XKR7_HUMAN	Q	560	.	ENSP00000217299:R560Q	R	+	2	0	XKR7	30048860	0.553000	0.26513	0.807000	0.32361	0.945000	0.59286	3.350000	0.52224	2.599000	0.87857	0.561000	0.74099	CGG		0.592	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		23	89	0	0	0	1	0	23	89				
ASTN1	460	broad.mit.edu	37	1	176983983	176983983	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:176983983C>G	ENST00000367654.3	-	8	1702	c.1491G>C	c.(1489-1491)atG>atC	p.M497I	ASTN1_ENST00000424564.2_Missense_Mutation_p.M489I|ASTN1_ENST00000367657.3_Missense_Mutation_p.M489I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M489I|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	497	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGATCCTTCATGTAGCCTT	0.448																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1489-1491)atG>atC		astrotactin 1							405.0	351.0	369.0					1																	176983983		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176983983C>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1491G>C	1.37:g.176983983C>G	ENSP00000356626:p.Met497Ile					ASTN1_ENST00000367657.3_Missense_Mutation_p.M489I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M489I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M489I	p.M497I			O14525	ASTN1_HUMAN			8	1504	-			497			EGF-like 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1491G>C		.	.	.	.	.	.	.	.	.	.	C	29.0	4.965941	0.92855	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.86694	-2.16;-2.16;2.95;-2.16	5.67	5.67	0.87782	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	N	0.24115	0.695	0.80722	D	1	P;P;P	0.44281	0.831;0.656;0.656	P;P;P	0.54664	0.758;0.679;0.679	D	0.87168	0.2219	10	0.42905	T	0.14	-34.9662	19.3774	0.94517	0.0:1.0:0.0:0.0	.	497;489;489	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	I	489;489;497;489;489	ENSP00000356629:M489I;ENSP00000354536:M489I;ENSP00000356626:M497I;ENSP00000395041:M489I	ENSP00000354536:M489I	M	-	3	0	ASTN1	175250606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.429000	0.66495	2.677000	0.91161	0.561000	0.74099	ATG		0.448	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		75	279	0	0	0	1	0	75	279				
USP11	8237	broad.mit.edu	37	X	47102104	47102104	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:47102104G>A	ENST00000218348.3	+	12	1697	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H	USP11_ENST00000377107.2_Missense_Mutation_p.R523H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	566	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATCTTGGACCGTGATGATATC	0.507																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1567-1569)cGt>cAt		ubiquitin specific peptidase 11							138.0	115.0	123.0					X																	47102104		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47102104G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1697G>A	X.37:g.47102104G>A	ENSP00000218348:p.Arg566His					USP11_ENST00000218348.3_Missense_Mutation_p.R566H	p.R523H			P51784	UBP11_HUMAN			12	1922	+			566					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1568G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942017	0.73557	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.23147	1.93;1.92	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000002	T	0.48295	0.1492	L	0.56199	1.76	0.58432	D	0.999994	P;D	0.89917	0.954;1.0	P;D	0.91635	0.701;0.999	T	0.47522	-0.9111	10	0.87932	D	0	-8.263	17.0772	0.86589	0.0:0.0:1.0:0.0	.	293;566	B3KP28;P51784	.;UBP11_HUMAN	H	523;566	ENSP00000366311:R523H;ENSP00000218348:R566H	ENSP00000218348:R566H	R	+	2	0	USP11	46987048	0.035000	0.19736	0.890000	0.34922	0.582000	0.36321	1.915000	0.39976	2.297000	0.77311	0.409000	0.27619	CGT		0.507	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		19	56	0	0	0	1	0	19	56				
TNFRSF11A	8792	broad.mit.edu	37	18	60051996	60051996	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr18:60051996G>C	ENST00000586569.1	+	10	1618	c.1580G>C	c.(1579-1581)gGa>gCa	p.G527A	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.G210A	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	527					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AATGTGACTGGAAACAGTAAC	0.627																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1579-1581)gGa>gCa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							43.0	34.0	37.0					18																	60051996		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60051996G>C	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1580G>C	18.37:g.60051996G>C	ENSP00000465500:p.Gly527Ala					TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.G210A	p.G527A	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			10	1618	+		Colorectal(73;0.188)	527					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.1580G>C	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610773	0.87258	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	.	.	.	4.8	4.8	0.61643	.	0.938409	0.08742	N	0.900350	T	0.79405	0.4440	M	0.66939	2.045	0.47094	D	0.999318	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72874	-0.4160	8	.	.	.	-12.096	16.1063	0.81225	0.0:0.0:1.0:0.0	.	232;527	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	A	232;527	.	.	G	+	2	0	TNFRSF11A	58202976	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.711000	0.91396	2.219000	0.72066	0.449000	0.29647	GGA		0.627	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			4	14	0	0	0	1	0	4	14				
PGPEP1	54858	broad.mit.edu	37	19	18468195	18468195	+	Silent	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:18468195G>C	ENST00000269919.6	+	4	302	c.207G>C	c.(205-207)ctG>ctC	p.L69L	PGPEP1_ENST00000604499.2_Silent_p.L69L|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000597431.2_Intron|PGPEP1_ENST00000595066.1_Silent_p.L69L	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	69						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)										GTGTGCAGCTGGTGGTGCATG	0.592																																						ENST00000269919.5																			0											c.(205-207)ctG>ctC		pyroglutamyl-peptidase I							68.0	46.0	53.0					19																	18468195		2203	4300	6503	SO:0001819	synonymous_variant	54858						cysteine-type peptidase activity	g.chr19:18468195G>C	AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"""pyroglutamyl aminopeptidase"""	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.207G>C	19.37:g.18468195G>C						PGPEP1_ENST00000604499.1_Silent_p.L69L|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000595066.1_Silent_p.L69L|PGPEP1_ENST00000595552.1_Intron	p.L69L	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN			4	302	+			69					A8K1Q3|Q8IVT1	Silent	SNP	ENST00000269919.6	37	c.207G>C	CCDS12375.1																																																																																				0.592	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3	NM_017712		7	24	0	0	0	1	0	7	24				
KNTC1	9735	broad.mit.edu	37	12	123067338	123067338	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:123067338C>T	ENST00000333479.7	+	34	3246	c.3069C>T	c.(3067-3069)caC>caT	p.H1023H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1023					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAAAGCTCACGAAGTTGCAC	0.493																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3067-3069)caC>caT		kinetochore associated 1							47.0	46.0	46.0					12																	123067338		1913	4132	6045	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123067338C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3069C>T	12.37:g.123067338C>T						KNTC1_ENST00000450485.2_Intron	p.H1023H	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	34	3246	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1023					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.3069C>T	CCDS45002.1																																																																																				0.493	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	25	0	0	0	1	0	5	25				
TP63	8626	broad.mit.edu	37	3	189582020	189582020	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:189582020G>T	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.e5-1		tumor protein p63							173.0	181.0	178.0					3																	189582020		2203	4300	6503	SO:0001630	splice_region_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582020G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.580-1G>T	3.37:g.189582020G>T		HNSCC(45;0.13)				TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000354600.5_Splice_Site		NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	668	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)							O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Splice_Site	SNP	ENST00000264731.3	37		CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606075	0.87157	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4235	0.90600	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TP63	191064714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.768000	0.98965	2.663000	0.90544	0.655000	0.94253	.		0.458	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	Intron	89	169	1	0	9.27813e-46	1	1.13752e-45	89	169				
OR52I2	143502	broad.mit.edu	37	11	4608934	4608934	+	Missense_Mutation	SNP	G	G	A	rs149646629		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:4608934G>A	ENST00000312614.4	+	1	914	c.892G>A	c.(892-894)Gta>Ata	p.V298I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGCAGGATGTAGTGCCCTT	0.522																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(892-894)Gta>Ata		olfactory receptor, family 52, subfamily I, member 2		A	ILE/VAL	1,4401	825.8+/-416.5	0,1,2200	219.0	202.0	208.0		892	-8.1	0.0	11	dbSNP_134	208	1,8595	819.0+/-406.8	0,1,4297	no	missense	OR52I2	NM_001005170.2	29	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	benign	298/351	4608934	2,12996	2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608934G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.892G>A	11.37:g.4608934G>A	ENSP00000308764:p.Val298Ile						p.V298I	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	914	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	298					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.892G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.396421	0.00198	2.27E-4	1.16E-4	ENSG00000226288	ENST00000312614	T	0.71817	-0.6	4.03	-8.05	0.01106	GPCR, rhodopsin-like superfamily (1);	2.848800	0.01234	N	0.008454	T	0.36138	0.0956	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38265	-0.9669	10	0.19147	T	0.46	8.0731	1.7158	0.02901	0.4325:0.0978:0.2774:0.1923	.	298	Q8NH67	O52I2_HUMAN	I	298	ENSP00000308764:V298I	ENSP00000308764:V298I	V	+	1	0	OR52I2	4565510	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.049000	0.03514	-2.335000	0.00629	-3.074000	0.00066	GTA		0.522	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		41	112	0	0	0	1	0	41	112				
MYO5A	4644	broad.mit.edu	37	15	52668694	52668694	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:52668694T>A	ENST00000399231.3	-	19	2513	c.2270A>T	c.(2269-2271)tAt>tTt	p.Y757F	MYO5A_ENST00000358212.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000553916.1_Missense_Mutation_p.Y757F|MYO5A_ENST00000356338.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000399233.2_Missense_Mutation_p.Y757F	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	757	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTTTTCTAGATAGGCCACTTG	0.438																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2269-2271)tAt>tTt		myosin VA (heavy chain 12, myoxin)							80.0	72.0	75.0					15																	52668694		1878	4127	6005	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52668694T>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2270A>T	15.37:g.52668694T>A	ENSP00000382177:p.Tyr757Phe					MYO5A_ENST00000553916.1_Missense_Mutation_p.Y757F|MYO5A_ENST00000356338.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000358212.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000399233.2_Missense_Mutation_p.Y757F	p.Y757F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	19	2513	-			757			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2270A>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509380	0.64522	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.64	5.64	0.86602	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	L	0.52364	1.645	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.15052	0.012;0.011	D	0.88831	0.3305	10	0.40728	T	0.16	.	16.0238	0.80522	0.0:0.0:0.0:1.0	.	757;757	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	F	757;291;757;757;757;387;757	ENSP00000382177:Y757F;ENSP00000382179:Y757F;ENSP00000348693:Y757F;ENSP00000350945:Y757F;ENSP00000451109:Y757F	ENSP00000348693:Y757F	Y	-	2	0	MYO5A	50455986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.815000	0.69215	2.367000	0.80283	0.528000	0.53228	TAT		0.438	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		14	50	0	0	0	1	0	14	50				
ATXN2	6311	broad.mit.edu	37	12	111893958	111893958	+	Missense_Mutation	SNP	G	G	A	rs372267174		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:111893958G>A	ENST00000377617.3	-	23	3780	c.3619C>T	c.(3619-3621)Cct>Tct	p.P1207S	ATXN2_ENST00000389153.4_Missense_Mutation_p.P944S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P942S|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000608853.1_Missense_Mutation_p.P1047S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P900S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1207					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAGGCAGGTGTCATGGAG	0.592																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3619-3621)Cct>Tct		ataxin 2		G	SER/PRO	0,4406		0,0,2203	320.0	280.0	293.0		3619	5.9	1.0	12		293	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATXN2	NM_002973.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1207/1314	111893958	1,13005	2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111893958G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3619C>T	12.37:g.111893958G>A	ENSP00000366843:p.Pro1207Ser					ATXN2_ENST00000542287.2_Missense_Mutation_p.P942S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P944S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P900S|ATXN2_ENST00000550104.1_3'UTR	p.P1207S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			23	3780	-			1207					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3619C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101184	0.94245	0.0	1.16E-4	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	D	0.89746	-2.56	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.994;0.999;0.998	D	0.91996	0.5607	10	0.54805	T	0.06	-9.9667	20.3789	0.98926	0.0:0.0:1.0:0.0	.	208;1207;900;942;944	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	S	262;944;1207;208;942;900;132	ENSP00000366843:P1207S	ENSP00000366843:P1207S	P	-	1	0	ATXN2	110378341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.030000	0.93725	2.826000	0.97356	0.563000	0.77884	CCT		0.592	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		50	226	0	0	0	1	0	50	226				
CTNND2	1501	broad.mit.edu	37	5	10981948	10981948	+	Silent	SNP	A	A	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:10981948A>C	ENST00000304623.8	-	21	3543	c.3354T>G	c.(3352-3354)acT>acG	p.T1118T	CTNND2_ENST00000503622.1_Silent_p.T781T|CTNND2_ENST00000359640.2_Silent_p.T1060T|CTNND2_ENST00000511377.1_Silent_p.T1027T|CTNND2_ENST00000458100.2_Silent_p.T685T|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1118					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGAAATTCCAGTGTTTTGAG	0.348																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(3352-3354)acT>acG		catenin (cadherin-associated protein), delta 2							120.0	119.0	119.0					5																	10981948		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:10981948A>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3354T>G	5.37:g.10981948A>C						CTNND2_ENST00000359640.2_Silent_p.T1060T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.T781T|CTNND2_ENST00000458100.2_Silent_p.T685T|CTNND2_ENST00000511377.1_Silent_p.T1027T	p.T1118T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			21	3543	-			1118					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.3354T>G	CCDS3881.1																																																																																				0.348	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		17	68	0	0	0	1	0	17	68				
KRTAP5-5	439915	broad.mit.edu	37	11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(91-93)tGt>tTt		keratin associated protein 5-5							22.0	33.0	29.0					11																	1651162		2072	4152	6224	SO:0001583	missense	439915					keratin filament		g.chr11:1651162G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.92G>T	11.37:g.1651162G>T	ENSP00000382584:p.Cys31Phe						p.C31F	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	130	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	31	C -> R (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.92G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261628	0.05791	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.02067	4.47	2.25	-0.0385	0.13880	.	.	.	.	.	T	0.04861	0.0131	M	0.84773	2.715	0.09310	N	1	P	0.44734	0.842	B	0.41571	0.36	T	0.22661	-1.0210	9	0.46703	T	0.11	.	7.6289	0.28228	0.0:0.5258:0.4742:0.0	.	31	Q701N2	KRA55_HUMAN	F	31;29	ENSP00000382584:C31F	ENSP00000382584:C31F	C	+	2	0	KRTAP5-5	1607738	0.996000	0.38824	0.001000	0.08648	0.090000	0.18270	3.139000	0.50577	0.010000	0.14839	0.448000	0.29417	TGT		0.716	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			4	129	1	0	0.150653	1	0.150653	4	129				
FAT1	2195	broad.mit.edu	37	4	187530348	187530348	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:187530348C>A	ENST00000441802.2	-	16	10404	c.10195G>T	c.(10195-10197)Gac>Tac	p.D3399Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3399	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCTCGGTCGAGAAGTTTG	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10195-10197)Gac>Tac		FAT atypical cadherin 1							122.0	117.0	119.0					4																	187530348		1992	4178	6170	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187530348C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10195G>T	4.37:g.187530348C>A	ENSP00000406229:p.Asp3399Tyr	HNSCC(5;0.00058)					p.D3399Y	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			16	10404	-			3399			Cadherin 31.			Missense_Mutation	SNP	ENST00000441802.2	37	c.10195G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351404	0.61183	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.65549	-0.16	5.08	5.08	0.68730	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92896	0.6335	10	0.87932	D	0	.	18.4638	0.90748	0.0:1.0:0.0:0.0	.	3399	Q14517	FAT1_HUMAN	Y	3399;3401	ENSP00000406229:D3399Y	ENSP00000260147:D3401Y	D	-	1	0	FAT1	187767342	1.000000	0.71417	0.982000	0.44146	0.072000	0.16883	7.757000	0.85209	2.352000	0.79861	0.563000	0.77884	GAC		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	20	1	0	9.70103e-10	1	1.10604e-09	9	20				
UBE2R2	54926	broad.mit.edu	37	9	33900204	33900204	+	Silent	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:33900204G>T	ENST00000263228.3	+	3	488	c.297G>T	c.(295-297)ccG>ccT	p.P99P		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	99					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TTCTTCATCCGCCTGTAGATG	0.398																																						ENST00000263228.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(295-297)ccG>ccT		ubiquitin-conjugating enzyme E2R 2							156.0	148.0	150.0					9																	33900204		2203	4300	6503	SO:0001819	synonymous_variant	54926				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	g.chr9:33900204G>T	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.297G>T	9.37:g.33900204G>T							p.P99P	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	3	488	+			99					D3DRL5|Q9NX64	Silent	SNP	ENST00000263228.3	37	c.297G>T	CCDS6546.1																																																																																				0.398	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		7	56	1	0	0.000274275	1	0.000287107	7	56				
CYFIP1	23191	broad.mit.edu	37	15	22933783	22933783	+	Silent	SNP	C	C	T	rs180812136		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:22933783C>T	ENST00000313077.7	+	8	827	c.702C>T	c.(700-702)taC>taT	p.Y234Y	CYFIP1_ENST00000560848.1_Silent_p.Y234Y	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTTCTGGCTACGAAGAGCTCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18227	0.001		0.0	False		,,,				2504	0.0					ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(700-702)taC>taT		cytoplasmic FMR1 interacting protein 1		C		0,4406		0,0,2203	129.0	128.0	128.0		702	-7.6	0.6	15		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYFIP1	NM_014608.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		234/1254	22933783	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22933783C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.702C>T	15.37:g.22933783C>T						CYFIP1_ENST00000560848.1_Silent_p.Y234Y	p.Y234Y	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	8	827	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	234						Silent	SNP	ENST00000313077.7	37	c.702C>T	CCDS10009.1																																																																																				0.527	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		40	129	0	0	0	1	0	40	129				
ABCC8	6833	broad.mit.edu	37	11	17429971	17429971	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:17429971G>T	ENST00000389817.3	-	23	2856	c.2788C>A	c.(2788-2790)Ctc>Atc	p.L930I	ABCC8_ENST00000302539.4_Missense_Mutation_p.L931I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	930					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CGGTTCATGAGGGTCTTCCAG	0.537																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2791-2793)Ctc>Atc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						104.0	96.0	99.0					11																	17429971		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17429971G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2788C>A	11.37:g.17429971G>T	ENSP00000374467:p.Leu930Ile					ABCC8_ENST00000389817.3_Missense_Mutation_p.L930I	p.L931I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	23	2916	-			930					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2791C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777686	0.49786	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.92397	-3.03;-3.03	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	D	0.91556	0.7333	M	0.82433	2.59	0.58432	D	0.999994	B	0.33345	0.409	B	0.30943	0.122	D	0.89177	0.3541	10	0.33141	T	0.24	.	13.9527	0.64129	0.0714:0.0:0.9286:0.0	.	930	Q09428	ABCC8_HUMAN	I	930;931;934	ENSP00000374467:L930I;ENSP00000303960:L931I	ENSP00000303960:L931I	L	-	1	0	ABCC8	17386547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.479000	0.60236	2.873000	0.98535	0.563000	0.77884	CTC		0.537	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		25	54	1	0	3.01185e-09	1	3.41216e-09	25	54				
IRF2BP1	26145	broad.mit.edu	37	19	46388616	46388616	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:46388616C>T	ENST00000302165.3	-	1	760	c.417G>A	c.(415-417)ggG>ggA	p.G139G		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CACGGCCCAGCCCATTGGCCA	0.701																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(415-417)ggG>ggA		interferon regulatory factor 2 binding protein 1							12.0	13.0	13.0					19																	46388616		2152	4217	6369	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388616C>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.417G>A	19.37:g.46388616C>T							p.G139G	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	760	-		all_neural(266;0.113)|Ovarian(192;0.127)	139					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.417G>A	CCDS12678.1																																																																																				0.701	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		7	26	0	0	0	1	0	7	26				
GABRR1	2569	broad.mit.edu	37	6	89891711	89891711	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:89891711T>A	ENST00000454853.2	-	8	972	c.862A>T	c.(862-864)Act>Tct	p.T288S	GABRR1_ENST00000369451.3_Missense_Mutation_p.T201S|GABRR1_ENST00000435811.1_Missense_Mutation_p.T271S	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	288					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGGAAATAAGTTTGGAGCAAG	0.512																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(811-813)Act>Tct		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						172.0	157.0	162.0					6																	89891711		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89891711T>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.862A>T	6.37:g.89891711T>A	ENSP00000412673:p.Thr288Ser					GABRR1_ENST00000369451.3_Missense_Mutation_p.T201S|GABRR1_ENST00000454853.2_Missense_Mutation_p.T288S	p.T271S	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	7	1265	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	288					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.811A>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	T	29.6	5.021364	0.93462	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.86627	-2.15;-2.15;-2.15	5.37	5.37	0.77165	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.73753	2.245	0.80722	D	1	P;P	0.45396	0.828;0.857	P;P	0.52957	0.591;0.714	D	0.88675	0.3198	9	.	.	.	-22.3004	15.3687	0.74545	0.0:0.0:0.0:1.0	.	271;288	P24046-2;P24046	.;GBRR1_HUMAN	S	288;271;201;201	ENSP00000412673:T288S;ENSP00000394687:T271S;ENSP00000358463:T201S	.	T	-	1	0	GABRR1	89948430	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	2.030000	0.59900	0.383000	0.25322	ACT		0.512	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			30	97	0	0	0	1	0	30	97				
HYAL3	8372	broad.mit.edu	37	3	50330867	50330867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:50330867G>A	ENST00000336307.1	-	4	1336	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	IFRD2_ENST00000484043.1_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.A325V|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000450982.1_Missense_Mutation_p.A325V|HYAL3_ENST00000513170.1_Missense_Mutation_p.A76V|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.A106V|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	355	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTGACTGCAGGCCATCGCTGC	0.607																																						ENST00000336307.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1063-1065)gCc>gTc		hyaluronoglucosaminidase 3							52.0	51.0	51.0					3																	50330867		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50330867G>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.1064C>T	3.37:g.50330867G>A	ENSP00000337425:p.Ala355Val					HYAL3_ENST00000415204.1_Missense_Mutation_p.A106V|HYAL3_ENST00000450982.1_Missense_Mutation_p.A325V|HYAL3_ENST00000513170.1_Missense_Mutation_p.A76V|HYAL3_ENST00000359051.3_Missense_Mutation_p.A325V	p.A355V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	1336	-			355			EGF-like.		O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.1064C>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123088	0.37436	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000415204;ENST00000513170;ENST00000450982	T;T;T;T	0.42513	1.98;2.31;0.97;1.98	5.26	3.45	0.39498	Epidermal growth factor-like (1);	0.595025	0.14744	U	0.301001	T	0.29945	0.0749	L	0.43152	1.355	0.29064	N	0.883744	B;B;B;B	0.28082	0.11;0.11;0.031;0.2	B;B;B;B	0.29077	0.031;0.031;0.008;0.098	T	0.22941	-1.0202	10	0.17369	T	0.5	-0.75	4.6723	0.12694	0.1751:0.0:0.6498:0.1751	.	76;106;355;325	O43820-4;O43820-3;O43820;O43820-2	.;.;HYAL3_HUMAN;.	V	325;355;106;76;325	ENSP00000351946:A325V;ENSP00000337425:A355V;ENSP00000401092:A106V;ENSP00000391922:A325V	ENSP00000337425:A355V	A	-	2	0	HYAL3	50305871	0.011000	0.17503	0.854000	0.33618	0.523000	0.34469	0.617000	0.24359	0.777000	0.33496	-0.181000	0.13052	GCC		0.607	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		13	42	0	0	0	1	0	13	42				
CPNE4	131034	broad.mit.edu	37	3	131268816	131268816	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:131268816T>A	ENST00000512055.1	-	18	3403	c.1277A>T	c.(1276-1278)gAg>gTg	p.E426V	CPNE4_ENST00000429747.1_Missense_Mutation_p.E426V|CPNE4_ENST00000511604.1_Missense_Mutation_p.E426V|CPNE4_ENST00000502818.1_Missense_Mutation_p.E444V|CPNE4_ENST00000512332.1_Missense_Mutation_p.E444V			Q96A23	CPNE4_HUMAN	copine IV	426	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTTAGTTTCCTCTGACGCTGA	0.532																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1276-1278)gAg>gTg		copine IV							157.0	136.0	143.0					3																	131268816		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131268816T>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1277A>T	3.37:g.131268816T>A	ENSP00000421705:p.Glu426Val					CPNE4_ENST00000511604.1_Missense_Mutation_p.E426V|CPNE4_ENST00000429747.1_Missense_Mutation_p.E426V|CPNE4_ENST00000512332.1_Missense_Mutation_p.E444V|CPNE4_ENST00000502818.1_Missense_Mutation_p.E444V	p.E426V			Q96A23	CPNE4_HUMAN			18	3403	-			426			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1277A>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266881	0.59540	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.33	5.33	0.75918	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.53617	1.68	0.80722	D	1	B;B	0.26547	0.12;0.152	B;B	0.33121	0.149;0.158	T	0.03695	-1.1012	10	0.48119	T	0.1	-31.5764	15.2967	0.73913	0.0:0.0:0.0:1.0	.	444;426	Q96A23-2;Q96A23	.;CPNE4_HUMAN	V	426;426;444;426;444	ENSP00000421705:E426V;ENSP00000411904:E426V;ENSP00000424853:E444V;ENSP00000423811:E426V;ENSP00000421646:E444V	ENSP00000411904:E426V	E	-	2	0	CPNE4	132751506	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	5.955000	0.70306	2.028000	0.59812	0.379000	0.24179	GAG		0.532	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		15	67	0	0	0	1	0	15	67				
IGHG4	3503	broad.mit.edu	37	14	106091116	106091116	+	RNA	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:106091116C>A	ENST00000390543.2	-	0	680							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GGGTGTACACCTGTGGCTCTC	0.647																																						ENST00000390543.2																			0																				130.0	182.0	165.0					14																	106091116		2039	4191	6230			3503							g.chr14:106091116C>A	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091116C>A														0	680	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.647	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		33	416	1	0	1.62565e-12	1	1.9019e-12	33	416				
CDH16	1014	broad.mit.edu	37	16	66945907	66945907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr16:66945907G>A	ENST00000299752.4	-	13	1878	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	CDH16_ENST00000570262.1_Missense_Mutation_p.P482L|CDH16_ENST00000394055.3_Missense_Mutation_p.P562L|CDH16_ENST00000568632.1_Missense_Mutation_p.P465L|CDH16_ENST00000565796.1_Missense_Mutation_p.P562L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCCAACTTGGGGGGTGGCAT	0.662																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1684-1686)cCc>cTc		cadherin 16, KSP-cadherin							100.0	94.0	96.0					16																	66945907		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945907G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1685C>T	16.37:g.66945907G>A	ENSP00000299752:p.Pro562Leu					CDH16_ENST00000568632.1_Missense_Mutation_p.P465L|CDH16_ENST00000570262.1_Missense_Mutation_p.P482L|CDH16_ENST00000394055.3_Missense_Mutation_p.P562L|CDH16_ENST00000565796.1_Missense_Mutation_p.P562L	p.P562L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	13	1878	-		Ovarian(137;0.0563)	562			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1685C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	7.326	0.617866	0.14129	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	D;D	0.92805	-3.11;-1.9	5.25	2.84	0.33178	Cadherin (3);Cadherin-like (1);	0.060943	0.64402	N	0.000003	D	0.90410	0.6998	M	0.82716	2.605	0.58432	D	0.999999	B;B;B	0.24043	0.096;0.022;0.058	B;B;B	0.25614	0.062;0.011;0.028	D	0.87058	0.2151	10	0.51188	T	0.08	-9.3099	6.1313	0.20207	0.2817:0.0:0.7183:0.0	.	562;562;562	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	L	562;562;526	ENSP00000377619:P562L;ENSP00000299752:P562L	ENSP00000299752:P562L	P	-	2	0	CDH16	65503408	0.984000	0.35163	0.938000	0.37757	0.029000	0.11900	1.978000	0.40598	1.019000	0.39547	0.462000	0.41574	CCC		0.662	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		43	100	0	0	0	1	0	43	100				
VPS13D	55187	broad.mit.edu	37	1	12359287	12359287	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:12359287G>T	ENST00000358136.3	+	25	6192	c.6062G>T	c.(6061-6063)cGg>cTg	p.R2021L	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2021L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGCTGTTCACGGGTTCTCCTG	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6061-6063)cGg>cTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							99.0	99.0	99.0					1																	12359287		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12359287G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6062G>T	1.37:g.12359287G>T	ENSP00000350854:p.Arg2021Leu					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2021L	p.R2021L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	25	6192	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2021						Missense_Mutation	SNP	ENST00000358136.3	37	c.6062G>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.855503|4.855503	0.91355|0.91355	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.66099	.|-0.19;-0.18	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79021|0.79021	0.4376|0.4376	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.995	T|T	0.76884|0.76884	-0.2794|-0.2794	5|10	.|0.44086	.|T	.|0.13	.|.	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2021;2021	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	W|L	844|2021	.|ENSP00000348666:R2021L;ENSP00000350854:R2021L	.|ENSP00000348666:R2021L	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12281874|12281874	1.000000|1.000000	0.71417|0.71417	0.700000|0.700000	0.30305|0.30305	0.869000|0.869000	0.49853|0.49853	9.402000|9.402000	0.97298|0.97298	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		25	69	1	0	6.36457e-07	1	6.9467e-07	25	69				
NLRP3	114548	broad.mit.edu	37	1	247582236	247582236	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:247582236A>G	ENST00000336119.3	+	1	886	c.140A>G	c.(139-141)gAg>gGg	p.E47G	NLRP3_ENST00000366496.2_Missense_Mutation_p.E47G|NLRP3_ENST00000366497.2_Missense_Mutation_p.E47G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E47G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.E47G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E47G	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	47	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGTCAGACAGAGAAGGCAGAC	0.557																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(139-141)gAg>gGg		NLR family, pyrin domain containing 3							60.0	52.0	54.0					1																	247582236		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582236A>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.140A>G	1.37:g.247582236A>G	ENSP00000337383:p.Glu47Gly					NLRP3_ENST00000336119.3_Missense_Mutation_p.E47G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E47G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E47G	p.E47G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	920	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	47			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.140A>G	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021158	0.54576	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	4.49	2.05	0.26809	Pyrin (2);DEATH-like (2);	0.433324	0.19856	N	0.104528	T	0.66247	0.2770	M	0.71581	2.175	0.24864	N	0.992325	D;P;D;D;P	0.89917	0.997;0.945;0.999;1.0;0.901	D;P;D;D;P	0.71870	0.939;0.719;0.975;0.975;0.613	T	0.56655	-0.7943	10	0.72032	D	0.01	.	8.6948	0.34289	0.5712:0.4288:0.0:0.0	.	47;47;47;47;47	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	G	47	ENSP00000375704:E47G;ENSP00000355453:E47G;ENSP00000337383:E47G;ENSP00000294752:E47G;ENSP00000355452:E47G;ENSP00000375703:E47G	ENSP00000337383:E47G	E	+	2	0	NLRP3	245648859	0.942000	0.31987	0.022000	0.16811	0.798000	0.45092	1.496000	0.35638	0.312000	0.23038	0.459000	0.35465	GAG		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		6	37	0	0	0	1	0	6	37				
NAA15	80155	broad.mit.edu	37	4	140264024	140264024	+	Silent	SNP	A	A	T	rs368817172		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:140264024A>T	ENST00000296543.5	+	5	770	c.447A>T	c.(445-447)gcA>gcT	p.A149A	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A149A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	149					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CGCAGAGAGCATCATGGATTG	0.343																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(445-447)gcA>gcT		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							137.0	127.0	130.0					4																	140264024		1857	4119	5976	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140264024A>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.447A>T	4.37:g.140264024A>T						NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A149A	p.A149A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			5	770	+			149					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.447A>T	CCDS43270.1																																																																																				0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		12	52	0	0	0	1	0	12	52				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(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.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	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.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	181	0	0	0	1	0	5	181				
NF1	4763	broad.mit.edu	37	17	29663706	29663706	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:29663706T>C	ENST00000358273.4	+	42	6584	c.6201T>C	c.(6199-6201)ccT>ccC	p.P2067P	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000356175.3_Silent_p.P2046P|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2067					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCAACTCCTACTTTAGAAC	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6199-6201)ccT>ccC		neurofibromin 1							132.0	109.0	117.0					17																	29663706		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663706T>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6201T>C	17.37:g.29663706T>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.P2046P	p.P2067P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	42	6584	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2067					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.6201T>C	CCDS42292.1																																																																																				0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	30	0	0	0	1	0	7	30				
GATA3	2625	broad.mit.edu	37	10	8100553	8100553	+	Missense_Mutation	SNP	C	C	A	rs145577748		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:8100553C>A	ENST00000346208.3	+	3	982	c.527C>A	c.(526-528)gCc>gAc	p.A176D	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.A176D			P23771	GATA3_HUMAN	GATA binding protein 3	176					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCGGCTCGGCCCGGCAGGAC	0.706			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(526-528)gCc>gAc		GATA binding protein 3							48.0	49.0	49.0					10																	8100553		2203	4299	6502	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100553C>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.527C>A	10.37:g.8100553C>A	ENSP00000341619:p.Ala176Asp					GATA3_ENST00000346208.3_Missense_Mutation_p.A176D|GATA3_ENST00000461472.1_3'UTR	p.A176D	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	1095	+			176					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.527C>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	7.788	0.710911	0.15239	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96491	-4.03;-4.02	5.55	2.3	0.28687	.	0.511218	0.22150	N	0.063921	D	0.93805	0.8019	L	0.39898	1.24	0.19300	N	0.999978	B;B	0.25486	0.09;0.127	B;B	0.27262	0.015;0.078	T	0.79150	-0.1922	10	0.22109	T	0.4	-23.0656	20.2987	0.98592	0.0:0.3177:0.6823:0.0	.	176;176	P23771;P23771-2	GATA3_HUMAN;.	D	176	ENSP00000368632:A176D;ENSP00000341619:A176D	ENSP00000341619:A176D	A	+	2	0	GATA3	8140559	0.018000	0.18449	0.993000	0.49108	0.751000	0.42716	0.206000	0.17375	0.103000	0.17682	-0.304000	0.09214	GCC		0.706	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		82	99	1	0	4.02937e-33	1	4.90651e-33	82	99				
NUDT9	53343	broad.mit.edu	37	4	88370348	88370348	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:88370348T>C	ENST00000302174.4	+	5	909	c.585T>C	c.(583-585)caT>caC	p.H195H	NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000473942.1_Silent_p.H145H	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	195	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CTGGGAAGCATATCTTACAAT	0.328																																						ENST00000473942.1																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(433-435)caT>caC		nudix (nucleoside diphosphate linked moiety X)-type motif 9							104.0	105.0	105.0					4																	88370348		2203	4300	6503	SO:0001819	synonymous_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88370348T>C	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.585T>C	4.37:g.88370348T>C						NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000302174.4_Silent_p.H195H	p.H145H	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	5	557	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	195					Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	c.435T>C	CCDS3620.1																																																																																				0.328	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			11	37	0	0	0	1	0	11	37				
HIST1H2AK	8330	broad.mit.edu	37	6	27805970	27805970	+	Missense_Mutation	SNP	C	C	T	rs142211266		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:27805970C>T	ENST00000330180.2	-	1	147	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	50						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCCAGGTACACCGGCGCTCCG	0.662																																						ENST00000330180.2																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(148-150)Gtg>Atg		histone cluster 1, H2ak							44.0	48.0	47.0					6																	27805970		2203	4299	6502	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805970C>T	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.148G>A	6.37:g.27805970C>T	ENSP00000330307:p.Val50Met						p.V50M	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN			1	147	-			50					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.148G>A	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	15.70	2.911596	0.52439	.	.	ENSG00000184348	ENST00000330180	T	0.53423	0.62	4.19	4.19	0.49359	.	0.000000	0.28589	U	0.014819	T	0.51770	0.1694	.	.	.	0.32717	N	0.510767	.	.	.	.	.	.	T	0.58651	-0.7599	7	0.87932	D	0	.	16.4042	0.83652	0.0:1.0:0.0:0.0	.	.	.	.	M	50	ENSP00000330307:V50M	ENSP00000330307:V50M	V	-	1	0	HIST1H2AK	27913949	1.000000	0.71417	0.745000	0.31077	0.516000	0.34256	5.600000	0.67599	2.254000	0.74563	0.650000	0.86243	GTG		0.662	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		19	116	0	0	0	1	0	19	116				
ZBBX	79740	broad.mit.edu	37	3	167000073	167000073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:167000073G>A	ENST00000392766.2	-	19	2430	c.2090C>T	c.(2089-2091)aCt>aTt	p.T697I	ZBBX_ENST00000392764.1_Missense_Mutation_p.T668I|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736I|ZBBX_ENST00000307529.5_Missense_Mutation_p.T736I|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	697						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTGTCTAAAGTATGTTGATC	0.328																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2089-2091)aCt>aTt		zinc finger, B-box domain containing							85.0	77.0	80.0					3																	167000073		1817	4089	5906	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167000073G>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2090C>T	3.37:g.167000073G>A	ENSP00000376519:p.Thr697Ile					ZBBX_ENST00000307529.5_Missense_Mutation_p.T736I|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736I|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697I|ZBBX_ENST00000392764.1_Missense_Mutation_p.T668I	p.T697I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			19	2430	-			697					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2090C>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	9.700	1.154205	0.21371	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.28	4.4	0.53042	.	1.008340	0.07959	N	0.982054	T	0.53578	0.1805	L	0.46157	1.445	0.09310	N	1	P;P	0.48016	0.904;0.845	P;B	0.47573	0.55;0.348	T	0.42378	-0.9455	10	0.62326	D	0.03	6.0016	7.9743	0.30145	0.1831:0.0:0.8169:0.0	.	736;697	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	697;697;736;736;668	ENSP00000376519:T697I;ENSP00000376520:T697I;ENSP00000390232:T736I;ENSP00000305065:T736I;ENSP00000376517:T668I	ENSP00000305065:T736I	T	-	2	0	ZBBX	168482767	0.956000	0.32656	0.008000	0.14137	0.032000	0.12392	2.899000	0.48679	1.225000	0.43566	0.650000	0.86243	ACT		0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		23	50	0	0	0	1	0	23	50				
LDB3	11155	broad.mit.edu	37	10	88466305	88466305	+	Missense_Mutation	SNP	C	C	T	rs544084461		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:88466305C>T	ENST00000361373.4	+	7	935	c.914C>T	c.(913-915)gCg>gTg	p.A305V	LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ATTGAGCATGCGCCGGTGTGC	0.667																																						ENST00000361373.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(913-915)gCg>gTg		LIM domain binding 3							93.0	104.0	100.0					10																	88466305		2203	4299	6502	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88466305C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.914C>T	10.37:g.88466305C>T	ENSP00000355296:p.Ala305Val					LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron	p.A305V	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN			7	935	+			305						Missense_Mutation	SNP	ENST00000361373.4	37	c.914C>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376573	0.61735	.	.	ENSG00000122367	ENST00000361373	T	0.52983	0.64	5.52	5.52	0.82312	.	0.000000	0.32372	N	0.006199	T	0.59609	0.2206	L	0.38531	1.155	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.57929	-0.7726	10	0.49607	T	0.09	.	16.7469	0.85475	0.0:1.0:0.0:0.0	.	305	O75112	LDB3_HUMAN	V	305	ENSP00000355296:A305V	ENSP00000355296:A305V	A	+	2	0	LDB3	88456285	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.535000	0.60629	2.753000	0.94483	0.655000	0.94253	GCG		0.667	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			72	259	0	0	0	1	0	72	259				
ARHGEF10L	55160	broad.mit.edu	37	1	17983200	17983200	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:17983200A>G	ENST00000361221.3	+	25	3016	c.2857A>G	c.(2857-2859)Agc>Ggc	p.S953G	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S656G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S948G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S726G	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	953						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCTCGGACCAGCGGTGAGGA	0.647																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2857-2859)Agc>Ggc		Rho guanine nucleotide exchange factor (GEF) 10-like							35.0	36.0	35.0					1																	17983200		2203	4299	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17983200A>G	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2857A>G	1.37:g.17983200A>G	ENSP00000355060:p.Ser953Gly					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S726G|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S656G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S948G	p.S953G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	25	3016	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	953					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.2857A>G	CCDS182.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966252	0.34659	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.64991	1.16;1.16;-0.13;1.16;1.16;1.16	4.72	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.774336	0.12747	N	0.442553	T	0.48892	0.1525	L	0.35854	1.095	0.28522	N	0.91301	B;B;P;B;B;B;B	0.35033	0.138;0.217;0.481;0.08;0.217;0.317;0.128	B;B;B;B;B;B;B	0.33454	0.065;0.138;0.108;0.045;0.138;0.164;0.079	T	0.40327	-0.9569	10	0.25106	T	0.35	-19.5494	8.5659	0.33538	0.8048:0.1952:0.0:0.0	.	726;948;656;714;909;914;953	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	G	953;914;948;914;726;726;656	ENSP00000355060:S953G;ENSP00000399401:S914G;ENSP00000394621:S948G;ENSP00000364564:S914G;ENSP00000364557:S726G;ENSP00000167825:S656G	ENSP00000167825:S656G	S	+	1	0	ARHGEF10L	17855787	0.989000	0.36119	1.000000	0.80357	0.831000	0.47069	4.539000	0.60657	1.754000	0.51921	0.454000	0.30748	AGC		0.647	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	50	0	0	0	1	0	3	50				
OSBPL9	114883	broad.mit.edu	37	1	52117695	52117695	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:52117695A>T	ENST00000428468.1	+	2	146	c.144A>T	c.(142-144)agA>agT	p.R48S	OSBPL9_ENST00000337809.4_Missense_Mutation_p.R66S|OSBPL9_ENST00000371714.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000435686.2_De_novo_Start_InFrame|OSBPL9_ENST00000371710.3_Missense_Mutation_p.R66S			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GCTCTCGCAGAGGATGTGTTA	0.294																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(196-198)agA>agT		oxysterol binding protein-like 9							88.0	81.0	83.0					1																	52117695		1805	4078	5883	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52117695A>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.144A>T	1.37:g.52117695A>T	ENSP00000407168:p.Arg48Ser					OSBPL9_ENST00000371714.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R66S|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000435686.2_De_novo_Start_InFrame|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R48S	p.R66S	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			2	380	+			48			PH.		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.198A>T	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269247	0.80469	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.55	5.55	0.83447	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	0.994;0.994;1.0	D;D;D	0.91635	0.985;0.985;0.999	D	0.92000	0.5610	10	0.87932	D	0	-15.3783	12.0825	0.53680	1.0:0.0:0.0:0.0	.	54;48;66	B1AKJ7;Q96SU4;B1AKJ6	.;OSBL9_HUMAN;.	S	48;66;66;48;48	ENSP00000360779:R48S;ENSP00000360775:R66S;ENSP00000337265:R66S;ENSP00000412733:R48S;ENSP00000407168:R48S	ENSP00000337265:R66S	R	+	3	2	OSBPL9	51890283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.968000	0.63728	2.099000	0.63709	0.377000	0.23210	AGA		0.294	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			8	20	0	0	0	1	0	8	20				
CEP112	201134	broad.mit.edu	37	17	63848087	63848087	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:63848087C>T	ENST00000392769.2	-	21	2447	c.2229G>A	c.(2227-2229)caG>caA	p.Q743Q	CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000541355.1_Silent_p.Q378Q|CEP112_ENST00000537949.1_Silent_p.Q701Q|CEP112_ENST00000535342.2_Silent_p.Q743Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	743					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTGTTTCCGCTGTGAGTTCA	0.428																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2227-2229)caG>caA		centrosomal protein 112kDa							104.0	95.0	98.0					17																	63848087		2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63848087C>T	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2229G>A	17.37:g.63848087C>T						CEP112_ENST00000541355.1_Silent_p.Q378Q|CEP112_ENST00000535342.2_Silent_p.Q743Q|CEP112_ENST00000537949.1_Silent_p.Q701Q|CEP112_ENST00000580482.1_5'UTR	p.Q743Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			21	2447	-			743					Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.2229G>A	CCDS32710.1																																																																																				0.428	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		17	55	0	0	0	1	0	17	55				
BPIFB2	80341	broad.mit.edu	37	20	31609590	31609590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:31609590G>T	ENST00000170150.3	+	15	1515	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	440						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCGCCCCTGAGATCTTTGTCT	0.587																																						ENST00000170150.3																			0											c.(1318-1320)gaG>gaT		BPI fold containing family B, member 2							152.0	138.0	142.0					20																	31609590		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31609590G>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1320G>T	20.37:g.31609590G>T	ENSP00000170150:p.Glu440Asp						p.E440D	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			15	1515	+			440					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1320G>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601098	0.28534	.	.	ENSG00000078898	ENST00000170150	T	0.08546	3.08	4.49	0.353	0.16058	.	0.431335	0.19555	N	0.111478	T	0.06188	0.0160	L	0.32530	0.975	0.28750	N	0.901466	P	0.42078	0.77	B	0.43508	0.422	T	0.25152	-1.0140	10	0.26408	T	0.33	-14.0439	3.582	0.07957	0.3152:0.1926:0.4921:0.0	.	440	Q8N4F0	BPIB2_HUMAN	D	440	ENSP00000170150:E440D	ENSP00000170150:E440D	E	+	3	2	BPIFB2	31073251	0.792000	0.28813	0.427000	0.26684	0.187000	0.23431	0.087000	0.14958	0.230000	0.21059	-0.224000	0.12420	GAG		0.587	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		41	78	1	0	5.34276e-22	1	6.41848e-22	41	78				
DHRS2	10202	broad.mit.edu	37	14	24113650	24113650	+	Silent	SNP	G	G	A	rs186440699		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:24113650G>A	ENST00000250383.6	+	7	1049	c.573G>A	c.(571-573)gcG>gcA	p.A191A	DHRS2_ENST00000344777.7_Silent_p.A191A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	191					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCAAGACAGCGCTGCTGGGTC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20924	0.001		0.0	False		,,,				2504	0.0					ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(571-573)gcG>gcA		dehydrogenase/reductase (SDR family) member 2		G	,	0,4406		0,0,2203	79.0	78.0	78.0		573,573	-0.1	0.2	14		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DHRS2	NM_005794.3,NM_182908.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	191/281,191/301	24113650	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24113650G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.573G>A	14.37:g.24113650G>A						DHRS2_ENST00000344777.7_Silent_p.A191A	p.A191A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	7	1049	+			169					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.573G>A	CCDS9604.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.402	-0.918041	0.02396	0.0	1.16E-4	ENSG00000100867	ENST00000557535	T	0.43688	0.94	4.93	-0.082	0.13700	.	0.056550	0.64402	N	0.000002	T	0.32675	0.0837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06267	-1.0836	6	.	.	.	.	2.4586	0.04536	0.2554:0.4662:0.1282:0.1502	.	.	.	.	T	107	ENSP00000451895:A107T	.	A	+	1	0	DHRS2	23183490	0.015000	0.18098	0.185000	0.23176	0.025000	0.11179	-0.597000	0.05713	-0.109000	0.12044	-2.709000	0.00134	GCT		0.512	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		22	104	0	0	0	1	0	22	104				
XAB2	56949	broad.mit.edu	37	19	7689197	7689197	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7689197G>A	ENST00000358368.4	-	7	994	c.957C>T	c.(955-957)cgC>cgT	p.R319R	XAB2_ENST00000534844.1_Silent_p.R316R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	319					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTCCTCCTCGCGCCCCAGCT	0.642								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(955-957)cgC>cgT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							74.0	70.0	71.0					19																	7689197		2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7689197G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.957C>T	19.37:g.7689197G>A						XAB2_ENST00000534844.1_Silent_p.R316R	p.R319R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			7	994	-			319					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.957C>T	CCDS32892.1																																																																																				0.642	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		19	115	0	0	0	1	0	19	115				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			5	69	0	0	0	1	0	5	69				
DNAH8	1769	broad.mit.edu	37	6	38939413	38939413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:38939413G>C	ENST00000359357.3	+	81	12100	c.11846G>C	c.(11845-11847)cGa>cCa	p.R3949P	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166P|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3949	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11845-11847)cGa>cCa		dynein, axonemal, heavy chain 8							159.0	130.0	140.0					6																	38939413		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38939413G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11846G>C	6.37:g.38939413G>C	ENSP00000352312:p.Arg3949Pro					DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166P|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913P	p.R3949P							81	12100	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11846G>C		.	.	.	.	.	.	.	.	.	.	G	25.6	4.649982	0.87958	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.09163	3.01;3.01;3.01	5.04	5.04	0.67666	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60890	-0.7173	10	0.54805	T	0.06	.	18.407	0.90539	0.0:0.0:1.0:0.0	.	3913;3949	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	P	4154;4154;3949;3913	ENSP00000333363:R4154P;ENSP00000352312:R3949P;ENSP00000402294:R3913P	ENSP00000333363:R4154P	R	+	2	0	DNAH8	39047391	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	7.033000	0.76504	2.335000	0.79485	0.555000	0.69702	CGA		0.413	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		14	54	0	0	0	1	0	14	54				
OPRL1	4987	broad.mit.edu	37	20	62729634	62729634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:62729634G>T	ENST00000349451.3	+	6	1007	c.595G>T	c.(595-597)Gag>Tag	p.E199*	OPRL1_ENST00000355631.4_Nonsense_Mutation_p.E199*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.E199*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	199					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCAGAGATCGAGTGCCTGGT	0.637																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(595-597)Gag>Tag		opiate receptor-like 1							174.0	141.0	153.0					20																	62729634		2203	4298	6501	SO:0001587	stop_gained	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729634G>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.595G>T	20.37:g.62729634G>T	ENSP00000336764:p.Glu199*					OPRL1_ENST00000355631.4_Nonsense_Mutation_p.E199*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.E199*	p.E199*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1007	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		199					Q8TD34|Q8WYH9|Q9H4K4	Nonsense_Mutation	SNP	ENST00000349451.3	37	c.595G>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	40	8.061947	0.98635	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	.	.	.	4.71	4.71	0.59529	.	0.052002	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	17.6656	0.88202	0.0:0.0:1.0:0.0	.	.	.	.	X	199	.	ENSP00000336843:E199X	E	+	1	0	OPRL1	62200078	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.561000	0.98142	2.166000	0.68216	0.555000	0.69702	GAG		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		15	61	1	0	4.7546e-09	1	5.31921e-09	15	61				
CD209	30835	broad.mit.edu	37	19	7810657	7810657	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7810657C>A	ENST00000315599.7	-	4	517	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CD209_ENST00000315591.8_Missense_Mutation_p.K141N|CD209_ENST00000601256.1_Missense_Mutation_p.K141N|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K165N|CD209_ENST00000593660.1_Missense_Mutation_p.K141N|CD209_ENST00000602261.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.K141N|CD209_ENST00000204801.8_Missense_Mutation_p.K121N|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	165	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCATCTTAGATTTCT	0.552																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(493-495)aaG>aaT		CD209 molecule							121.0	118.0	119.0					19																	7810657		2202	4298	6500	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810657C>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.495G>T	19.37:g.7810657C>A	ENSP00000315477:p.Lys165Asn					CD209_ENST00000601951.1_Missense_Mutation_p.K141N|CD209_ENST00000601256.1_Missense_Mutation_p.K141N|CD209_ENST00000204801.8_Missense_Mutation_p.K121N|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K141N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K141N|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K165N	p.K165N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	517	-			165			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.495G>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263470	0.23136	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000540789	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	0.461	0.461	0.16689	.	.	.	.	.	T	0.35828	0.0945	M	0.78801	2.425	0.09310	N	1	P;P;P;P;P;B;P;P	0.50710	0.862;0.728;0.938;0.873;0.659;0.38;0.648;0.897	B;P;B;P;B;B;B;P	0.49853	0.188;0.447;0.188;0.544;0.403;0.121;0.095;0.624	T	0.19160	-1.0314	8	0.59425	D	0.04	.	.	.	.	.	165;141;121;141;165;141;141;165	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-6;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.;.;.	N	165;165;141;121;149	ENSP00000315477:K165N;ENSP00000346373:K165N;ENSP00000315407:K141N;ENSP00000204801:K121N	ENSP00000204801:K121N	K	-	3	2	CD209	7716657	0.001000	0.12720	0.005000	0.12908	0.033000	0.12548	1.031000	0.30165	0.506000	0.28125	0.298000	0.19748	AAG		0.552	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		6	230	1	0	0.00198382	1	0.00205262	6	230				
BRPF3	27154	broad.mit.edu	37	6	36169027	36169027	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:36169027A>G	ENST00000357641.6	+	2	1181	c.928A>G	c.(928-930)Att>Gtt	p.I310V	BRPF3_ENST00000339717.7_Missense_Mutation_p.I310V|BRPF3_ENST00000443324.2_Missense_Mutation_p.I310V|BRPF3_ENST00000534400.1_Missense_Mutation_p.I310V|BRPF3_ENST00000534694.1_Missense_Mutation_p.I310V|BRPF3_ENST00000543502.1_Missense_Mutation_p.I310V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	310					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTTGGAACCTATTGAGGGCAT	0.532																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(928-930)Att>Gtt		bromodomain and PHD finger containing, 3							76.0	67.0	70.0					6																	36169027		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36169027A>G	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.928A>G	6.37:g.36169027A>G	ENSP00000350267:p.Ile310Val					BRPF3_ENST00000534400.1_Missense_Mutation_p.I310V|BRPF3_ENST00000543502.1_Missense_Mutation_p.I310V|BRPF3_ENST00000534694.1_Missense_Mutation_p.I310V|BRPF3_ENST00000339717.7_Missense_Mutation_p.I310V|BRPF3_ENST00000443324.2_Missense_Mutation_p.I310V	p.I310V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	1181	+			310					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.928A>G	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553239	0.27739	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	5.79	4.64	0.57946	.	0.174617	0.51477	D	0.000092	T	0.04227	0.0117	L	0.27053	0.805	0.45194	D	0.998208	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12156	0.004;0.004;0.007	T	0.14035	-1.0487	10	0.51188	T	0.08	.	8.5432	0.33406	0.856:0.0:0.144:0.0	.	310;310;310	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	V	310	ENSP00000350267:I310V;ENSP00000345419:I310V;ENSP00000434501:I310V;ENSP00000445352:I310V;ENSP00000387368:I310V;ENSP00000436504:I310V	ENSP00000345419:I310V	I	+	1	0	BRPF3	36277005	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	3.447000	0.52936	2.208000	0.71279	0.460000	0.39030	ATT		0.532	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		12	85	0	0	0	1	0	12	85				
DST	667	broad.mit.edu	37	6	56482206	56482206	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:56482206T>C	ENST00000370765.6	-	24	6166	c.6059A>G	c.(6058-6060)aAc>aGc	p.N2020S	DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATACTGCTTGTTCTTAGCTAT	0.348																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6058-6060)aAc>aGc		dystonin							199.0	199.0	199.0					6																	56482206		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56482206T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6059A>G	6.37:g.56482206T>C	ENSP00000359801:p.Asn2020Ser					DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron	p.N2020S	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	6166	-	Lung NSC(77;0.103)		1423					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6059A>G	CCDS4959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.687|5.687	0.311243|0.311243	0.10789|0.10789	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000370765|ENST00000522360	T|.	0.74526|.	-0.85|.	5.55|5.55	-2.6|-2.6	0.06190|0.06190	.|.	.|.	.|.	.|.	.|.	T|T	0.31263|0.31263	0.0791|0.0791	.|.	.|.	.|.	0.09310|.	N|.	0.999998|.	B|.	0.12013|.	0.005|.	B|.	0.11329|.	0.006|.	T|T	0.31447|0.31447	-0.9943|-0.9943	7|3	0.10377|.	T|.	0.69|.	.|.	11.9714|11.9714	0.53065|0.53065	0.0:0.4523:0.0:0.5477|0.0:0.4523:0.0:0.5477	.|.	2020|.	Q03001-3|.	.|.	S|A	2020|108	ENSP00000359801:N2020S|.	ENSP00000359801:N2020S|.	N|T	-|-	2|1	0|0	DST|DST	56590165|56590165	0.944000|0.944000	0.32072|0.32072	0.990000|0.990000	0.47175|0.47175	0.995000|0.995000	0.86356|0.86356	-0.043000|-0.043000	0.12043|0.12043	-0.348000|-0.348000	0.08286|0.08286	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.348	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		30	124	0	0	0	1	0	30	124				
ABCA4	24	broad.mit.edu	37	1	94506780	94506780	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:94506780T>C	ENST00000370225.3	-	23	3593	c.3507A>G	c.(3505-3507)caA>caG	p.Q1169Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1169					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCCTTTCCTTTGGCTCTGGA	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3505-3507)caA>caG		ATP-binding cassette, sub-family A (ABC1), member 4							111.0	104.0	106.0					1																	94506780		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94506780T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3507A>G	1.37:g.94506780T>C							p.Q1169Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	23	3593	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1169					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3507A>G	CCDS747.1																																																																																				0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		6	44	0	0	0	1	0	6	44				
CSH1	1442	broad.mit.edu	37	17	61972422	61972422	+	Missense_Mutation	SNP	A	A	G	rs17854931		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:61972422A>G	ENST00000316193.8	-	5	755	c.614T>C	c.(613-615)aTg>aCg	p.M205T	CSH1_ENST00000453363.3_Missense_Mutation_p.M110T|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	205						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCACTGCACCATGCGCAGGAA	0.587									Russell-Silver syndrome																													ENST00000316193.8																			0				central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(613-615)aTg>aCg		chorionic somatomammotropin hormone 1 (placental lactogen)							95.0	86.0	89.0					17																	61972422		2199	4298	6497	SO:0001583	missense	1442	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972422A>G	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.614T>C	17.37:g.61972422A>G	ENSP00000316416:p.Met205Thr					CSH1_ENST00000453363.3_Missense_Mutation_p.M110T|CSH1_ENST00000329882.8_3'UTR	p.M205T	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN			5	755	-			205					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.614T>C	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	a	0.743	-0.775573	0.02951	.	.	ENSG00000136488	ENST00000316193;ENST00000453363	D;D	0.88896	-2.44;-2.44	2.56	1.44	0.22558	.	.	.	.	.	T	0.75613	0.3873	N	0.08118	0	0.26388	N	0.976626	B	0.06786	0.001	B	0.12156	0.007	T	0.63976	-0.6515	9	0.46703	T	0.11	.	6.7181	0.23314	0.8744:0.0:0.1256:0.0	rs17854931	110	B1A4H2	.	T	205;110	ENSP00000316416:M205T;ENSP00000402517:M110T	ENSP00000316416:M205T	M	-	2	0	CSH1	59326154	1.000000	0.71417	0.973000	0.42090	0.017000	0.09413	3.428000	0.52792	0.220000	0.20860	-0.946000	0.02672	ATG		0.587	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		23	104	0	0	0	1	0	23	104				
PTPRD	5789	broad.mit.edu	37	9	8518352	8518352	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:8518352T>C	ENST00000381196.4	-	18	1582	c.1039A>G	c.(1039-1041)Aac>Gac	p.N347D	PTPRD_ENST00000360074.4_Missense_Mutation_p.N334D|PTPRD_ENST00000356435.5_Missense_Mutation_p.N347D|PTPRD_ENST00000397611.3_Missense_Mutation_p.N344D|PTPRD_ENST00000486161.1_Missense_Mutation_p.N347D|PTPRD_ENST00000397606.3_Missense_Mutation_p.N337D|PTPRD_ENST00000355233.5_Missense_Mutation_p.N347D|PTPRD_ENST00000537002.1_Missense_Mutation_p.N344D|PTPRD_ENST00000397617.3_Missense_Mutation_p.N337D|PTPRD_ENST00000358503.5_Missense_Mutation_p.N334D|PTPRD_ENST00000540109.1_Missense_Mutation_p.N347D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	347	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCTCAGGGTTCCCAGAGTCC	0.468										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1039-1041)Aac>Gac		protein tyrosine phosphatase, receptor type, D							90.0	99.0	96.0					9																	8518352		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518352T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1039A>G	9.37:g.8518352T>C	ENSP00000370593:p.Asn347Asp	TSP Lung(15;0.13)				PTPRD_ENST00000358503.5_Missense_Mutation_p.N334D|PTPRD_ENST00000486161.1_Missense_Mutation_p.N347D|PTPRD_ENST00000356435.5_Missense_Mutation_p.N347D|PTPRD_ENST00000397617.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397606.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397611.3_Missense_Mutation_p.N344D|PTPRD_ENST00000355233.5_Missense_Mutation_p.N347D|PTPRD_ENST00000537002.1_Missense_Mutation_p.N344D|PTPRD_ENST00000540109.1_Missense_Mutation_p.N347D|PTPRD_ENST00000360074.4_Missense_Mutation_p.N334D	p.N347D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	1582	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	347			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1039A>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397170	0.42512	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	L	0.59436	1.845	0.80722	D	1	P;D;D;D;B;D;D;D;P	0.76494	0.949;0.998;0.996;0.998;0.005;0.995;0.985;0.999;0.923	P;D;D;D;B;D;D;D;P	0.87578	0.902;0.991;0.968;0.981;0.021;0.962;0.91;0.998;0.734	T	0.68194	-0.5473	9	.	.	.	.	15.0411	0.71791	0.0:0.0:0.0:1.0	.	337;341;347;347;344;344;334;347;347	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	347;347;334;334;347;337;344;344;347;347;347;337	ENSP00000370593:N347D;ENSP00000348812:N347D;ENSP00000353187:N334D;ENSP00000351293:N334D;ENSP00000347373:N347D;ENSP00000380741:N337D;ENSP00000380735:N344D;ENSP00000440515:N344D;ENSP00000438164:N347D;ENSP00000417093:N347D;ENSP00000380731:N337D	.	N	-	1	0	PTPRD	8508352	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.991000	0.88244	1.957000	0.56846	0.377000	0.23210	AAC		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			15	70	0	0	0	1	0	15	70				
GABRA1	2554	broad.mit.edu	37	5	161302606	161302606	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:161302606T>G	ENST00000428797.2	+	7	872	c.517T>G	c.(517-519)Ttc>Gtc	p.F173V	GABRA1_ENST00000437025.2_Missense_Mutation_p.F173V|GABRA1_ENST00000444819.1_Missense_Mutation_p.F173V|GABRA1_ENST00000420560.1_Missense_Mutation_p.F173V|GABRA1_ENST00000393943.4_Missense_Mutation_p.F173V|GABRA1_ENST00000023897.6_Missense_Mutation_p.F173V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	173					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTGGAGGACTTCCCTATGGA	0.378																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(517-519)Ttc>Gtc		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						184.0	181.0	182.0					5																	161302606		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161302606T>G		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.517T>G	5.37:g.161302606T>G	ENSP00000393097:p.Phe173Val					GABRA1_ENST00000444819.1_Missense_Mutation_p.F173V|GABRA1_ENST00000437025.2_Missense_Mutation_p.F173V|GABRA1_ENST00000023897.6_Missense_Mutation_p.F173V|GABRA1_ENST00000393943.4_Missense_Mutation_p.F173V|GABRA1_ENST00000420560.1_Missense_Mutation_p.F173V	p.F173V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	7	872	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	173					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.517T>G	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807432	0.90623	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.050655	0.85682	D	0.000000	D	0.95614	0.8574	H	0.97440	4.005	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	D	0.97131	0.9818	10	0.87932	D	0	.	15.36	0.74464	0.0:0.0:0.0:1.0	.	173	P14867	GBRA1_HUMAN	V	173	ENSP00000023897:F173V;ENSP00000393097:F173V;ENSP00000377517:F173V;ENSP00000415441:F173V;ENSP00000408041:F173V;ENSP00000414232:F173V	ENSP00000023897:F173V	F	+	1	0	GABRA1	161235184	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.942000	0.87708	2.098000	0.63641	0.528000	0.53228	TTC		0.378	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		23	72	0	0	0	1	0	23	72				
FAT3	120114	broad.mit.edu	37	11	92523356	92523356	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:92523356C>T	ENST00000298047.6	+	7	4600	c.4583C>T	c.(4582-4584)gCc>gTc	p.A1528V	FAT3_ENST00000409404.2_Missense_Mutation_p.A1528V|FAT3_ENST00000525166.1_Missense_Mutation_p.A1378V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1528	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACCATGAGGCCCAGGACAAG	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4582-4584)gCc>gTc		FAT atypical cadherin 3							139.0	134.0	135.0					11																	92523356		2012	4183	6195	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523356C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4583C>T	11.37:g.92523356C>T	ENSP00000298047:p.Ala1528Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A1378V|FAT3_ENST00000409404.2_Missense_Mutation_p.A1528V	p.A1528V			Q8TDW7	FAT3_HUMAN			7	4600	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1528			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4583C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.231551	0.95207	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01804	4.63;4.63;4.63	6.17	6.17	0.99709	.	.	.	.	.	T	0.06325	0.0163	L	0.31845	0.965	0.80722	D	1	D	0.71674	0.998	D	0.65140	0.932	T	0.53187	-0.8474	9	0.33940	T	0.23	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1528	Q8TDW7-3	.	V	1528;1528;1378	ENSP00000298047:A1528V;ENSP00000387040:A1528V;ENSP00000432586:A1378V	ENSP00000298047:A1528V	A	+	2	0	FAT3	92163004	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.848000	0.69458	2.941000	0.99782	0.655000	0.94253	GCC		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	146	0	0	0	1	0	19	146				
FGD6	55785	broad.mit.edu	37	12	95603235	95603235	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:95603235T>C	ENST00000343958.4	-	2	2048	c.1825A>G	c.(1825-1827)Atg>Gtg	p.M609V	FGD6_ENST00000549499.1_Missense_Mutation_p.M609V|FGD6_ENST00000546711.1_Missense_Mutation_p.M609V|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	609					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCCACATCCATAGCAGATAAC	0.418																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1825-1827)Atg>Gtg		FYVE, RhoGEF and PH domain containing 6							122.0	120.0	121.0					12																	95603235		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603235T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1825A>G	12.37:g.95603235T>C	ENSP00000344446:p.Met609Val					FGD6_ENST00000549499.1_Missense_Mutation_p.M609V|FGD6_ENST00000546711.1_Missense_Mutation_p.M609V	p.M609V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	2048	-			609					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1825A>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	T	0.035	-1.311319	0.01342	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.58797	0.41;0.31;0.42	6.04	-0.963	0.10330	.	0.592591	0.15128	N	0.279020	T	0.25644	0.0624	N	0.03324	-0.35	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.29058	-1.0024	10	0.02654	T	1	-2.011	10.8096	0.46538	0.0:0.5762:0.0:0.4238	.	609	Q6ZV73	FGD6_HUMAN	V	609	ENSP00000344446:M609V;ENSP00000450342:M609V;ENSP00000449005:M609V	ENSP00000344446:M609V	M	-	1	0	FGD6	94127366	0.002000	0.14202	0.835000	0.33067	0.847000	0.48162	-0.124000	0.10595	-0.196000	0.10366	-0.232000	0.12228	ATG		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		39	140	0	0	0	1	0	39	140				
NAGA	4668	broad.mit.edu	37	22	42461828	42461828	+	Missense_Mutation	SNP	C	C	T	rs545476351		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr22:42461828C>T	ENST00000396398.3	-	6	1205	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	NAGA_ENST00000402937.1_Missense_Mutation_p.V225M|NAGA_ENST00000403363.1_Missense_Mutation_p.V225M	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	225					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ATGGAGAGCACGCTCCACCAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19678	0.0		0.0	False		,,,				2504	0.001					ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(673-675)Gtg>Atg		N-acetylgalactosaminidase, alpha-							122.0	93.0	103.0					22																	42461828		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42461828C>T		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.673G>A	22.37:g.42461828C>T	ENSP00000379680:p.Val225Met					NAGA_ENST00000402937.1_Missense_Mutation_p.V225M|NAGA_ENST00000403363.1_Missense_Mutation_p.V225M	p.V225M	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN			6	1205	-			225						Missense_Mutation	SNP	ENST00000396398.3	37	c.673G>A	CCDS14030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.05|18.05	3.536520|3.536520	0.65085|0.65085	.|.	.|.	ENSG00000198951|ENSG00000198951	ENST00000481068|ENST00000396398;ENST00000403363;ENST00000402937	.|D;D;D	.|0.99857	.|-7.22;-7.22;-7.22	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99600|0.99600	0.9855|0.9855	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.56088	.|0.791	D|D	0.99963|0.99963	1.1773|1.1773	5|10	.|0.16420	.|T	.|0.52	-26.0806|-26.0806	18.0628|18.0628	0.89382|0.89382	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|225	.|P17050	.|NAGAB_HUMAN	H|M	102|225	.|ENSP00000379680:V225M;ENSP00000385283:V225M;ENSP00000384603:V225M	.|ENSP00000379680:V225M	R|V	-|-	2|1	0|0	NAGA|NAGA	40791774|40791774	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.075000|0.075000	0.17131|0.17131	4.660000|4.660000	0.61511|0.61511	2.268000|2.268000	0.75426|0.75426	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.577	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			7	40	0	0	0	1	0	7	40				
PXDNL	137902	broad.mit.edu	37	8	52321748	52321748	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr8:52321748G>A	ENST00000356297.4	-	17	2536	c.2436C>T	c.(2434-2436)caC>caT	p.H812H	PXDNL_ENST00000543296.1_Silent_p.H812H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	812					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCCAAGTCGTGCTCTAGAA	0.677																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2434-2436)caC>caT		peroxidasin homolog (Drosophila)-like							15.0	19.0	18.0					8																	52321748		2124	4234	6358	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321748G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2436C>T	8.37:g.52321748G>A						PXDNL_ENST00000543296.1_Silent_p.H812H	p.H812H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2536	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	812					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2436C>T	CCDS47855.1																																																																																				0.677	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	16	0	0	0	1	0	3	16				
CFAP69	79846	broad.mit.edu	37	7	89909017	89909017	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:89909017G>C	ENST00000389297.4	+	12	1433	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	C7orf63_ENST00000497910.1_Missense_Mutation_p.L376F|C7orf63_ENST00000316089.8_Missense_Mutation_p.L394F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		394										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGTTATTTTGGCTTTGTTTA	0.323											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1180-1182)ttG>ttC		chromosome 7 open reading frame 63							62.0	61.0	61.0					7																	89909017		1816	4077	5893	SO:0001583	missense	79846						binding	g.chr7:89909017G>C																												ENST00000389297.4:c.1182G>C	7.37:g.89909017G>C	ENSP00000373948:p.Leu394Phe		OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1270	C7orf63_ENST00000497910.1_Missense_Mutation_p.L376F|C7orf63_ENST00000316089.8_Missense_Mutation_p.L394F	p.L394F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			12	1433	+			394					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1182G>C	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699694	0.48307	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.48836	0.8;0.8;0.8;0.81	5.61	4.54	0.55810	Armadillo-type fold (1);	0.532867	0.18874	N	0.128772	T	0.60011	0.2236	L	0.57536	1.79	0.34373	D	0.692225	P;P;P	0.52170	0.951;0.859;0.631	P;B;B	0.59056	0.851;0.246;0.246	T	0.70212	-0.4934	10	0.59425	D	0.04	-0.104	13.1481	0.59474	0.1217:0.0:0.8783:0.0	.	376;394;394	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	F	394;394;376;277	ENSP00000373948:L394F;ENSP00000321753:L394F;ENSP00000419549:L376F;ENSP00000392365:L277F	ENSP00000321753:L394F	L	+	3	2	C7orf63	89746953	1.000000	0.71417	0.985000	0.45067	0.651000	0.38670	2.724000	0.47285	2.632000	0.89209	0.555000	0.69702	TTG		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			8	37	0	0	0	1	0	8	37				
SNHG14	104472715	broad.mit.edu	37	15	25496006	25496006	+	RNA	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25496006G>C	ENST00000452731.1	+	0	0				SNORD115-44_ENST00000365391.1_RNA|SNORD115-43_ENST00000365503.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GCCCTTGGTTGGGTCAATGAT	0.522																																						ENST00000365391.1																			0																				332.0	328.0	329.0					15																	25496006		876	1991	2867			100033818							g.chr15:25496006G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25496006G>C								NR_003359.1						0	1	+									RNA	SNP	ENST00000452731.1	37																																																																																						0.522	SNHG14-008	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126735.1			68	277	0	0	0	1	0	68	277				
BCCIP	56647	broad.mit.edu	37	10	127512150	127512150	+	Silent	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:127512150T>A	ENST00000278100.6	+	1	36	c.24T>A	c.(22-24)cgT>cgA	p.R8R	BCCIP_ENST00000299130.3_Silent_p.R8R|BCCIP_ENST00000368759.5_Silent_p.R8R|UROS_ENST00000368778.3_5'Flank|UROS_ENST00000368797.4_5'Flank|BCCIP_ENST00000429863.2_Silent_p.R8R|UROS_ENST00000368774.1_5'Flank	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	8					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTAAGCGGCGTGCCGTGGAAA	0.607																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(22-24)cgT>cgA		BRCA2 and CDKN1A interacting protein							108.0	112.0	111.0					10																	127512150		2203	4300	6503	SO:0001819	synonymous_variant	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127512150T>A	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.24T>A	10.37:g.127512150T>A						BCCIP_ENST00000429863.2_Silent_p.R8R|BCCIP_ENST00000278100.6_Silent_p.R8R|BCCIP_ENST00000368759.5_Silent_p.R8R	p.R8R	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN			1	36	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	8					B3KP45|Q8ND15|Q96GC4|Q9P288	Silent	SNP	ENST00000278100.6	37	c.24T>A	CCDS7651.1																																																																																				0.607	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			32	184	0	0	0	1	0	32	184				
ADAR	103	broad.mit.edu	37	1	154561914	154561914	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:154561914G>C	ENST00000368474.4	-	9	2892	c.2693C>G	c.(2692-2694)tCt>tGt	p.S898C	ADAR_ENST00000368471.3_Missense_Mutation_p.S603C|ADAR_ENST00000292205.5_Missense_Mutation_p.S941C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	898	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGGCTGAGAGAATCTCCTTT	0.468																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2692-2694)tCt>tGt		adenosine deaminase, RNA-specific							99.0	88.0	92.0					1																	154561914		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154561914G>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2693C>G	1.37:g.154561914G>C	ENSP00000357459:p.Ser898Cys					ADAR_ENST00000292205.5_Missense_Mutation_p.S941C|ADAR_ENST00000368471.3_Missense_Mutation_p.S603C	p.S898C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	9	2892	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		898			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2693C>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880976	0.72294	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.41	4.43	0.53597	Adenosine deaminase/editase (3);	0.111624	0.64402	D	0.000012	D	0.91503	0.7317	L	0.27053	0.805	0.39376	D	0.966165	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.68943	0.929;0.961;0.956	D	0.90869	0.4744	10	0.45353	T	0.12	-17.4279	11.3852	0.49780	0.0:0.0:0.6558:0.3442	.	853;872;898	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	941;898;603;867	ENSP00000292205:S941C;ENSP00000357459:S898C;ENSP00000357456:S603C;ENSP00000431794:S867C	ENSP00000292205:S941C	S	-	2	0	ADAR	152828538	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	6.423000	0.73361	2.826000	0.97356	0.655000	0.94253	TCT		0.468	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		10	33	0	0	0	1	0	10	33				
NT5C1B	93034	broad.mit.edu	37	2	18765857	18765857	+	Missense_Mutation	SNP	C	C	T	rs557329924		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:18765857C>T	ENST00000359846.2	-	5	903	c.826G>A	c.(826-828)Gac>Aac	p.D276N	NT5C1B_ENST00000600945.1_Missense_Mutation_p.D276N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D276N|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Missense_Mutation_p.D216N|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	276					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCGTAGTCGTCCTCGTCCTCC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12922	0.0		0.0	False		,,,				2504	0.0					ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(646-648)Gac>Aac		5'-nucleotidase, cytosolic IB							17.0	19.0	19.0					2																	18765857		2202	4300	6502	SO:0001583	missense	93034							g.chr2:18765857C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.826G>A	2.37:g.18765857C>T	ENSP00000352904:p.Asp276Asn					NT5C1B_ENST00000600945.1_Missense_Mutation_p.D276N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D276N|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D276N	p.D216N	NM_033253.3	NP_150278.2					4	746	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.646G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267826	0.40095	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.90504	-2.68	4.35	2.36	0.29203	.	1.016080	0.07846	N	0.963837	D	0.83294	0.5223	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.19445	0.036;0.036;0.031;0.036;0.0;0.004;0.029;0.017;0.029	B;B;B;B;B;B;B;B;B	0.20577	0.01;0.019;0.007;0.019;0.001;0.009;0.015;0.013;0.03	T	0.73069	-0.4099	10	0.54805	T	0.06	-42.9086	7.8885	0.29665	0.0:0.7459:0.1622:0.092	.	259;293;216;259;218;68;216;276;276	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	N	276;218;216;276	ENSP00000412639:D218N	ENSP00000305979:D216N	D	-	1	0	NT5C1B-RDH14;NT5C1B	18629338	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	0.062000	0.14389	1.145000	0.42336	0.462000	0.41574	GAC		0.682	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			4	14	0	0	0	1	0	4	14				
RGS7	6000	broad.mit.edu	37	1	240975222	240975222	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:240975222A>T	ENST00000407727.1	-	13	1077	c.1078T>A	c.(1078-1080)Tta>Ata	p.L360I	RGS7_ENST00000348120.2_Missense_Mutation_p.L307I|RGS7_ENST00000331110.7_Missense_Mutation_p.L334I|RGS7_ENST00000366563.1_Missense_Mutation_p.L360I|RGS7_ENST00000446183.2_Missense_Mutation_p.L276I|RGS7_ENST00000401882.1_Missense_Mutation_p.L307I|RGS7_ENST00000366565.1_Missense_Mutation_p.L360I|RGS7_ENST00000366562.4_Missense_Mutation_p.L360I|RGS7_ENST00000366564.1_Missense_Mutation_p.L360I			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	360	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L360V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTACCTTAAATTTTCCGAG	0.388																																						ENST00000366565.1																			1	Substitution - Missense(1)	p.L360V(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1078-1080)Tta>Ata		regulator of G-protein signaling 7							66.0	71.0	69.0					1																	240975222		2203	4299	6502	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240975222A>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1078T>A	1.37:g.240975222A>T	ENSP00000384428:p.Leu360Ile					RGS7_ENST00000331110.7_Missense_Mutation_p.L334I|RGS7_ENST00000366562.4_Missense_Mutation_p.L360I|RGS7_ENST00000366563.1_Missense_Mutation_p.L360I|RGS7_ENST00000401882.1_Missense_Mutation_p.L307I|RGS7_ENST00000366564.1_Missense_Mutation_p.L360I|RGS7_ENST00000446183.2_Missense_Mutation_p.L276I|RGS7_ENST00000348120.2_Missense_Mutation_p.L307I|RGS7_ENST00000407727.1_Missense_Mutation_p.L360I	p.L360I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		14	1459	-		all_cancers(173;0.0131)	360			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1078T>A		.	.	.	.	.	.	.	.	.	.	A	18.44	3.623965	0.66901	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.8	5.8	0.92144	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.42404	0.1201	L	0.28458	0.855	0.52099	D	0.999945	P;B;B;D;B;P;B	0.52996	0.848;0.308;0.388;0.957;0.388;0.952;0.442	D;P;P;D;P;P;P	0.67725	0.953;0.69;0.765;0.953;0.765;0.879;0.849	T	0.22626	-1.0211	10	0.21014	T	0.42	.	9.7587	0.40519	0.9239:0.0:0.0761:0.0	.	276;334;307;360;360;360;360	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	I	334;360;360;360;191;307;276;360;360;307	ENSP00000331485:L334I;ENSP00000355523:L360I;ENSP00000355522:L360I;ENSP00000355521:L360I;ENSP00000404399:L191I;ENSP00000341242:L307I;ENSP00000390138:L276I;ENSP00000355520:L360I;ENSP00000384428:L360I;ENSP00000385508:L307I	ENSP00000331485:L334I	L	-	1	2	RGS7	239041845	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.635000	0.54309	2.226000	0.72624	0.459000	0.35465	TTA		0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		18	65	0	0	0	1	0	18	65				
CFAP46	54777	broad.mit.edu	37	10	134624471	134624471	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:134624471C>A	ENST00000368586.5	-	56	7666	c.7566G>T	c.(7564-7566)gaG>gaT	p.E2522D	TTC40_ENST00000263170.5_Missense_Mutation_p.E683D	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTCCACGCTCTCCATGTGCC	0.662																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7564-7566)gaG>gaT		tetratricopeptide repeat domain 40							79.0	54.0	62.0					10																	134624471		2200	4299	6499	SO:0001583	missense	54777							g.chr10:134624471C>A																												ENST00000368586.5:c.7566G>T	10.37:g.134624471C>A	ENSP00000357575:p.Glu2522Asp					TTC40_ENST00000263170.5_Missense_Mutation_p.E683D	p.E2522D	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			56	7666	-			683						Missense_Mutation	SNP	ENST00000368586.5	37	c.7566G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329593	0.24167	.	.	ENSG00000171811	ENST00000435957;ENST00000368586;ENST00000263170	T;T	0.35421	1.31;1.31	2.86	-1.54	0.08584	.	0.614323	0.13598	N	0.376086	T	0.25717	0.0626	L	0.55481	1.735	0.09310	N	0.999999	P	0.44139	0.827	B	0.40982	0.345	T	0.13442	-1.0509	10	0.27785	T	0.31	.	2.815	0.05453	0.2025:0.4152:0.0:0.3823	.	683	Q8IYW2	CJ092_HUMAN	D	105;2522;683	ENSP00000357575:E2522D;ENSP00000263170:E683D	ENSP00000263170:E683D	E	-	3	2	C10orf93	134474461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.330000	0.07925	-0.355000	0.08199	-0.500000	0.04577	GAG		0.662	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			3	18	1	0	0.004672	1	0.00475164	3	18				
SLC10A6	345274	broad.mit.edu	37	4	87744876	87744876	+	Missense_Mutation	SNP	G	G	C	rs146262257		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:87744876G>C	ENST00000273905.6	-	6	1246	c.1099C>G	c.(1099-1101)Ctc>Gtc	p.L367V	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	367					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACTGGCTCGAGAGCCCTGTGG	0.542																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(1099-1101)Ctc>Gtc		solute carrier family 10 (sodium/bile acid cotransporter), member 6							116.0	97.0	103.0					4																	87744876		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87744876G>C	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1099C>G	4.37:g.87744876G>C	ENSP00000273905:p.Leu367Val						p.L367V	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	6	1246	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	367					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.1099C>G	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	2.024	-0.424084	0.04734	.	.	ENSG00000145283	ENST00000273905	T	0.07800	3.16	3.39	-0.548	0.11833	.	3.522020	0.00769	N	0.001195	T	0.06005	0.0156	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35798	-0.9774	10	0.08381	T	0.77	1.8874	7.2225	0.25997	0.1098:0.5431:0.3471:0.0	.	367	Q3KNW5	SOAT_HUMAN	V	367	ENSP00000273905:L367V	ENSP00000273905:L367V	L	-	1	0	SLC10A6	87963900	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.237000	0.08990	-0.143000	0.11334	0.585000	0.79938	CTC		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		7	37	0	0	0	1	0	7	37				
ZNF234	10780	broad.mit.edu	37	19	44661768	44661768	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:44661768T>C	ENST00000426739.2	+	6	1857	c.1599T>C	c.(1597-1599)gtT>gtC	p.V533V	ZNF234_ENST00000592437.1_Silent_p.V533V	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATCAGAGAGTTCACAGTGGGG	0.463																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(1597-1599)gtT>gtC		zinc finger protein 234							84.0	91.0	88.0					19																	44661768		2186	4293	6479	SO:0001819	synonymous_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661768T>C	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1599T>C	19.37:g.44661768T>C						ZNF234_ENST00000592437.1_Silent_p.V533V	p.V533V	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1857	+		Prostate(69;0.0435)	533					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	c.1599T>C	CCDS46101.1																																																																																				0.463	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			26	98	0	0	0	1	0	26	98				
ZNF677	342926	broad.mit.edu	37	19	53740266	53740266	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:53740266T>G	ENST00000598513.1	-	5	1864	c.1714A>C	c.(1714-1716)Aaa>Caa	p.K572Q	ZNF677_ENST00000333952.4_Missense_Mutation_p.K572Q	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCATTATATTTGATATGTTTT	0.294																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1714-1716)Aaa>Caa		zinc finger protein 677							68.0	62.0	64.0					19																	53740266		2202	4300	6502	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740266T>G	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1714A>C	19.37:g.53740266T>G	ENSP00000469391:p.Lys572Gln					ZNF677_ENST00000598513.1_Missense_Mutation_p.K572Q	p.K572Q			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1879	-			572						Missense_Mutation	SNP	ENST00000598513.1	37	c.1714A>C	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939680	0.34189	.	.	ENSG00000197928	ENST00000333952	T	0.10477	2.87	2.44	2.44	0.29823	.	.	.	.	.	T	0.09247	0.0228	L	0.39147	1.195	0.09310	N	1	P	0.41978	0.767	B	0.37780	0.258	T	0.20405	-1.0276	9	0.44086	T	0.13	.	8.7483	0.34600	0.0:0.0:0.0:1.0	.	572	Q86XU0	ZN677_HUMAN	Q	572	ENSP00000334394:K572Q	ENSP00000334394:K572Q	K	-	1	0	ZNF677	58432078	0.000000	0.05858	0.135000	0.22099	0.040000	0.13550	-0.359000	0.07632	1.376000	0.46267	0.533000	0.62120	AAA		0.294	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		4	16	0	0	0	1	0	4	16				
LILRB4	11006	broad.mit.edu	37	19	55175417	55175417	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:55175417T>G	ENST00000391736.1	+	5	591	c.276T>G	c.(274-276)taT>taG	p.Y92*	LILRB4_ENST00000391734.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.Y92*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	92	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAGAGGACTATGCAGGGAGAT	0.572																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(274-276)taT>taG		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							291.0	253.0	266.0					19																	55175417		2203	4300	6503	SO:0001587	stop_gained	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175417T>G	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.276T>G	19.37:g.55175417T>G	ENSP00000375616:p.Tyr92*					LILRB4_ENST00000391734.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.Y92*	p.Y92*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	5	591	+			92			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Nonsense_Mutation	SNP	ENST00000391736.1	37	c.276T>G	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	T	7.803	0.714120	0.15306	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	.	.	.	2.43	0.163	0.14986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6826	0.12743	0.0:0.3307:0.0:0.6693	.	.	.	.	X	92	.	ENSP00000270452:Y92X	Y	+	3	2	LILRB4	59867229	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.736000	0.01845	-0.170000	0.10816	-0.866000	0.03004	TAT		0.572	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			34	209	0	0	0	1	0	34	209				
A1BG	1	broad.mit.edu	37	19	58863848	58863848	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:58863848C>T	ENST00000263100.3	-	4	475	c.414G>A	c.(412-414)gtG>gtA	p.V138V	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	138	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CACCTCGGCACACTGCTGTTG	0.627																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(412-414)gtG>gtA		alpha-1-B glycoprotein							102.0	107.0	105.0					19																	58863848		2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58863848C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.414G>A	19.37:g.58863848C>T						A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	p.V138V	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	4	475	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	138			Ig-like V-type 2.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.414G>A	CCDS12976.1																																																																																				0.627	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		49	193	0	0	0	1	0	49	193				
RUFY2	55680	broad.mit.edu	37	10	70141059	70141059	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:70141059G>C	ENST00000602465.1	-	11	1137	c.1037C>G	c.(1036-1038)aCt>aGt	p.T346S	RUFY2_ENST00000399200.2_Missense_Mutation_p.T312S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288S|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Missense_Mutation_p.T381S			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	395						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCTATCAGAGTATCTTGTTT	0.363																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1141-1143)aCt>aGt		RUN and FYVE domain containing 2							223.0	201.0	208.0					10																	70141059		1883	4128	6011	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70141059G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1037C>G	10.37:g.70141059G>C	ENSP00000473462:p.Thr346Ser					RUFY2_ENST00000399200.2_Missense_Mutation_p.T312S|RUFY2_ENST00000602465.1_Missense_Mutation_p.T346S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288S|RUFY2_ENST00000472394.2_5'UTR	p.T381S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			11	1468	-			395					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1142C>G		.	.	.	.	.	.	.	.	.	.	G	28.5	4.926713	0.92319	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	T;T;T	0.54071	0.59;1.54;1.05	5.29	5.29	0.74685	.	0.051123	0.85682	D	0.000000	T	0.68412	0.2998	L	0.52364	1.645	0.80722	D	1	D;D;B;B	0.67145	0.993;0.996;0.229;0.433	D;D;B;B	0.73380	0.956;0.98;0.199;0.269	T	0.67448	-0.5668	10	0.51188	T	0.08	.	19.1286	0.93396	0.0:0.0:1.0:0.0	.	288;346;312;381	B4DFR0;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	S	381;312;288	ENSP00000373420:T381S;ENSP00000382151:T312S;ENSP00000404986:T288S	ENSP00000373420:T381S	T	-	2	0	RUFY2	69811065	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.171000	0.77595	2.757000	0.94681	0.585000	0.79938	ACT		0.363	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		17	86	0	0	0	1	0	17	86				
TEKT1	83659	broad.mit.edu	37	17	6719166	6719166	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:6719166A>T	ENST00000338694.2	-	4	601	c.472T>A	c.(472-474)Tcc>Acc	p.S158T	TEKT1_ENST00000535086.1_Missense_Mutation_p.S12T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	158						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATCTGCTCGGAAGCCTCCTCC	0.537																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(472-474)Tcc>Acc		tektin 1							143.0	105.0	118.0					17																	6719166		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6719166A>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.472T>A	17.37:g.6719166A>T	ENSP00000341346:p.Ser158Thr					TEKT1_ENST00000535086.1_Missense_Mutation_p.S12T	p.S158T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			4	601	-		Myeloproliferative disorder(207;0.0255)	158					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.472T>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	A	0.216	-1.032474	0.02029	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02323	4.34;4.34	5.28	-2.54	0.06307	.	0.873824	0.09856	N	0.746913	T	0.01092	0.0036	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48969	-0.8987	10	0.11485	T	0.65	.	7.5625	0.27860	0.3311:0.0978:0.0:0.5711	.	158	Q969V4	TEKT1_HUMAN	T	158;12	ENSP00000341346:S158T;ENSP00000444142:S12T	ENSP00000341346:S158T	S	-	1	0	TEKT1	6659890	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.665000	0.05286	-0.868000	0.04058	-0.331000	0.08364	TCC		0.537	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		10	28	0	0	0	1	0	10	28				
OCA2	4948	broad.mit.edu	37	15	28261263	28261263	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:28261263C>G	ENST00000354638.3	-	8	1032	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	OCA2_ENST00000353809.5_Missense_Mutation_p.E293Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E293Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	293					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCAGTACCTCAAAGGTCCTG	0.502									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(877-879)Gag>Cag		oculocutaneous albinism II							172.0	121.0	139.0					15																	28261263		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28261263C>G		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.877G>C	15.37:g.28261263C>G	ENSP00000346659:p.Glu293Gln					OCA2_ENST00000353809.5_Missense_Mutation_p.E293Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E293Q	p.E293Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	8	1032	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	293					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.877G>C	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986625	0.35036	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578	D;D;D;D	0.94793	-2.71;-3.05;-2.73;-3.52	4.76	4.76	0.60689	.	0.239792	0.39475	N	0.001356	D	0.92427	0.7596	L	0.54323	1.7	0.37515	D	0.917289	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.004	D	0.91112	0.4923	10	0.45353	T	0.12	-15.7485	15.6286	0.76882	0.0:1.0:0.0:0.0	.	293;293	Q04671-2;Q04671	.;P_HUMAN	Q	293;293;293;215	ENSP00000346659:E293Q;ENSP00000261276:E293Q;ENSP00000372457:E293Q;ENSP00000414425:E215Q	ENSP00000261276:E293Q	E	-	1	0	OCA2	25934858	1.000000	0.71417	0.992000	0.48379	0.338000	0.28826	2.001000	0.40825	2.332000	0.79248	0.650000	0.86243	GAG		0.502	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		11	43	0	0	0	1	0	11	43				
ADCY5	111	broad.mit.edu	37	3	123166800	123166800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:123166800C>T	ENST00000462833.1	-	1	1805	c.593G>A	c.(592-594)gGg>gAg	p.G198E		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	198					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		cgcgccgggccccgcgcccgA	0.746																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(592-594)gGg>gAg		adenylate cyclase 5							4.0	5.0	4.0					3																	123166800		1991	3923	5914	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166800C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.593G>A	3.37:g.123166800C>T	ENSP00000419361:p.Gly198Glu						p.G198E	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	1805	-			198					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.593G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.664810	0.00765	.	.	ENSG00000173175	ENST00000462833	T	0.76316	-1.01	0.39	0.39	0.16275	.	0.642135	0.14563	N	0.311947	T	0.51295	0.1666	N	0.08118	0	0.47621	D	0.999478	B	0.22003	0.063	B	0.19666	0.026	T	0.47235	-0.9133	9	0.02654	T	1	.	.	.	.	.	198	O95622	ADCY5_HUMAN	E	198	ENSP00000419361:G198E	ENSP00000419361:G198E	G	-	2	0	ADCY5	124649490	0.989000	0.36119	0.693000	0.30195	0.328000	0.28507	-0.239000	0.08965	0.455000	0.26910	0.186000	0.17326	GGG		0.746	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		6	13	0	0	0	1	0	6	13				
CPXM1	56265	broad.mit.edu	37	20	2776663	2776663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:2776663G>A	ENST00000380605.2	-	10	1451	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	463					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGGGCAATGGCAGGTGATGG	0.572																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1387-1389)Cca>Tca		carboxypeptidase X (M14 family), member 1							156.0	142.0	147.0					20																	2776663		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776663G>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1387C>T	20.37:g.2776663G>A	ENSP00000369979:p.Pro463Ser						p.P463S	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			10	1451	-			463					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1387C>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824939	0.50739	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.04603	3.59	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.939;0.998	T	0.00027	-1.2308	10	0.54805	T	0.06	-13.5686	16.484	0.84179	0.0:0.0:1.0:0.0	.	463;463	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	S	463;159	ENSP00000369979:P463S	ENSP00000369979:P463S	P	-	1	0	CPXM1	2724663	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	7.709000	0.84645	2.756000	0.94617	0.563000	0.77884	CCA		0.572	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		19	122	0	0	0	1	0	19	122				
SSPO	23145	broad.mit.edu	37	7	149497458	149497458	+	RNA	SNP	C	C	A	rs561105578		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:149497458C>A	ENST00000378016.2	+	0	7216							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCGTGGAACAGGCGCAGGT	0.687																																						ENST00000378016.2																			0													SCO-spondin							25.0	33.0	30.0					7																	149497458		2172	4260	6432			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497458C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497458C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7216	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	29	1	0	2.31682e-05	1	2.46852e-05	12	29				
KRT12	3859	broad.mit.edu	37	17	39021183	39021183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:39021183C>T	ENST00000251643.4	-	3	705	c.682G>A	c.(682-684)Gta>Ata	p.V228I	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	228	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TCGGCCTCTACGCCCTGGCGC	0.572																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(682-684)Gta>Ata		keratin 12							80.0	78.0	79.0					17																	39021183		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021183C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.682G>A	17.37:g.39021183C>T	ENSP00000251643:p.Val228Ile						p.V228I	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			3	705	-		Breast(137;0.000301)	228			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.682G>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327297	0.81690	.	.	ENSG00000187242	ENST00000251643	D	0.89617	-2.54	5.96	5.96	0.96718	Filament (1);	0.000000	0.44688	D	0.000422	D	0.96602	0.8891	H	0.95645	3.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.96963	0.9703	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	228	Q99456	K1C12_HUMAN	I	228	ENSP00000251643:V228I	ENSP00000251643:V228I	V	-	1	0	KRT12	36274709	1.000000	0.71417	0.960000	0.40013	0.121000	0.20230	4.970000	0.63742	2.832000	0.97577	0.655000	0.94253	GTA		0.572	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		21	74	0	0	0	1	0	21	74				
C3	718	broad.mit.edu	37	19	6702151	6702151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:6702151C>T	ENST00000245907.6	-	19	2519	c.2427G>A	c.(2425-2427)atG>atA	p.M809I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	809					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCTTGTCCGACATGCTCACAG	0.498																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2425-2427)atG>atA		complement component 3							67.0	66.0	66.0					19																	6702151		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702151C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2427G>A	19.37:g.6702151C>T	ENSP00000245907:p.Met809Ile						p.M809I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	19	2519	-			809					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2427G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840623	0.16891	.	.	ENSG00000125730	ENST00000245907	T	0.23348	1.91	5.79	4.76	0.60689	Alpha-2-macroglobulin (1);	0.276731	0.35179	N	0.003385	T	0.08935	0.0221	N	0.01152	-0.98	0.23751	N	0.996944	B	0.02656	0.0	B	0.14023	0.01	T	0.23940	-1.0174	10	0.27082	T	0.32	.	9.3021	0.37851	0.1447:0.7793:0.0:0.076	.	809	P01024	CO3_HUMAN	I	809	ENSP00000245907:M809I	ENSP00000245907:M809I	M	-	3	0	C3	6653151	0.999000	0.42202	0.996000	0.52242	0.108000	0.19459	0.618000	0.24373	1.458000	0.47871	-0.218000	0.12543	ATG		0.498	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		15	52	0	0	0	1	0	15	52				
CHST8	64377	broad.mit.edu	37	19	34180193	34180193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:34180193G>A	ENST00000262622.4	+	2	784	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	CHST8_ENST00000438847.3_Missense_Mutation_p.R9Q|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000434302.1_Missense_Mutation_p.R9Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	9					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.R9Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GGAACAATGCGGCTGGCCTGC	0.642																																						ENST00000262622.3																			1	Substitution - Missense(1)	p.R9Q(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(25-27)cGg>cAg		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							98.0	90.0	93.0					19																	34180193		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180193G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.26G>A	19.37:g.34180193G>A	ENSP00000262622:p.Arg9Gln					CHST8_ENST00000434302.1_Missense_Mutation_p.R9Q|CHST8_ENST00000438847.2_Missense_Mutation_p.R9Q|CHST8_ENST00000604556.1_Missense_Mutation_p.R9Q	p.R9Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			2	784	+	Esophageal squamous(110;0.162)		9					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.26G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196322	0.94960	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.80393	-1.37;-1.37;-1.37	5.39	5.39	0.77823	.	0.000000	0.41500	D	0.000865	T	0.81945	0.4930	L	0.27053	0.805	0.37588	D	0.920068	D	0.76494	0.999	P	0.61275	0.886	T	0.81200	-0.1041	10	0.25106	T	0.35	-23.9943	18.1353	0.89617	0.0:0.0:1.0:0.0	.	9	Q9H2A9	CHST8_HUMAN	Q	9	ENSP00000392604:R9Q;ENSP00000393879:R9Q;ENSP00000262622:R9Q	ENSP00000262622:R9Q	R	+	2	0	CHST8	38872033	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.967000	0.49216	2.507000	0.84556	0.591000	0.81541	CGG		0.642	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		19	103	0	0	0	1	0	19	103				
SAMSN1	64092	broad.mit.edu	37	21	15889300	15889300	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:15889300G>A	ENST00000400566.1	-	3	273	c.192C>T	c.(190-192)ggC>ggT	p.G64G	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Silent_p.G132G	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	64					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TACCCAAACCGCCTCCATTAT	0.338																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(394-396)ggC>ggT		SAM domain, SH3 domain and nuclear localization signals 1							129.0	111.0	116.0					21																	15889300		1792	4072	5864	SO:0001819	synonymous_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889300G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.192C>T	21.37:g.15889300G>A						SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G64G	p.G132G	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	4	570	-			64					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	c.396C>T	CCDS42906.1																																																																																				0.338	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			8	18	0	0	0	1	0	8	18				
SPTAN1	6709	broad.mit.edu	37	9	131343203	131343203	+	Silent	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:131343203G>T	ENST00000372731.4	+	11	1436	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SPTAN1_ENST00000358161.5_Silent_p.L442L|SPTAN1_ENST00000372739.3_Silent_p.L442L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	442					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCCCAAGCTGACCGTCCTTT	0.592																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(1324-1326)ctG>ctT		spectrin, alpha, non-erythrocytic 1							68.0	60.0	63.0					9																	131343203		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131343203G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1326G>T	9.37:g.131343203G>T						SPTAN1_ENST00000372731.4_Silent_p.L442L|SPTAN1_ENST00000358161.5_Silent_p.L442L	p.L442L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			11	1436	+			442					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.1326G>T	CCDS6905.1																																																																																				0.592	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		12	40	1	0	2.61681e-11	1	3.022e-11	12	40				
COL23A1	91522	broad.mit.edu	37	5	177715332	177715332	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:177715332C>T	ENST00000390654.3	-	5	791	c.434G>A	c.(433-435)gGc>gAc	p.G145D	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	145	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TACCGGGTAGCCATCTCGTCC	0.418																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(433-435)gGc>gAc		collagen, type XXIII, alpha 1							155.0	152.0	153.0					5																	177715332		1879	4114	5993	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177715332C>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.434G>A	5.37:g.177715332C>T	ENSP00000375069:p.Gly145Asp					COL23A1_ENST00000407622.1_Intron	p.G145D	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	5	791	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	145			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.434G>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961287	0.34565	.	.	ENSG00000050767	ENST00000390654	D	0.99353	-5.77	5.59	5.59	0.84812	.	0.260137	0.23237	N	0.050391	D	0.99629	0.9864	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97936	1.0323	10	0.87932	D	0	-1.1798	15.0845	0.72142	0.0:1.0:0.0:0.0	.	145	Q86Y22	CONA1_HUMAN	D	145	ENSP00000375069:G145D	ENSP00000375069:G145D	G	-	2	0	COL23A1	177647938	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.860000	0.55995	2.619000	0.88677	0.655000	0.94253	GGC		0.418	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		48	134	0	0	0	1	0	48	134				
GPRIN3	285513	broad.mit.edu	37	4	90170587	90170587	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:90170587T>C	ENST00000609438.1	-	2	1193	c.675A>G	c.(673-675)ggA>ggG	p.G225G	GPRIN3_ENST00000333209.4_Silent_p.G225G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	225										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CACAGATGGCTCCCTGCCTTT	0.542																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(673-675)ggA>ggG		GPRIN family member 3							52.0	54.0	54.0					4																	90170587		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90170587T>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.675A>G	4.37:g.90170587T>C							p.G225G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1193	-		Hepatocellular(203;0.114)	225					Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.675A>G	CCDS34030.1																																																																																				0.542	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		7	57	0	0	0	1	0	7	57				
ATXN3L	92552	broad.mit.edu	37	X	13337979	13337979	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:13337979T>C	ENST00000380622.2	-	1	539	c.75A>G	c.(73-75)ggA>ggG	p.G25G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	25	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TAAAATATTCTCCTTGCAATA	0.418																																						ENST00000380622.2																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(73-75)ggA>ggG		ataxin 3-like							103.0	86.0	91.0					X																	13337979		1568	3582	5150	SO:0001819	synonymous_variant	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337979T>C		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.75A>G	X.37:g.13337979T>C						GS1-600G8.3_ENST00000431486.1_RNA	p.G25G	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	539	-			25			Josephin.		B2RNY8	Silent	SNP	ENST00000380622.2	37	c.75A>G	CCDS48080.1																																																																																				0.418	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		11	85	0	0	0	1	0	11	85				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	52	0	0	0	1	0	3	52				
CSMD3	114788	broad.mit.edu	37	8	113237011	113237011	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr8:113237011T>G	ENST00000297405.5	-	71	11357	c.11113A>C	c.(11113-11115)Aca>Cca	p.T3705P	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3635P|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3536P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3665P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3705						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATACCATTGTGCAAACCGTG	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11113-11115)Aca>Cca		CUB and Sushi multiple domains 3							345.0	289.0	308.0					8																	113237011		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237011T>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11113A>C	8.37:g.113237011T>G	ENSP00000297405:p.Thr3705Pro	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.T3635P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3665P|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3536P	p.T3705P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11357	-			3705					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11113A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004509	0.74932	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.38722	1.47;1.46;1.55;1.12;1.52	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.73217	2.22	0.58432	D	0.999999	D;D;B	0.89917	1.0;0.999;0.006	D;D;B	0.85130	0.997;0.994;0.017	T	0.68492	-0.5394	10	0.87932	D	0	.	15.8958	0.79333	0.0:0.0:0.0:1.0	.	3536;3705;3665	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	3665;3705;2975;3536;3635	ENSP00000345799:T3665P;ENSP00000297405:T3705P;ENSP00000341558:T2975P;ENSP00000412263:T3536P;ENSP00000343124:T3635P	ENSP00000297405:T3705P	T	-	1	0	CSMD3	113306187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.578000	0.82498	2.209000	0.71365	0.482000	0.46254	ACA		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		63	88	0	0	0	1	0	63	88				
SEMA3E	9723	broad.mit.edu	37	7	83119453	83119453	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:83119453T>A	ENST00000307792.3	-	2	720	c.253A>T	c.(253-255)Aga>Tga	p.R85*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R25*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCACTGATTCTCTCCAAGCTG	0.403																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(253-255)Aga>Tga		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							82.0	76.0	78.0					7																	83119453		2203	4300	6503	SO:0001587	stop_gained	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119453T>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.253A>T	7.37:g.83119453T>A	ENSP00000303212:p.Arg85*					SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R25*	p.R85*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			2	720	-		Medulloblastoma(109;0.109)	85			Sema.		B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	c.253A>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124644	0.94429	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	.	.	.	5.92	2.96	0.34315	.	0.268679	0.36778	N	0.002410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.0221	0.71637	0.0:0.0:0.5487:0.4513	.	.	.	.	X	85;25;85;25	.	ENSP00000303212:R85X	R	-	1	2	SEMA3E	82957389	1.000000	0.71417	0.657000	0.29651	0.998000	0.95712	1.401000	0.34589	0.307000	0.22880	0.477000	0.44152	AGA		0.403	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		10	50	0	0	0	1	0	10	50				
CFHR2	3080	broad.mit.edu	37	1	196879474	196879474	+	Intron	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:196879474G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.R287K|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AATACGCGTAGACCATACTTT	0.343																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(859-861)aGa>aAa		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196879474G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-39111G>A	1.37:g.196879474G>A						CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR2_ENST00000367421.3_Intron	p.R287K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					6	997	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.860G>A		.	.	.	.	.	.	.	.	.	.	.	0.024	-1.392527	0.01185	.	.	ENSG00000134365	ENST00000367416;ENST00000367418	T;T	0.38722	1.3;1.12	2.42	-2.18	0.07037	.	.	.	.	.	T	0.36441	0.0967	L	0.31420	0.93	0.09310	N	1	B;P	0.49253	0.17;0.921	B;D	0.65573	0.068;0.936	T	0.31024	-0.9958	9	0.05833	T	0.94	.	2.7634	0.05313	0.2756:0.0:0.488:0.2363	.	287;288	C9J7J7;Q5DVJ7	.;.	K	287;41	ENSP00000356386:R287K;ENSP00000356388:R41K	ENSP00000356386:R287K	R	+	2	0	CFHR4	195146097	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.176000	0.16782	-0.463000	0.06973	0.195000	0.17529	AGA		0.343	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		7	52	0	0	0	1	0	7	52				
LGI1	9211	broad.mit.edu	37	10	95552569	95552569	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:95552569C>A	ENST00000371418.4	+	6	833	c.573C>A	c.(571-573)acC>acA	p.T191T	LGI1_ENST00000371413.3_Silent_p.T191T|LGI1_ENST00000542308.1_Silent_p.T143T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	191	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTGGCCACACCAATGCAACTG	0.438																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(571-573)acC>acA		leucine-rich, glioma inactivated 1							127.0	128.0	128.0					10																	95552569		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95552569C>A	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.573C>A	10.37:g.95552569C>A						LGI1_ENST00000542308.1_Silent_p.T143T|LGI1_ENST00000371413.3_Silent_p.T191T	p.T191T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			6	833	+		Colorectal(252;0.124)	191			LRRCT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.573C>A	CCDS7431.1																																																																																				0.438	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		29	133	1	0	3.73148e-12	1	4.33724e-12	29	133				
PDK4	5166	broad.mit.edu	37	7	95222162	95222162	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:95222162C>A	ENST00000005178.5	-	4	636	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	147	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTGGGTCAACTGTACAGGCA	0.388																																						ENST00000005178.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(439-441)Gtt>Ttt		pyruvate dehydrogenase kinase, isozyme 4							170.0	164.0	166.0					7																	95222162		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95222162C>A	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.439G>T	7.37:g.95222162C>A	ENSP00000005178:p.Val147Phe						p.V147F	NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		4	636	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		147			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.439G>T	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514792	0.27123	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.29397	1.57	5.54	4.65	0.58169	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.106120	0.64402	N	0.000005	T	0.27027	0.0662	L	0.49699	1.58	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	T	0.05582	-1.0876	10	0.27082	T	0.32	.	10.3525	0.43945	0.1362:0.7941:0.0:0.0697	.	147	Q16654	PDK4_HUMAN	F	147;111	ENSP00000005178:V147F	ENSP00000005178:V147F	V	-	1	0	PDK4	95060098	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	0.215000	0.17562	1.453000	0.47775	0.655000	0.94253	GTT		0.388	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		15	49	1	0	7.93312e-07	1	8.60623e-07	15	49				
OR6M1	390261	broad.mit.edu	37	11	123676227	123676227	+	Silent	SNP	C	C	A	rs188523790	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:123676227C>A	ENST00000309154.2	-	1	868	c.831G>T	c.(829-831)gtG>gtT	p.V277V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GAGGGGTCACCACTGTGATGA	0.473																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(829-831)gtG>gtT		olfactory receptor, family 6, subfamily M, member 1							126.0	120.0	122.0					11																	123676227		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676227C>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.831G>T	11.37:g.123676227C>A							p.V277V	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	868	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	277					B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.831G>T	CCDS31696.1																																																																																				0.473	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		21	90	1	0	3.85864e-22	1	4.66687e-22	21	90				
INPP4A	3631	broad.mit.edu	37	2	99179952	99179952	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:99179952C>A	ENST00000523221.1	+	17	1895	c.1895C>A	c.(1894-1896)cCg>cAg	p.P632Q	INPP4A_ENST00000545415.1_Missense_Mutation_p.P593Q|INPP4A_ENST00000074304.5_Missense_Mutation_p.P632Q|INPP4A_ENST00000409851.3_Missense_Mutation_p.P627Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593Q|INPP4A_ENST00000409016.4_Missense_Mutation_p.P593Q			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	632					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCCTTTACCCGCTGCTGACC	0.532																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1894-1896)cCg>cAg		inositol polyphosphate-4-phosphatase, type I, 107kDa							35.0	38.0	37.0					2																	99179952		2063	4207	6270	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99179952C>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1895C>A	2.37:g.99179952C>A	ENSP00000427722:p.Pro632Gln					INPP4A_ENST00000409851.3_Missense_Mutation_p.P627Q|INPP4A_ENST00000409016.3_Missense_Mutation_p.P593Q|INPP4A_ENST00000545415.1_Missense_Mutation_p.P593Q|INPP4A_ENST00000523221.1_Missense_Mutation_p.P632Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593Q	p.P632Q	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			19	2288	+			632					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1895C>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013026	0.93346	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.996;0.996	T	0.68648	-0.5353	10	0.46703	T	0.11	-28.5329	18.455	0.90717	0.0:1.0:0.0:0.0	.	593;593;632;627	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	Q	593;627;632;593;593;632	ENSP00000386704:P593Q;ENSP00000386777:P627Q;ENSP00000074304:P632Q;ENSP00000442149:P593Q;ENSP00000387294:P593Q;ENSP00000427722:P632Q	ENSP00000074304:P632Q	P	+	2	0	INPP4A	98546384	1.000000	0.71417	0.973000	0.42090	0.969000	0.65631	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	CCG		0.532	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		8	21	1	0	0.000157383	1	0.000165715	8	21				
NEXN	91624	broad.mit.edu	37	1	78408471	78408471	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:78408471C>T	ENST00000334785.7	+	13	2169	c.1985C>T	c.(1984-1986)tCt>tTt	p.S662F	NEXN_ENST00000480732.2_3'UTR|FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000330010.8_Missense_Mutation_p.S598F|NEXN_ENST00000457030.1_Missense_Mutation_p.S648F	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATAAAGGATCTGCAGCTAGT	0.313																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1792-1794)tCt>tTt		nexilin (F actin binding protein)							101.0	92.0	95.0					1																	78408471		1837	4080	5917	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78408471C>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1985C>T	1.37:g.78408471C>T	ENSP00000333938:p.Ser662Phe					NEXN_ENST00000334785.7_Missense_Mutation_p.S662F|NEXN_ENST00000457030.1_Missense_Mutation_p.S648F|NEXN_ENST00000480732.1_3'UTR	p.S598F	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	12	2090	+			662			Ig-like.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1793C>T	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426365	0.62733	.	.	ENSG00000162614	ENST00000457030;ENST00000330010;ENST00000334785	T;T;T	0.69040	-0.37;-0.37;-0.37	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.132901	0.34628	N	0.003819	T	0.68165	0.2971	L	0.45228	1.405	0.80722	D	1	P;P;P	0.45428	0.828;0.858;0.854	P;P;P	0.54965	0.653;0.765;0.765	T	0.65446	-0.6166	10	0.42905	T	0.14	-12.0858	20.1295	0.97995	0.0:1.0:0.0:0.0	.	648;662;598	Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;NEXN_HUMAN;.	F	648;598;662	ENSP00000388048:S648F;ENSP00000327363:S598F;ENSP00000333938:S662F	ENSP00000327363:S598F	S	+	2	0	NEXN	78181059	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	7.818000	0.86416	2.758000	0.94735	0.591000	0.81541	TCT		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		7	44	0	0	0	1	0	7	44				
MALAT1	378938	broad.mit.edu	37	11	65266460	65266460	+	lincRNA	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:65266460T>C	ENST00000534336.1	+	0	1228				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTGATCGAATTCCGGTGATGC	0.502																																						ENST00000534336.1																			0																				141.0	142.0	142.0					11																	65266460		874	1988	2862			378938							g.chr11:65266460T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266460T>C								NR_002819.2						0	1228	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.502	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		29	115	0	0	0	1	0	29	115				
CAMSAP3	57662	broad.mit.edu	37	19	7677137	7677137	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7677137C>A	ENST00000160298.4	+	11	1859	c.1758C>A	c.(1756-1758)ccC>ccA	p.P586P	CAMSAP3_ENST00000446248.2_Silent_p.P613P	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	586					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGGGGTCCCCCACGTCCACTC	0.652																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1837-1839)ccC>ccA		calmodulin regulated spectrin-associated protein family, member 3							6.0	7.0	7.0					19																	7677137		1843	4033	5876	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677137C>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1758C>A	19.37:g.7677137C>A						CAMSAP3_ENST00000160298.4_Silent_p.P586P	p.P613P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	1940	+			586					Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.1839C>A	CCDS42489.1																																																																																				0.652	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		3	11	1	0	6.4e-05	1	6.7787e-05	3	11				
IGFBP6	3489	broad.mit.edu	37	12	53495921	53495921	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:53495921C>T	ENST00000301464.3	+	4	966	c.693C>T	c.(691-693)agC>agT	p.S231S	SOAT2_ENST00000301466.3_5'Flank|IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000548547.1_Silent_p.S229S	NM_002178.2	NP_002169.1	P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	231	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCAATGGAAGCTCCTCCTGCC	0.622																																					Esophageal Squamous(83;1656 1718 30141 34380)	ENST00000548547.1																			0				large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						c.(685-687)agC>agT		insulin-like growth factor binding protein 6							43.0	42.0	42.0					12																	53495921		2203	4300	6503	SO:0001819	synonymous_variant	3489				negative regulation of cell proliferation|regulation of cell growth|signal transduction			g.chr12:53495921C>T		CCDS8846.1	12q13	2008-07-28				ENSG00000167779			5475	protein-coding gene	gene with protein product		146735				1850258, 10087296	Standard	NM_002178		Approved		uc001sbu.1	P24592	OTTHUMG00000169773	ENST00000301464.3:c.693C>T	12.37:g.53495921C>T						IGFBP6_ENST00000301464.3_Silent_p.S231S|IGFBP6_ENST00000549628.1_3'UTR	p.S229S			P24592	IBP6_HUMAN			4	969	+			231			Thyroglobulin type-1.		Q14492	Silent	SNP	ENST00000301464.3	37	c.687C>T	CCDS8846.1																																																																																				0.622	IGFBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405813.1			15	38	0	0	0	1	0	15	38				
DYNC1H1	1778	broad.mit.edu	37	14	102470995	102470995	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:102470995G>C	ENST00000360184.4	+	24	5188	c.5024G>C	c.(5023-5025)gGt>gCt	p.G1675A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1675	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTGTTTTGGGTATTTCATCT	0.353																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5023-5025)gGt>gCt		dynein, cytoplasmic 1, heavy chain 1							116.0	108.0	110.0					14																	102470995		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102470995G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5024G>C	14.37:g.102470995G>C	ENSP00000348965:p.Gly1675Ala						p.G1675A	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			24	5188	+			1675			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5024G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142953	0.77888	.	.	ENSG00000197102	ENST00000360184	T	0.61158	0.13	5.53	5.53	0.82687	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	L	0.31476	0.935	0.80722	D	1	P	0.49635	0.926	P	0.50352	0.638	T	0.51220	-0.8733	10	0.27785	T	0.31	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	1675	Q14204	DYHC1_HUMAN	A	1675	ENSP00000348965:G1675A	ENSP00000348965:G1675A	G	+	2	0	DYNC1H1	101540748	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.746000	0.98859	2.763000	0.94921	0.563000	0.77884	GGT		0.353	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	38	0	0	0	1	0	6	38				
NACA	4666	broad.mit.edu	37	12	57113701	57113701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:57113701G>A	ENST00000454682.1	-	3	1894	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	NACA_ENST00000550952.1_Missense_Mutation_p.S538F|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	538	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTCAAGAGAGGCAGGTAC	0.493			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1612-1614)tCt>tTt		nascent polypeptide-associated complex alpha subunit							69.0	75.0	73.0					12																	57113701		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113701G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1613C>T	12.37:g.57113701G>A	ENSP00000403817:p.Ser538Phe					NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S538F|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron	p.S538F	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	1894	-			12						Missense_Mutation	SNP	ENST00000454682.1	37	c.1613C>T		.	.	.	.	.	.	.	.	.	.	G	12.88	2.071454	0.36566	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.52057	0.69;0.68	2.35	2.35	0.29111	.	.	.	.	.	T	0.32255	0.0823	N	0.08118	0	0.09310	N	1	D;D	0.58268	0.969;0.982	B;P	0.47786	0.354;0.557	T	0.11446	-1.0587	9	0.87932	D	0	.	8.4252	0.32725	0.0:0.0:1.0:0.0	.	538;538	E9PAV3;F8VU71	.;.	F	538	ENSP00000403817:S538F;ENSP00000448035:S538F	ENSP00000403817:S538F	S	-	2	0	NACA	55399968	0.023000	0.18921	0.236000	0.24074	0.386000	0.30323	2.239000	0.43079	1.051000	0.40369	0.449000	0.29647	TCT		0.493	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		14	48	0	0	0	1	0	14	48				
DAGLA	747	broad.mit.edu	37	11	61504723	61504723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:61504723C>T	ENST00000257215.5	+	14	1557	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	481					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGCTGCCATCCTCTCCTTCCT	0.647																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1441-1443)Ctc>Ttc		diacylglycerol lipase, alpha							152.0	161.0	158.0					11																	61504723		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61504723C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1441C>T	11.37:g.61504723C>T	ENSP00000257215:p.Leu481Phe						p.L481F	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	14	1557	+			481					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1441C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816906	0.70912	.	.	ENSG00000134780	ENST00000257215	T	0.52983	0.64	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000002	T	0.65123	0.2661	M	0.75615	2.305	0.54753	D	0.999988	D	0.76494	0.999	D	0.83275	0.996	T	0.67956	-0.5536	10	0.62326	D	0.03	-30.9507	10.0575	0.42255	0.0:0.9049:0.0:0.0951	.	481	Q9Y4D2	DGLA_HUMAN	F	481	ENSP00000257215:L481F	ENSP00000257215:L481F	L	+	1	0	DAGLA	61261299	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.637000	0.61346	1.898000	0.54952	0.306000	0.20318	CTC		0.647	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		60	283	0	0	0	1	0	60	283				
KDM5C	8242	broad.mit.edu	37	X	53224437	53224437	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:53224437T>C	ENST00000375401.3	-	21	3808	c.3276A>G	c.(3274-3276)aaA>aaG	p.K1092K	KDM5C_ENST00000375383.3_Silent_p.K1051K|KDM5C_ENST00000404049.3_Silent_p.K1091K|KDM5C_ENST00000375379.3_Silent_p.K1092K|KDM5C_ENST00000452825.3_Silent_p.K1025K	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1092					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGCAAGAATTTTTCTTGAGGA	0.562			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(3073-3075)aaA>aaG		lysine (K)-specific demethylase 5C							75.0	57.0	63.0					X																	53224437		2202	4299	6501	SO:0001819	synonymous_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53224437T>C	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3276A>G	X.37:g.53224437T>C						KDM5C_ENST00000404049.3_Silent_p.K1091K|KDM5C_ENST00000375379.3_Silent_p.K1092K|KDM5C_ENST00000375383.3_Silent_p.K1051K|KDM5C_ENST00000375401.3_Silent_p.K1092K	p.K1025K	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			19	3607	-			1092					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	ENST00000375401.3	37	c.3075A>G	CCDS14351.1																																																																																				0.562	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		4	10	0	0	0	1	0	4	10				
EEF1DP3	196549	broad.mit.edu	37	13	32527154	32527154	+	RNA	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:32527154A>G	ENST00000428783.1	+	0	854							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GGCAGCGACAATGAGGCAACA	0.597																																						ENST00000428783.1																			0																				21.0	20.0	20.0					13																	32527154		692	1591	2283			196549							g.chr13:32527154A>G			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527154A>G														0	854	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.597	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		13	56	0	0	0	1	0	13	56				
USP53	54532	broad.mit.edu	37	4	120193152	120193152	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:120193152A>G	ENST00000274030.6	+	16	3316	c.2137A>G	c.(2137-2139)Atg>Gtg	p.M713V	USP53_ENST00000450251.1_Missense_Mutation_p.M713V	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGTACAGTAATGGATATCAG	0.363																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2137-2139)Atg>Gtg		ubiquitin specific peptidase 53							124.0	116.0	119.0					4																	120193152		1924	4147	6071	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120193152A>G	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2137A>G	4.37:g.120193152A>G	ENSP00000274030:p.Met713Val					USP53_ENST00000274030.6_Missense_Mutation_p.M713V	p.M713V			Q70EK8	UBP53_HUMAN			12	2681	+			713						Missense_Mutation	SNP	ENST00000274030.6	37	c.2137A>G	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	3.730	-0.055810	0.07362	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.41400	1.0;1.0	4.91	-5.63	0.02474	.	1.550450	0.03537	N	0.223393	T	0.23014	0.0556	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14559	-1.0468	10	0.54805	T	0.06	1.0247	3.0725	0.06235	0.2805:0.1447:0.4339:0.1408	.	713	Q70EK8	UBP53_HUMAN	V	713	ENSP00000274030:M713V;ENSP00000409906:M713V	ENSP00000274030:M713V	M	+	1	0	USP53	120412600	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	-0.930000	0.03972	-1.316000	0.02295	-0.376000	0.06991	ATG		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		25	101	0	0	0	1	0	25	101				
SEMA6D	80031	broad.mit.edu	37	15	48062700	48062700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:48062700G>A	ENST00000316364.5	+	19	2379	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	SEMA6D_ENST00000354744.4_Missense_Mutation_p.R591Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R585Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D584N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R647Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R572Q|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R628Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D584N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R604Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R585Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	647					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGGTGTACGATGGGAAGTC	0.423																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1939-1941)cGa>cAa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							143.0	136.0	138.0					15																	48062700		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48062700G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1940G>A	15.37:g.48062700G>A	ENSP00000324857:p.Arg647Gln					SEMA6D_ENST00000537942.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D584N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R604Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R628Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R585Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R647Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R572Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R591Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D584N	p.R647Q	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2379	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	647					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1940G>A	CCDS32225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.874458|2.874458	0.51695|0.51695	.|.	.|.	ENSG00000137872|ENSG00000137872	ENST00000355997|ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T|T;T;T;T;T;T;T;T	0.17528|0.65916	2.27|-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.67|5.67	4.75|4.75	0.60458|0.60458	.|.	.|0.508381	.|0.19899	.|N	.|0.103560	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.43923|0.43923	1.385|1.385	0.31252|0.31252	N|N	0.69391|0.69391	B|P;P;P;P	0.06786|0.48834	0.001|0.916;0.916;0.891;0.843	B|P;P;B;P	0.01281|0.49637	0.0|0.49;0.617;0.233;0.46	T|T	0.59941|0.59941	-0.7359|-0.7359	9|10	0.72032|0.13108	D|T	0.01|0.6	.|.	14.3525|14.3525	0.66713|0.66713	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	584|572;591;647;585	A6NM95|Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.|.;.;SEM6D_HUMAN;.	N|Q	584|585;647;647;628;604;591;585;572	ENSP00000348276:D584N|ENSP00000442040:R585Q;ENSP00000446152:R647Q;ENSP00000324857:R647Q;ENSP00000374084:R628Q;ENSP00000374083:R604Q;ENSP00000346786:R591Q;ENSP00000350770:R585Q;ENSP00000374079:R572Q	ENSP00000348276:D584N|ENSP00000324857:R647Q	D|R	+|+	1|2	0|0	SEMA6D|SEMA6D	45849992|45849992	1.000000|1.000000	0.71417|0.71417	0.594000|0.594000	0.28785|0.28785	0.974000|0.974000	0.67602|0.67602	5.105000|5.105000	0.64591|0.64591	1.393000|1.393000	0.46605|0.46605	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		11	84	0	0	0	1	0	11	84				
ARHGEF4	50649	broad.mit.edu	37	2	131688556	131688556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:131688556A>T	ENST00000326016.5	+	3	545	c.26A>T	c.(25-27)gAg>gTg	p.E9V	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E9V|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.E9V|SCARNA4_ENST00000517020.2_RNA|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.E865V	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	9					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCAGCAGGTGAGAAGCCCAGT	0.572																																						ENST00000409359.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(2593-2595)gAg>gTg		Rho guanine nucleotide exchange factor (GEF) 4							69.0	63.0	65.0					2																	131688556		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131688556A>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.26A>T	2.37:g.131688556A>T	ENSP00000316845:p.Glu9Val					ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E9V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E9V|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.E9V	p.E865V			Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	3	3792	+		Prostate(154;0.055)	9					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.2594A>T	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.967466	0.34754	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.74737	0.63;-0.59;-0.72;0.67;0.63;-0.72;-0.87	4.72	3.56	0.40772	.	.	.	.	.	T	0.65873	0.2733	N	0.24115	0.695	0.09310	N	1	B;D;B;B	0.53745	0.089;0.962;0.144;0.089	B;P;B;B	0.49276	0.021;0.605;0.147;0.021	T	0.56529	-0.7964	9	0.87932	D	0	.	6.9297	0.24434	0.8932:0.0:0.1068:0.0	.	9;865;9;9	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	V	865;9;9;189;9;9;9	ENSP00000386794:E865V;ENSP00000316845:E9V;ENSP00000376680:E9V;ENSP00000389661:E189V;ENSP00000398455:E9V;ENSP00000432267:E9V;ENSP00000387285:E9V	ENSP00000316845:E9V	E	+	2	0	ARHGEF4	131405026	0.008000	0.16893	0.002000	0.10522	0.086000	0.17979	0.298000	0.19120	0.660000	0.30964	0.383000	0.25322	GAG		0.572	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			13	60	0	0	0	1	0	13	60				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	284802							g.chr20:29625891C>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.135C>G	20.37:g.29625891C>G						FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G	p.G45G							5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	67	0	0	0	1	0	5	67				
CAMSAP2	23271	broad.mit.edu	37	1	200817705	200817705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:200817705C>G	ENST00000236925.4	+	12	1890	c.1841C>G	c.(1840-1842)aCt>aGt	p.T614S	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T603S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T587S			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	614					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AGTCCCATAACTGACAATACT	0.353																																						ENST00000358823.2																			0											c.(1807-1809)aCt>aGt		calmodulin regulated spectrin-associated protein family, member 2							87.0	83.0	84.0					1																	200817705		2203	4299	6502	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200817705C>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1841C>G	1.37:g.200817705C>G	ENSP00000236925:p.Thr614Ser					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T614S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T587S	p.T603S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2078	+			614					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.1808C>G		.	.	.	.	.	.	.	.	.	.	C	15.49	2.849450	0.51270	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.40476	1.03;1.03;1.03	5.72	5.72	0.89469	.	0.047511	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.80722	D	1	P;P;P	0.36144	0.48;0.539;0.48	B;B;B	0.37833	0.242;0.135;0.259	T	0.18147	-1.0346	10	0.05351	T	0.99	-28.1193	19.8968	0.96969	0.0:1.0:0.0:0.0	.	587;614;603	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	S	603;587;614	ENSP00000351684:T603S;ENSP00000416800:T587S;ENSP00000236925:T614S	ENSP00000236925:T614S	T	+	2	0	CAMSAP1L1	199084328	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	7.085000	0.76875	2.691000	0.91804	0.655000	0.94253	ACT		0.353	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		18	46	0	0	0	1	0	18	46				
MGEA5	10724	broad.mit.edu	37	10	103558659	103558659	+	Missense_Mutation	SNP	T	T	G	rs369547430		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:103558659T>G	ENST00000361464.3	-	9	2144	c.1749A>C	c.(1747-1749)caA>caC	p.Q583H	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000370094.3_Missense_Mutation_p.Q583H|MGEA5_ENST00000357797.5_Missense_Mutation_p.Q530H|MGEA5_ENST00000439817.1_Missense_Mutation_p.Q530H	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	583					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCGAAGCCATTGAAATTCCC	0.453																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1747-1749)caA>caC		meningioma expressed antigen 5 (hyaluronidase)							144.0	139.0	140.0					10																	103558659		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103558659T>G	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1749A>C	10.37:g.103558659T>G	ENSP00000354850:p.Gln583His					MGEA5_ENST00000439817.1_Missense_Mutation_p.Q530H|MGEA5_ENST00000370094.3_Missense_Mutation_p.Q583H|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.Q530H	p.Q583H	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	2144	-		Colorectal(252;0.207)	583			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.1749A>C	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	4.079	0.012478	0.07912	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.28666	1.62;1.62;1.61;1.6	5.86	4.03	0.46877	.	0.163436	0.56097	D	0.000032	T	0.15869	0.0382	N	0.11201	0.11	0.80722	D	1	B;B;B;B;B	0.12630	0.003;0.002;0.006;0.004;0.004	B;B;B;B;B	0.11329	0.002;0.004;0.006;0.004;0.002	T	0.05599	-1.0875	10	0.11794	T	0.64	-10.2211	12.7533	0.57320	0.0:0.8678:0.0:0.1322	.	530;146;530;583;583	E9PGF9;B3KMK2;O60502-2;O60502-3;O60502	.;.;.;.;NCOAT_HUMAN	H	530;583;530;583	ENSP00000409973:Q530H;ENSP00000354850:Q583H;ENSP00000350445:Q530H;ENSP00000359112:Q583H	ENSP00000350445:Q530H	Q	-	3	2	MGEA5	103548649	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	2.965000	0.49200	0.830000	0.34757	-0.766000	0.03442	CAA		0.453	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		8	69	0	0	0	1	0	8	69				
ALCAM	214	broad.mit.edu	37	3	105260482	105260482	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:105260482G>T	ENST00000306107.5	+	8	1364	c.864G>T	c.(862-864)caG>caT	p.Q288H	ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.Q288H|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.Q237H	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	288	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAAGGGACAGCCCGAAGGAA	0.393																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(862-864)caG>caT		activated leukocyte cell adhesion molecule							119.0	99.0	106.0					3																	105260482		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260482G>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.864G>T	3.37:g.105260482G>T	ENSP00000305988:p.Gln288His					ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.Q237H|ALCAM_ENST00000472644.2_Missense_Mutation_p.Q288H	p.Q288H	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1364	+			288			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.864G>T	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345728	0.41498	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.12039	2.72;2.72;2.72	6.17	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270973	0.43260	N	0.000592	T	0.15176	0.0366	M	0.70595	2.14	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.15052	0.007;0.012	T	0.03993	-1.0986	10	0.42905	T	0.14	-3.9009	6.3492	0.21367	0.251:0.1327:0.6164:0.0	.	288;288	B4DTU0;Q13740	.;CD166_HUMAN	H	288;288;237	ENSP00000305988:Q288H;ENSP00000419236:Q288H;ENSP00000418213:Q237H	ENSP00000305988:Q288H	Q	+	3	2	ALCAM	106743172	0.958000	0.32768	0.866000	0.34008	0.988000	0.76386	1.498000	0.35660	0.489000	0.27749	0.655000	0.94253	CAG		0.393	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		8	33	1	0	0.00448238	1	0.00461119	8	33				
CT45A5	441521	broad.mit.edu	37	X	134947936	134947936	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:134947936A>T	ENST00000463085.2	-	3	478	c.389T>A	c.(388-390)gTa>gAa	p.V130E	CT45A5_ENST00000491480.1_Missense_Mutation_p.V130E|CT45A5_ENST00000370724.3_Missense_Mutation_p.V130E|CT45A4_ENST00000420087.2_Intron			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	130										endometrium(1)|large_intestine(2)|lung(6)	9						TTCCTTCACTACTTGACATTT	0.383																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(388-390)gTa>gAa		cancer/testis antigen family 45, member A5							208.0	174.0	186.0					X																	134947936		2188	4267	6455	SO:0001583	missense	441521							g.chrX:134947936A>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.389T>A	X.37:g.134947936A>T	ENSP00000424778:p.Val130Glu					CT45A5_ENST00000491480.1_Missense_Mutation_p.V130E|CT45A4_ENST00000420087.2_Intron	p.V130E	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	633	-			130					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.389T>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	A	9.891	1.204255	0.22205	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.54866	0.55;0.55	2.4	2.4	0.29515	.	0.228496	0.35262	U	0.003337	T	0.39963	0.1098	L	0.38175	1.15	0.09310	N	1	B	0.19445	0.036	B	0.27380	0.079	T	0.39272	-0.9622	10	0.87932	D	0	-27.7381	6.0505	0.19783	1.0:0.0:0.0:0.0	.	130	Q6NSH3	CT455_HUMAN	E	130	ENSP00000359759:V130E;ENSP00000425997:V130E	ENSP00000359759:V130E	V	-	2	0	CT45A5	134775602	0.060000	0.20803	0.001000	0.08648	0.001000	0.01503	4.091000	0.57700	0.974000	0.38366	0.299000	0.19835	GTA		0.383	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		28	111	0	0	0	1	0	28	111				
MYL4	4635	broad.mit.edu	37	17	45299149	45299149	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:45299149C>G	ENST00000354968.1	+	5	543	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Missense_Mutation_p.L139V|MYL4_ENST00000393450.1_Missense_Mutation_p.L139V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	139	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CGTGGAGGGCCTGCGTGTCTT	0.567																																						ENST00000354968.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						c.(415-417)Ctg>Gtg		myosin, light chain 4, alkali; atrial, embryonic							137.0	109.0	119.0					17																	45299149		2203	4300	6503	SO:0001583	missense	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299149C>G		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.415C>G	17.37:g.45299149C>G	ENSP00000347055:p.Leu139Val					MYL4_ENST00000572316.1_Missense_Mutation_p.L139V|MYL4_ENST00000393450.1_Missense_Mutation_p.L139V	p.L139V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN			5	543	+			139			EF-hand 2.		D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	37	c.415C>G	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212216	0.79240	.	.	ENSG00000198336	ENST00000354968;ENST00000393450	D;D	0.88664	-2.41;-2.41	5.23	4.26	0.50523	EF-hand-like domain (1);	0.000000	0.64402	D	0.000006	D	0.94837	0.8332	M	0.90309	3.105	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.95283	0.8388	10	0.87932	D	0	-15.8514	12.1032	0.53796	0.0:0.915:0.0:0.085	.	139	P12829	MYL4_HUMAN	V	139	ENSP00000347055:L139V;ENSP00000377096:L139V	ENSP00000347055:L139V	L	+	1	2	MYL4	42654148	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.968000	0.56809	1.319000	0.45190	0.555000	0.69702	CTG		0.567	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		23	71	0	0	0	1	0	23	71				
TDRD1	56165	broad.mit.edu	37	10	115978244	115978244	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:115978244G>T	ENST00000369280.1	+	18	2855	c.2395G>T	c.(2395-2397)Gat>Tat	p.D799Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D403Y|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000251864.2_Missense_Mutation_p.D799Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D799Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	799	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTTTGTGGATTATGGAAA	0.393																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(2395-2397)Gat>Tat		tudor domain containing 1							203.0	185.0	191.0					10																	115978244		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115978244G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2395G>T	10.37:g.115978244G>T	ENSP00000358286:p.Asp799Tyr					TDRD1_ENST00000369280.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D403Y	p.D799Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	18	2548	+		Colorectal(252;0.172)|Breast(234;0.188)	799			Tudor 3.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2395G>T		.	.	.	.	.	.	.	.	.	.	G	24.2	4.510580	0.85389	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000422662;ENST00000369280	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.93	5.93	0.95920	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95753	0.8793	10	0.87932	D	0	-30.7065	18.5214	0.90954	0.0:0.0:1.0:0.0	.	403;799;799	Q9BXT4-4;Q9BXT4;Q9BXT4-3	.;TDRD1_HUMAN;.	Y	799;799;403;799	ENSP00000358288:D799Y;ENSP00000251864:D799Y;ENSP00000402794:D403Y;ENSP00000358286:D799Y	ENSP00000251864:D799Y	D	+	1	0	TDRD1	115968234	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.756000	0.91651	2.814000	0.96858	0.655000	0.94253	GAT		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			22	76	1	0	1.2644e-06	1	1.36342e-06	22	76				
GRIN2B	2904	broad.mit.edu	37	12	13828685	13828685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:13828685C>T	ENST00000609686.1	-	4	1328	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	373					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTACCCTTTCCCACTTCCTCT	0.413																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1117-1119)tgG>tgA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						126.0	118.0	121.0					12																	13828685		2203	4300	6503	SO:0001587	stop_gained	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13828685C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1119G>A	12.37:g.13828685C>T	ENSP00000477455:p.Trp373*						p.W373*	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			4	1328	-			373					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Nonsense_Mutation	SNP	ENST00000609686.1	37	c.1119G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630014	0.98399	.	.	ENSG00000150086	ENST00000279593	.	.	.	5.69	5.69	0.88448	.	0.118020	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	ENSP00000279593:W373X	W	-	3	0	GRIN2B	13719952	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.652000	0.67959	2.840000	0.97914	0.655000	0.94253	TGG		0.413	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	55	0	0	0	1	0	10	55				
FLNA	2316	broad.mit.edu	37	X	153583376	153583376	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:153583376C>A	ENST00000369850.3	-	31	5270	c.5034G>T	c.(5032-5034)gcG>gcT	p.A1678A	FLNA_ENST00000422373.1_Silent_p.A1670A|FLNA_ENST00000360319.4_Silent_p.A1670A|FLNA_ENST00000344736.4_Silent_p.A1670A|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1678					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTGCCTGCCGCCTTAGTGT	0.612											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(5008-5010)gcG>gcT		filamin A, alpha							64.0	64.0	64.0					X																	153583376		2159	4233	6392	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153583376C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5034G>T	X.37:g.153583376C>A			OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000360319.4_Silent_p.A1670A|FLNA_ENST00000369850.3_Silent_p.A1678A|FLNA_ENST00000344736.4_Silent_p.A1670A|FLNA_ENST00000369856.3_5'UTR	p.A1670A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			30	5258	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1678					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5010G>T	CCDS48194.1																																																																																				0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			16	101	1	0	3.41278e-10	1	3.91595e-10	16	101				
EMD	2010	broad.mit.edu	37	X	153609536	153609536	+	Silent	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:153609536T>G	ENST00000369842.4	+	6	1032	c.744T>G	c.(742-744)gcT>gcG	p.A248A	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.A213A	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	248					cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATGCAGGCTGAAGAAGGCA	0.592																																						ENST00000369842.4																			0				lung(5)	5						c.(742-744)gcT>gcG		emerin							39.0	36.0	37.0					X																	153609536		2198	4297	6495	SO:0001819	synonymous_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153609536T>G	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.744T>G	X.37:g.153609536T>G						EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.A213A	p.A248A	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN			6	1032	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		248					Q6FI02	Silent	SNP	ENST00000369842.4	37	c.744T>G	CCDS14745.1																																																																																				0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			9	58	0	0	0	1	0	9	58				
NT5C1B	93034	broad.mit.edu	37	2	18765864	18765864	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:18765864C>G	ENST00000359846.2	-	5	896	c.819G>C	c.(817-819)gaG>gaC	p.E273D	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E273D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E273D|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E213D|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	273					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGTCCTCGTCCTCCCGCTGCT	0.677																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(637-639)gaG>gaC		5'-nucleotidase, cytosolic IB							17.0	19.0	18.0					2																	18765864		2201	4298	6499	SO:0001583	missense	93034							g.chr2:18765864C>G	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.819G>C	2.37:g.18765864C>G	ENSP00000352904:p.Glu273Asp					NT5C1B_ENST00000600945.1_Missense_Mutation_p.E273D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E273D|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E273D	p.E213D	NM_033253.3	NP_150278.2					4	739	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.639G>C	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755248	0.31046	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89681	-2.55	4.09	-5.01	0.02991	.	2.086090	0.02048	N	0.049851	T	0.78935	0.4362	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.29037	0.231;0.231;0.204;0.231;0.0;0.118;0.192;0.121;0.192	B;B;B;B;B;B;B;B;B	0.27076	0.048;0.048;0.032;0.048;0.001;0.05;0.07;0.035;0.076	T	0.67891	-0.5553	10	0.48119	T	0.1	-13.9249	5.2858	0.15700	0.0:0.3377:0.2528:0.4094	.	256;290;213;256;215;65;213;273;273	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	D	273;215;213;273	ENSP00000412639:E215D	ENSP00000305979:E213D	E	-	3	2	NT5C1B-RDH14;NT5C1B	18629345	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.314000	0.02715	-1.288000	0.02378	-0.379000	0.06801	GAG		0.677	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			6	12	0	0	0	1	0	6	12				
REC8	9985	broad.mit.edu	37	14	24641964	24641964	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:24641964C>T	ENST00000311457.3	+	3	698	c.99C>T	c.(97-99)taC>taT	p.Y33Y	REC8_ENST00000559919.1_Silent_p.Y33Y			O95072	REC8_HUMAN	REC8 meiotic recombination protein	33					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCGAATACCTGAGGGTGA	0.637																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(97-99)taC>taT		REC8 meiotic recombination protein							44.0	52.0	50.0					14																	24641964		1931	4122	6053	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24641964C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.99C>T	14.37:g.24641964C>T						REC8_ENST00000559919.1_Silent_p.Y33Y	p.Y33Y			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	3	698	+			33					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.99C>T	CCDS41932.1																																																																																				0.637	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		14	57	0	0	0	1	0	14	57				
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAACCAGACCTCAGGCGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS071266	TP53	S		c.e6+1	Other conserved DNA damage response genes	tumor protein p53							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578176C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	6	22	1	0	0.0293803	1	0.0297123	6	22				
KRT86	3892	broad.mit.edu	37	12	52699156	52699156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:52699156C>T	ENST00000423955.2	+	7	1046	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000544024.1_Missense_Mutation_p.R290W|KRT86_ENST00000293525.5_Missense_Mutation_p.R290W			O43790	KRT86_HUMAN	keratin 86	290	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCCGTAGCCGGGCTGAGGC	0.547																																						ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(868-870)Cgg>Tgg		keratin 86							114.0	100.0	105.0					12																	52699156		2203	4300	6503	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699156C>T	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.868C>T	12.37:g.52699156C>T	ENSP00000444533:p.Arg290Trp					KRT86_ENST00000544024.1_Missense_Mutation_p.R290W|KRT86_ENST00000423955.2_Missense_Mutation_p.R290W	p.R290W	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	920	+			290			Coil 2.|Rod.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.868C>T	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018626	0.35606	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	D;D;D	0.90197	-2.63;-2.63;-2.63	4.51	3.59	0.41128	Filament (1);	0.000000	0.37623	U	0.002016	D	0.88123	0.6352	M	0.62016	1.91	0.36672	D	0.87853	B	0.32717	0.381	B	0.36186	0.219	D	0.87521	0.2446	10	0.66056	D	0.02	.	7.6245	0.28204	0.1622:0.7508:0.0:0.087	.	290	O43790	KRT86_HUMAN	W	290	ENSP00000443169:R290W;ENSP00000444533:R290W;ENSP00000293525:R290W	ENSP00000293525:R290W	R	+	1	2	AC021066.1;KRT86	50985423	1.000000	0.71417	0.988000	0.46212	0.529000	0.34654	1.961000	0.40432	0.868000	0.35678	0.499000	0.49734	CGG		0.547	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		13	56	0	0	0	1	0	13	56				
ABCA6	23460	broad.mit.edu	37	17	67081772	67081772	+	Silent	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:67081772A>T	ENST00000284425.2	-	31	4197	c.4023T>A	c.(4021-4023)gcT>gcA	p.A1341A	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1341	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTACCTCTCCAGCAGTTGGCT	0.348																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4021-4023)gcT>gcA		ATP-binding cassette, sub-family A (ABC1), member 6							92.0	82.0	85.0					17																	67081772		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081772A>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4023T>A	17.37:g.67081772A>T						ABCA6_ENST00000446604.2_5'UTR	p.A1341A	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			31	4197	-	Breast(10;5.65e-12)		1341			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4023T>A	CCDS11683.1																																																																																				0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		8	34	0	0	0	1	0	8	34				
TMEM35	59353	broad.mit.edu	37	X	100349725	100349725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:100349725T>C	ENST00000372930.4	+	2	567	c.284T>C	c.(283-285)cTg>cCg	p.L95P	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	95						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTCTTCCTACTGTTGCTGGTG	0.552																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(283-285)cTg>cCg		transmembrane protein 35							281.0	210.0	234.0					X																	100349725		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349725T>C	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.284T>C	X.37:g.100349725T>C	ENSP00000362021:p.Leu95Pro					TMEM35_ENST00000478351.1_3'UTR	p.L95P	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	567	+			95					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.284T>C	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890357	0.72524	.	.	ENSG00000126950	ENST00000372930	.	.	.	5.32	5.32	0.75619	.	0.125117	0.56097	D	0.000032	T	0.76990	0.4065	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.79836	-0.1635	9	0.87932	D	0	.	14.3283	0.66534	0.0:0.0:0.0:1.0	.	95	Q53FP2	TMM35_HUMAN	P	95	.	ENSP00000362021:L95P	L	+	2	0	TMEM35	100236381	1.000000	0.71417	0.780000	0.31762	0.915000	0.54546	7.470000	0.80973	1.763000	0.52060	0.481000	0.45027	CTG		0.552	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		33	161	0	0	0	1	0	33	161				
CLYBL	171425	broad.mit.edu	37	13	100518604	100518604	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:100518604C>A	ENST00000376360.1	+	6	772	c.745C>A	c.(745-747)Cga>Aga	p.R249R	CLYBL_ENST00000376355.3_Silent_p.R215R|CLYBL_ENST00000444838.2_Silent_p.R215R|CLYBL_ENST00000376354.1_Silent_p.R215R|CLYBL_ENST00000339105.4_Silent_p.R249R			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	249						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTGACTTTCGAGATGGAGC	0.468																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(643-645)Cga>Aga		citrate lyase beta like							94.0	92.0	93.0					13																	100518604		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518604C>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.745C>A	13.37:g.100518604C>A						CLYBL_ENST00000444838.2_Silent_p.R215R|CLYBL_ENST00000376360.1_Silent_p.R249R|CLYBL_ENST00000376354.1_Silent_p.R215R|CLYBL_ENST00000339105.4_Silent_p.R249R	p.R215R	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN			5	674	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		249					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.643C>A	CCDS32002.1																																																																																				0.468	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			30	87	1	0	8.4185e-14	1	9.97955e-14	30	87				
FTHL17	53940	broad.mit.edu	37	X	31090069	31090069	+	Start_Codon_SNP	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:31090069A>T	ENST00000359202.3	-	1	101	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	1					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.M1T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCGGTGGCCATGGCGGGCAG	0.647																																						ENST00000359202.3																			2	Substitution - Missense(2)	p.M1T(2)	lung(2)	endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(1-3)aTg>aAg		ferritin, heavy polypeptide-like 17							30.0	26.0	27.0					X																	31090069		2180	4251	6431	SO:0001582	initiator_codon_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31090069A>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.2T>A	X.37:g.31090069A>T	ENSP00000368207:p.Met1Lys						p.M1K	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	101	-			1					Q6NT24|Q6NTE2	Translation_Start_Site	SNP	ENST00000359202.3	37	c.2T>A	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824135	0.50739	.	.	ENSG00000132446	ENST00000359202	T	0.63744	-0.06	3.42	3.42	0.39159	.	.	.	.	.	T	0.71108	0.3301	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.72516	-0.4269	8	0.87932	D	0	.	5.3495	0.16028	0.7437:0.0:0.0:0.2563	.	1	Q9BXU8	FHL17_HUMAN	K	1	ENSP00000368207:M1K	ENSP00000368207:M1K	M	-	2	0	FTHL17	30999990	0.311000	0.24536	0.009000	0.14445	0.105000	0.19272	0.327000	0.19663	1.584000	0.49913	0.437000	0.28790	ATG		0.647	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894	Missense_Mutation	13	42	0	0	0	1	0	13	42				
FAM65C	140876	broad.mit.edu	37	20	49204343	49204343	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:49204343C>A	ENST00000327979.2	-	21	3147	c.2736G>T	c.(2734-2736)tcG>tcT	p.S912S	FAM65C_ENST00000462842.1_5'UTR|MIR645_ENST00000385283.1_RNA|FAM65C_ENST00000535356.1_Silent_p.S916S|FAM65C_ENST00000045083.2_Silent_p.S912S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	912										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTTACCGAACGACAGTGTGG	0.612											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2734-2736)tcG>tcT		family with sequence similarity 65, member C							45.0	47.0	46.0					20																	49204343		1929	4131	6060	SO:0001819	synonymous_variant	140876							g.chr20:49204343C>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2736G>T	20.37:g.49204343C>A			OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	FAM65C_ENST00000535356.1_Silent_p.S916S|FAM65C_ENST00000462842.1_5'UTR|FAM65C_ENST00000045083.2_Silent_p.S912S	p.S912S			Q96MK2	FA65C_HUMAN			21	3147	-			912					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.2736G>T	CCDS13431.2																																																																																				0.612	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			10	63	1	0	2.27111e-07	1	2.49404e-07	10	63				
OR2T33	391195	broad.mit.edu	37	1	248436216	248436216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:248436216G>C	ENST00000318021.2	-	1	922	c.901C>G	c.(901-903)Cgg>Ggg	p.R301G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCAGCCACCGTTTCAGGGCT	0.443																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(901-903)Cgg>Ggg		olfactory receptor, family 2, subfamily T, member 33							168.0	167.0	167.0					1																	248436216		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436216G>C		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.901C>G	1.37:g.248436216G>C	ENSP00000324687:p.Arg301Gly						p.R301G	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	922	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		301					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.901C>G	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.968	0.179733	0.09443	.	.	ENSG00000177212	ENST00000318021	T	0.40476	1.03	1.6	0.357	0.16079	.	1.589820	0.05228	U	0.509856	T	0.37785	0.1016	L	0.39633	1.23	0.09310	N	1	P	0.42123	0.771	B	0.43052	0.406	T	0.34502	-0.9826	10	0.87932	D	0	.	5.5696	0.17190	0.0:0.0:0.2935:0.7065	.	301	Q8NG76	O2T33_HUMAN	G	301	ENSP00000324687:R301G	ENSP00000324687:R301G	R	-	1	2	OR2T33	246502839	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-0.827000	0.04424	0.077000	0.16863	0.175000	0.17021	CGG		0.443	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		39	160	0	0	0	1	0	39	160				
CCDC91	55297	broad.mit.edu	37	12	28702085	28702085	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:28702085G>A	ENST00000545336.1	+	16	1724	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	CCDC91_ENST00000381256.1_Silent_p.T399T|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Silent_p.T399T|CCDC91_ENST00000306172.5_Silent_p.T405T|CCDC91_ENST00000381259.1_Silent_p.T435T			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	435					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TAATAGCTACGGAACCAGTTG	0.383																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(1303-1305)acG>acA		coiled-coil domain containing 91							122.0	118.0	119.0					12																	28702085		2203	4300	6503	SO:0001819	synonymous_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28702085G>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.1305G>A	12.37:g.28702085G>A						CCDC91_ENST00000306172.5_Silent_p.T405T|CCDC91_ENST00000381259.1_Silent_p.T435T|CCDC91_ENST00000539107.1_Silent_p.T399T|CCDC91_ENST00000381256.1_Silent_p.T399T|CCDC91_ENST00000540401.1_3'UTR	p.T435T			Q7Z6B0	CCD91_HUMAN			16	1724	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		435					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	37	c.1305G>A	CCDS8716.1																																																																																				0.383	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		15	100	0	0	0	1	0	15	100				
XIST	7503	broad.mit.edu	37	X	73068802	73068802	+	lincRNA	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:73068802T>C	ENST00000429829.1	-	0	3786					NR_001564.2				X inactive specific transcript (non-protein coding)																		TATCCATTAATATTCCAAGGG	0.388																																						ENST00000429829.1																			0																				30.0	30.0	30.0					X																	73068802		876	1990	2866			7503							g.chrX:73068802T>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068802T>C								NR_001564.2						0	3786	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.388	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		8	30	0	0	0	1	0	8	30				
DCX	1641	broad.mit.edu	37	X	110653294	110653294	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:110653294C>A	ENST00000338081.3	-	2	747	c.576G>T	c.(574-576)agG>agT	p.R192S	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R111S|DCX_ENST00000356915.2_Missense_Mutation_p.R111S|DCX_ENST00000488120.1_Missense_Mutation_p.R111S|DCX_ENST00000356220.3_Missense_Mutation_p.R111S	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	192	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTCCGATCTTCCTGGATCCAT	0.502																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(574-576)agG>agT		doublecortin							190.0	155.0	167.0					X																	110653294		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653294C>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.576G>T	X.37:g.110653294C>A	ENSP00000337697:p.Arg192Ser					DCX_ENST00000488120.1_Missense_Mutation_p.R111S|DCX_ENST00000371993.2_Missense_Mutation_p.R111S|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R111S|DCX_ENST00000356220.3_Missense_Mutation_p.R111S	p.R192S	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	747	-			192			Doublecortin 1.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.576G>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701366|2.701366	0.48307|0.48307	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.92199	.|-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.5|5.5	-1.12|-1.12	0.09808|0.09808	.|Doublecortin domain (5);	.|0.224693	.|0.42964	.|D	.|0.000636	D|D	0.85366|0.85366	0.5680|0.5680	L|L	0.40543|0.40543	1.245|1.245	0.37333|0.37333	D|D	0.910045|0.910045	.|B;B	.|0.19200	.|0.034;0.034	.|B;B	.|0.23275	.|0.045;0.045	T|T	0.74156|0.74156	-0.3756|-0.3756	5|10	.|0.52906	.|T	.|0.07	.|.	7.328|7.328	0.26566|0.26566	0.0:0.4269:0.2805:0.2926|0.0:0.4269:0.2805:0.2926	.|.	.|180;192	.|B4DM53;O43602	.|.;DCX_HUMAN	V|S	184|111;111;192;111;111;111	.|ENSP00000349385:R111S;ENSP00000361061:R111S;ENSP00000337697:R192S;ENSP00000348553:R111S;ENSP00000419861:R111S;ENSP00000418811:R111S	.|ENSP00000337697:R192S	G|R	-|-	2|3	0|2	DCX|DCX	110539950|110539950	0.998000|0.998000	0.40836|0.40836	0.993000|0.993000	0.49108|0.49108	0.995000|0.995000	0.86356|0.86356	0.464000|0.464000	0.21988|0.21988	-0.242000|-0.242000	0.09667|0.09667	0.600000|0.600000	0.82982|0.82982	GGA|AGG		0.502	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		21	115	1	0	1.28384e-07	1	1.41856e-07	21	115				
SEL1L2	80343	broad.mit.edu	37	20	13839998	13839998	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:13839998T>C	ENST00000284951.5	-	18	1802	c.1728A>G	c.(1726-1728)acA>acG	p.T576T	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	576						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGCTGTAGTGTGTGGCTGCTG	0.403																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1726-1728)acA>acG		sel-1 suppressor of lin-12-like 2 (C. elegans)							186.0	174.0	178.0					20																	13839998		2079	4219	6298	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13839998T>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1728A>G	20.37:g.13839998T>C						SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR	p.T576T			Q5TEA6	SE1L2_HUMAN			18	1802	-			576					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1728A>G																																																																																					0.403	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		9	42	0	0	0	1	0	9	42				
WDFY3	23001	broad.mit.edu	37	4	85696000	85696000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:85696000C>T	ENST00000295888.4	-	29	5134	c.4727G>A	c.(4726-4728)gGt>gAt	p.G1576D	WDFY3_ENST00000322366.6_Missense_Mutation_p.G1576D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1576					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTAGGAAAACCTTGCAGTAA	0.388																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4726-4728)gGt>gAt		WD repeat and FYVE domain containing 3							84.0	86.0	85.0					4																	85696000		2203	4299	6502	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85696000C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4727G>A	4.37:g.85696000C>T	ENSP00000295888:p.Gly1576Asp					WDFY3_ENST00000295888.4_Missense_Mutation_p.G1576D	p.G1576D			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	29	5134	-		Hepatocellular(203;0.114)	1576					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.4727G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323057	0.60634	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.41400	1.0;1.0	5.11	5.11	0.69529	.	0.099189	0.64402	D	0.000002	T	0.38506	0.1043	L	0.47190	1.495	0.80722	D	1	P	0.40578	0.722	B	0.38712	0.28	T	0.14254	-1.0479	10	0.15499	T	0.54	.	18.9145	0.92499	0.0:1.0:0.0:0.0	.	1576	Q8IZQ1	WDFY3_HUMAN	D	1576	ENSP00000318466:G1576D;ENSP00000295888:G1576D	ENSP00000295888:G1576D	G	-	2	0	WDFY3	85915024	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.924000	0.70054	2.532000	0.85374	0.655000	0.94253	GGT		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		14	53	0	0	0	1	0	14	53				
PBXIP1	57326	broad.mit.edu	37	1	154919109	154919109	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:154919109C>T	ENST00000368463.3	-	10	1112	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R	PBXIP1_ENST00000539880.1_Silent_p.R174R|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_Silent_p.R192R|PBXIP1_ENST00000368465.1_Silent_p.R318R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	347					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATCTGGGCCCCGGACACAGT	0.697																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1039-1041)cgG>cgA		pre-B-cell leukemia homeobox interacting protein 1							31.0	31.0	31.0					1																	154919109		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154919109C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1041G>A	1.37:g.154919109C>T						PBXIP1_ENST00000539880.1_Silent_p.R174R|PBXIP1_ENST00000368465.1_Silent_p.R318R|PBXIP1_ENST00000542459.1_Silent_p.R192R	p.R347R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1112	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		347					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.1041G>A	CCDS1074.1																																																																																				0.697	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		13	59	0	0	0	1	0	13	59				
BRWD1	54014	broad.mit.edu	37	21	40667757	40667757	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:40667757T>A	ENST00000333229.2	-	7	848	c.521A>T	c.(520-522)cAg>cTg	p.Q174L	BRWD1_ENST00000342449.3_Missense_Mutation_p.Q174L|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q174L|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	174					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTATATGCTGATACATAGT	0.363																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(520-522)cAg>cTg		bromodomain and WD repeat domain containing 1							121.0	117.0	118.0					21																	40667757		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40667757T>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.521A>T	21.37:g.40667757T>A	ENSP00000330753:p.Gln174Leu					BRWD1_ENST00000333229.2_Missense_Mutation_p.Q174L|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q174L	p.Q174L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			7	599	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	174					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.521A>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845058	0.91197	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.21031	2.03;2.03;2.03	5.91	5.91	0.95273	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.49304	0.1549	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.76071	0.987;0.747	T	0.52245	-0.8601	10	0.72032	D	0.01	-7.2213	16.3351	0.83056	0.0:0.0:0.0:1.0	.	174;174	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	174	ENSP00000330753:Q174L;ENSP00000344333:Q174L;ENSP00000370178:Q174L	ENSP00000330753:Q174L	Q	-	2	0	BRWD1	39589627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.032000	0.64140	2.262000	0.75019	0.528000	0.53228	CAG		0.363	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		3	68	0	0	0	1	0	3	68				
CCDC7	79741	broad.mit.edu	37	10	32740647	32740647	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:32740647T>C	ENST00000362006.5	+	2	620	c.77T>C	c.(76-78)cTa>cCa	p.L26P	CCDC7_ENST00000545067.1_Missense_Mutation_p.L26P|CCDC7_ENST00000539197.1_Missense_Mutation_p.L26P|CCDC7_ENST00000537047.1_Missense_Mutation_p.L26P|CCDC7_ENST00000535327.1_Missense_Mutation_p.L26P|CCDC7_ENST00000277657.6_Missense_Mutation_p.L26P	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	26										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAAAAAGGACTACATAATTTA	0.348																																						ENST00000545067.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(76-78)cTa>cCa		coiled-coil domain containing 7							95.0	91.0	92.0					10																	32740647		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32740647T>C	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.77T>C	10.37:g.32740647T>C	ENSP00000355078:p.Leu26Pro					CCDC7_ENST00000539197.1_Missense_Mutation_p.L26P|CCDC7_ENST00000537047.1_Missense_Mutation_p.L26P|CCDC7_ENST00000277657.6_Missense_Mutation_p.L26P|CCDC7_ENST00000362006.5_Missense_Mutation_p.L26P|CCDC7_ENST00000535327.1_Missense_Mutation_p.L26P	p.L26P			Q96M83	CCDC7_HUMAN			2	373	+		Breast(68;0.000207)|Prostate(175;0.0107)	26					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.77T>C	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.513992	0.44763	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.01	-10.0	0.00425	.	.	.	.	.	T	0.24967	0.0606	L	0.29908	0.895	0.19300	N	0.99998	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.32851	-0.9891	9	0.66056	D	0.02	.	1.4958	0.02466	0.2186:0.3051:0.09:0.3863	.	26;26	A6YT98;Q96M83	.;CCDC7_HUMAN	P	26	ENSP00000277657:L26P;ENSP00000355078:L26P;ENSP00000439930:L26P;ENSP00000441041:L26P;ENSP00000440632:L26P;ENSP00000442531:L26P	ENSP00000277657:L26P	L	+	2	0	CCDC7	32780653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.603000	0.05674	-1.366000	0.02155	-0.250000	0.11733	CTA		0.348	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		3	64	0	0	0	1	0	3	64				
RARB	5915	broad.mit.edu	37	3	25635063	25635065	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:25635063_25635065delAAT	ENST00000404969.1	+	6	877_879	c.877_879delAAT	c.(877-879)aatdel	p.N293del	RARB_ENST00000437042.2_In_Frame_Del_p.N174del|RARB_ENST00000330688.4_In_Frame_Del_p.N286del|RARB_ENST00000462272.1_Intron|RARB_ENST00000458646.1_In_Frame_Del_p.N174del			P10826	RARB_HUMAN	retinoic acid receptor, beta	293	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCTTACCCTAAATCGAACTCAGA	0.443																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(856-858)del		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)																																			SO:0001651	inframe_deletion	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25635063_25635065delAAT	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.877_879delAAT	3.37:g.25635063_25635065delAAT	ENSP00000385865:p.Asn293del					RARB_ENST00000462272.1_Intron|RARB_ENST00000437042.2_In_Frame_Del_p.N174del|RARB_ENST00000404969.1_In_Frame_Del_p.N293del|RARB_ENST00000458646.1_In_Frame_Del_p.N174del	p.N286del	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			6	1277_1279	+			293			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	In_Frame_Del	DEL	ENST00000404969.1	37	c.856_858delAAT																																																																																					0.443	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		30	78						30	78	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		2	4						2	4	---	---	---	---
THAP9	79725	broad.mit.edu	37	4	83828954	83828955	+	Frame_Shift_Ins	INS	-	-	T	rs535419993|rs369267998		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:83828954_83828955insT	ENST00000302236.5	+	4	648_649	c.597_598insT	c.(598-600)tatfs	p.Y200fs	LIN54_ENST00000505905.1_5'Flank	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	200					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGTGGGAGTTATATAATTGGAG	0.292																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(595-600)ttataafs		THAP domain containing 9																																				SO:0001589	frameshift_variant	79725						DNA binding|metal ion binding	g.chr4:83828954_83828955insT	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.598dupT	4.37:g.83828955_83828955dupT	ENSP00000305533:p.Tyr200fs						p.L*199fs	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			4	648_649	+		Hepatocellular(203;0.114)	199					B3KRE2|Q59AC9	Frame_Shift_Ins	INS	ENST00000302236.5	37	c.597_598insT	CCDS3598.1																																																																																				0.292	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		12	36						12	36	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150947521	150947522	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:150947521_150947522delCT	ENST00000261800.5	-	1	983_984	c.971_972delAG	c.(970-972)gagfs	p.E324fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	324					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGAAGGTACTCCATCCAGTT	0.505																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(970-972)gfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947521_150947522delCT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.971_972delAG	5.37:g.150947521_150947522delCT	ENSP00000261800:p.Glu324fs						p.E324fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	983_984	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	324					O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.971_972delAG	CCDS4317.1																																																																																				0.505	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		30	124						30	124	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176707765	176707766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:176707765_176707766insT	ENST00000439151.2	+	18	5867_5868	c.5822_5823insT	c.(5821-5826)tatccafs	p.P1942fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.P1673fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.P1673fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.P1839fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1942	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGCGCCAATATCCAGAGGTTG	0.465			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(5821-5823)tccfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176707765_176707766insT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5823dupT	5.37:g.176707766_176707766dupT	ENSP00000395929:p.Pro1942fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Ins_p.S1838fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.S1672fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.S1672fs	p.S1941fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	18	5867_5868	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1941			SET.		Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.5822_5823insT	CCDS4412.1																																																																																				0.465	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		14	50						14	50	---	---	---	---
C6orf203	51250	broad.mit.edu	37	6	107361060	107361061	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:107361060_107361061insT	ENST00000405204.2	+	2	703_704	c.96_97insT	c.(97-99)tacfs	p.Y33fs	C6orf203_ENST00000443043.1_Frame_Shift_Ins_p.Y38fs|C6orf203_ENST00000311381.5_Frame_Shift_Ins_p.Y33fs	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	33						mitochondrion (GO:0005739)				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		CACCTTCATCATACAAACTCTG	0.411																																						ENST00000443043.1																			0				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(109-114)tcacaafs		chromosome 6 open reading frame 203																																				SO:0001589	frameshift_variant	51250							g.chr6:107361060_107361061insT	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.97dupT	6.37:g.107361061_107361061dupT	ENSP00000384867:p.Tyr33fs					C6orf203_ENST00000405204.2_Frame_Shift_Ins_p.Q33fs|C6orf203_ENST00000311381.5_Frame_Shift_Ins_p.Q33fs	p.Q38fs	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)	3	786_787	+	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	33					B3KRG9	Frame_Shift_Ins	INS	ENST00000405204.2	37	c.111_112insT	CCDS5058.1																																																																																				0.411	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1	NM_016487		26	76						26	76	---	---	---	---
FSCN1	6624	broad.mit.edu	37	7	5632884	5632885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:5632884_5632885insG	ENST00000382361.3	+	1	431_432	c.317_318insG	c.(316-321)gaggcgfs	p.A107fs	FSCN1_ENST00000340250.6_Frame_Shift_Ins_p.A86fs	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	107					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTGCAGTCCGAGGCGCACCGGC	0.698																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(316-318)ggcfs		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)																																				SO:0001589	frameshift_variant	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5632884_5632885insG	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.319dupG	7.37:g.5632886_5632886dupG	ENSP00000371798:p.Ala107fs					FSCN1_ENST00000340250.6_Frame_Shift_Ins_p.G85fs	p.G106fs	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	1	431_432	+		Ovarian(82;0.0694)	106					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Frame_Shift_Ins	INS	ENST00000382361.3	37	c.317_318insG	CCDS5342.1																																																																																				0.698	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		8	13						8	13	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52573711	52573712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:52573711_52573712insT	ENST00000373993.1	-	8	1296_1297	c.1252_1253insA	c.(1252-1254)agafs	p.R418fs	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000374001.2_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000395489.2_Frame_Shift_Ins_p.R411fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.R363fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.R418fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	418					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTGTCTTCTCTTTTGTCTCCT	0.515																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1231-1233)agafs		APOBEC1 complementation factor																																				SO:0001589	frameshift_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573711_52573712insT	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1253dupA	10.37:g.52573715_52573715dupT	ENSP00000363105:p.Arg418fs					A1CF_ENST00000373995.3_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.R410fs|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.R363fs	p.R411fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1627_1628	-			418					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Ins	INS	ENST00000373993.1	37	c.1231_1232insA	CCDS7242.1																																																																																				0.515	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		17	96						17	96	---	---	---	---
FAM35A	54537	broad.mit.edu	37	10	88912464	88912465	+	Frame_Shift_Ins	INS	-	-	T	rs561007974		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:88912464_88912465insT	ENST00000298784.1	+	3	1467_1468	c.1353_1354insT	c.(1354-1356)tgcfs	p.C452fs	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Frame_Shift_Ins_p.C452fs	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	452										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TGCTATCTCCATGCCATGTGAA	0.312																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(1351-1356)ccgccafs		family with sequence similarity 35, member A																																				SO:0001589	frameshift_variant	54537							g.chr10:88912464_88912465insT	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1354dupT	10.37:g.88912465_88912465dupT	ENSP00000298784:p.Cys452fs					FAM35A_ENST00000298784.1_Frame_Shift_Ins_p.P452fs	p.P452fs			Q86V20	FA35A_HUMAN			3	1467_1468	+			452					O95885|Q9H991	Frame_Shift_Ins	INS	ENST00000298784.1	37	c.1353_1354insT	CCDS7383.1																																																																																				0.312	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		8	16						8	16	---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47172111	47172112	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:47172111_47172112insA	ENST00000447411.1	-	11	1239_1240	c.1033_1034insT	c.(1033-1035)tgcfs	p.C345fs	SLC38A4_ENST00000266579.4_Frame_Shift_Ins_p.C345fs	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	345					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTCAGGGTGGCATACAAAAGCA	0.406																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1033-1035)ccafs		solute carrier family 38, member 4																																				SO:0001589	frameshift_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172111_47172112insA	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1034dupT	12.37:g.47172112_47172112dupA	ENSP00000389843:p.Cys345fs					SLC38A4_ENST00000266579.4_Frame_Shift_Ins_p.P345fs	p.P345fs	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			11	1239_1240	-	Lung SC(27;0.192)|Renal(347;0.236)		345					A8K553	Frame_Shift_Ins	INS	ENST00000447411.1	37	c.1033_1034insT	CCDS8750.1																																																																																				0.406	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			14	73						14	73	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120262979	120262981	+	In_Frame_Del	DEL	ATA	ATA	-	rs149407793	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:120262979_120262981delATA	ENST00000261833.7	-	8	997_999	c.945_947delTAT	c.(943-948)attatg>atg	p.I315del	CIT_ENST00000392521.2_In_Frame_Del_p.I315del	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGAAATTCATAATGTTATTGA	0.463																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(943-948)atg>at		citron (rho-interacting, serine/threonine kinase 21)																																				SO:0001651	inframe_deletion	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120262979_120262981delATA	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.945_947delTAT	12.37:g.120262979_120262981delATA	ENSP00000261833:p.Ile315del					CIT_ENST00000261833.7_In_Frame_Del_p.IM315del	p.IM315del	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	8	1000_1002	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	315			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	In_Frame_Del	DEL	ENST00000261833.7	37	c.945_947delTAT	CCDS9192.1																																																																																				0.463	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		19	82						19	82	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23345929	23345930	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:23345929_23345930insA	ENST00000359591.4	+	6	2147_2148	c.1456_1457insA	c.(1456-1458)gagfs	p.E486fs	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Frame_Shift_Ins_p.E486fs	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	486					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GATGGAGGCTGAGATTGTGCAG	0.559																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1456-1458)gatfs		low density lipoprotein receptor-related protein 10																																				SO:0001589	frameshift_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345929_23345930insA	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1457dupA	14.37:g.23345930_23345930dupA	ENSP00000352601:p.Glu486fs					LRP10_ENST00000546834.1_Frame_Shift_Ins_p.D486fs|LRP10_ENST00000470660.1_3'UTR	p.D486fs	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	6	2147_2148	+	all_cancers(95;4.69e-05)		486					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Frame_Shift_Ins	INS	ENST00000359591.4	37	c.1456_1457insA	CCDS9578.1																																																																																				0.559	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			17	92						17	92	---	---	---	---
PAPOLA	10914	broad.mit.edu	37	14	97031283	97031299	+	Splice_Site	DEL	CATTCTCAGAAAACATC	CATTCTCAGAAAACATC	-	rs79835114		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:97031283_97031299delCATTCTCAGAAAACATC	ENST00000216277.8	+	22	2362_2370	c.2142_2150delCATTCTCAGAAAACATC	c.(2140-2151)cacattctcaga>caa	p.HILR714fs	PAPOLA_ENST00000392990.2_Splice_Site_p.HILR693fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	714	Required for interaction with NUDT21.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCTTTGCTTTCATTCTCAGAAAACATCCAGTACAGAC	0.346																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.e22-1		poly(A) polymerase alpha																																				SO:0001630	splice_region_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97031283_97031299delCATTCTCAGAAAACATC	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2143-1CATTCTCAGAAAACATC>-	14.37:g.97031283_97031299delCATTCTCAGAAAACATC						PAPOLA_ENST00000392990.2_Splice_Site_p.Q693_splice	p.Q714_splice	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	22	2362_2370	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	714			Required for interaction with NUDT21.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Splice_Site	DEL	ENST00000216277.8	37	c.2142_splice	CCDS9946.1																																																																																				0.346	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		Frame_Shift_Del	8	76						8	76	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25328182	25328183	+	RNA	DEL	AC	AC	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25328182_25328183delAC	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-16_ENST00000384533.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGCAAGGTAACACACACACAC	0.475																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25328182_25328183delAC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328192_25328193delAC						SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	188	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.475	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			2	4						2	4	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29086616	29086616	+	RNA	DEL	A	A	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:29086616delA	ENST00000582557.1	+	0	1064																											TTGTGAATGTAAAAAAAAAGT	0.299																																						ENST00000582557.1																			0																																																			440423							g.chr17:29086616delA																													17.37:g.29086616delA														0	1064	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.299	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			2	4						2	4	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610334	10610335	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:10610334_10610335insA	ENST00000171111.5	-	2	922_923	c.375_376insT	c.(373-378)attgagfs	p.E126fs	KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.E126fs|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	126	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGGATACCCTCAATGGACACCA	0.594																																						ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(373-378)atagggfs		kelch-like ECH-associated protein 1																																				SO:0001589	frameshift_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610334_10610335insA	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.376dupT	19.37:g.10610336_10610336dupA	ENSP00000171111:p.Glu126fs					KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.G126fs	p.G126fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	922_923	-			126			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Frame_Shift_Ins	INS	ENST00000171111.5	37	c.375_376insT	CCDS12239.1																																																																																				0.594	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		13	57						13	57	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15276206	15276207	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:15276206_15276207insA	ENST00000263388.2	-	31	5862_5863	c.5787_5788insT	c.(5785-5790)catgctfs	p.A1930fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1930					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGACATCAGCATGGCTGGCGA	0.574																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5785-5790)cactgafs		notch 3																																				SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276206_15276207insA	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5788dupT	19.37:g.15276207_15276207dupA	ENSP00000263388:p.Ala1930fs						p.*1930fs	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		31	5862_5863	-			1930					Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Ins	INS	ENST00000263388.2	37	c.5787_5788insT	CCDS12326.1																																																																																				0.574	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		11	81						11	81	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			7	165						7	165	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-	rs369577187		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058447_11058450delAAAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058447_11058450delAAAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.294	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	9						5	9	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-	rs377463560		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	603						8	603	---	---	---	---
